Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of diso...
Saved in:
| Published in | American journal of human genetics Vol. 83; no. 2; pp. 170 - 179 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.08.2008
University of Chicago Press Elsevier |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs. |
|---|---|
| AbstractList | Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs. Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs. |
| Author | Cantagrel, Vincent Bertrand, Julien Y. Bennett, Christopher Hildebrandt, Friedhelm Glass, Ian A. Al-Gazali, Lihadh Swistun, Dominika Silhavy, Jennifer L. Holden, Kenton R. Dobyns, William B. Lindner, Tom H. Traver, David Otto, Edgar A. Logan, Clare V. Valente, Enza Maria Ali, Bassam R. Johnson, Colin A. Caspary, Tamara Audollent, Sophie Marsh, Sarah E. Woods, C. Geoffrey Brancati, Francesco Gleeson, Joseph G. Bielas, Stephanie L. Attié-Bitach, Tania |
| AuthorAffiliation | 4 Neurosciences Section, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC 29646, USA 6 Department of Human Genetics, The University of Chicago, Room 319 CLSC, 920 E. 58th Street, IL 60637, USA 2 Section of Cell and Developmental Biology, Division of Biological Sciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0380, USA 7 Department of Pediatrics, United Arab Emirates University, Faculty of Medicine and Health Sciences, PO Box 17666, Al-Ain, United Arab Emirates 5 Departments of Neuroscience and Pediatrics, Medical University of South Carolina, Charleston, SC 29425, USA 9 Division of Nephrology, Department of Internal Medicine III, University Clinic Leipzig, Philipp-Rosenthal-Str. 27, 04103 Leipzig, Germany 13 Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK 3 Département de Génétique et INSERM U781, Hôpital Nec |
| AuthorAffiliation_xml | – name: 4 Neurosciences Section, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC 29646, USA – name: 3 Département de Génétique et INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France – name: 5 Departments of Neuroscience and Pediatrics, Medical University of South Carolina, Charleston, SC 29425, USA – name: 6 Department of Human Genetics, The University of Chicago, Room 319 CLSC, 920 E. 58th Street, IL 60637, USA – name: 2 Section of Cell and Developmental Biology, Division of Biological Sciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0380, USA – name: 10 Department of Human Genetics, Emory University School of Medicine, 615 Michael St. Suite 301, Atlanta, GA 30322-1047, USA – name: 12 Department of Pediatrics and Medicine, University of Washington School of Medicine, Childrens Hospital Regional Medical Center, A-7937, 4800 Sand Point Way NE, Seattle, WA 98105, USA – name: 1 Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA – name: 14 Yorkshire Regional Genetics Service, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK – name: 8 Department of Pathology, United Arab Emirates University, Faculty of Medicine and Health Sciences, PO Box 17666, Al-Ain, United Arab Emirates – name: 13 Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK – name: 16 Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke's Hospital, Cambridge CB2 0XY, UK – name: 9 Division of Nephrology, Department of Internal Medicine III, University Clinic Leipzig, Philipp-Rosenthal-Str. 27, 04103 Leipzig, Germany – name: 15 Instituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy – name: 7 Department of Pediatrics, United Arab Emirates University, Faculty of Medicine and Health Sciences, PO Box 17666, Al-Ain, United Arab Emirates – name: 11 Department of Pediatrics, University of Michigan, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5640, USA |
| Author_xml | – sequence: 1 givenname: Vincent surname: Cantagrel fullname: Cantagrel, Vincent organization: Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA – sequence: 2 givenname: Jennifer L. surname: Silhavy fullname: Silhavy, Jennifer L. organization: Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA – sequence: 3 givenname: Stephanie L. surname: Bielas fullname: Bielas, Stephanie L. organization: Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA – sequence: 4 givenname: Dominika surname: Swistun fullname: Swistun, Dominika organization: Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA – sequence: 5 givenname: Sarah E. surname: Marsh fullname: Marsh, Sarah E. organization: Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA – sequence: 6 givenname: Julien Y. surname: Bertrand fullname: Bertrand, Julien Y. organization: Section of Cell and Developmental Biology, Division of Biological Sciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0380, USA – sequence: 7 givenname: Sophie surname: Audollent fullname: Audollent, Sophie organization: Département de Génétique et INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France – sequence: 8 givenname: Tania surname: Attié-Bitach fullname: Attié-Bitach, Tania organization: Département de Génétique et INSERM U781, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France – sequence: 9 givenname: Kenton R. surname: Holden fullname: Holden, Kenton R. organization: Neurosciences Section, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC 29646, USA – sequence: 10 givenname: William B. surname: Dobyns fullname: Dobyns, William B. organization: Department of Human Genetics, The University of Chicago, Room 319 CLSC, 920 E. 58th Street, IL 60637, USA – sequence: 11 givenname: David surname: Traver fullname: Traver, David organization: Section of Cell and Developmental Biology, Division of Biological Sciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0380, USA – sequence: 12 givenname: Lihadh surname: Al-Gazali fullname: Al-Gazali, Lihadh organization: Department of Pediatrics, United Arab Emirates University, Faculty of Medicine and Health Sciences, PO Box 17666, Al-Ain, United Arab Emirates – sequence: 13 givenname: Bassam R. surname: Ali fullname: Ali, Bassam R. organization: Department of Pathology, United Arab Emirates University, Faculty of Medicine and Health Sciences, PO Box 17666, Al-Ain, United Arab Emirates – sequence: 14 givenname: Tom H. surname: Lindner fullname: Lindner, Tom H. organization: Division of Nephrology, Department of Internal Medicine III, University Clinic Leipzig, Philipp-Rosenthal-Str. 27, 04103 Leipzig, Germany – sequence: 15 givenname: Tamara surname: Caspary fullname: Caspary, Tamara organization: Department of Human Genetics, Emory University School of Medicine, 615 Michael St. Suite 301, Atlanta, GA 30322-1047, USA – sequence: 16 givenname: Edgar A. surname: Otto fullname: Otto, Edgar A. organization: Department of Pediatrics, University of Michigan, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5640, USA – sequence: 17 givenname: Friedhelm surname: Hildebrandt fullname: Hildebrandt, Friedhelm organization: Department of Pediatrics, University of Michigan, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-5640, USA – sequence: 18 givenname: Ian A. surname: Glass fullname: Glass, Ian A. organization: Department of Pediatrics and Medicine, University of Washington School of Medicine, Childrens Hospital Regional Medical Center, A-7937, 4800 Sand Point Way NE, Seattle, WA 98105, USA – sequence: 19 givenname: Clare V. surname: Logan fullname: Logan, Clare V. organization: Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK – sequence: 20 givenname: Colin A. surname: Johnson fullname: Johnson, Colin A. organization: Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK – sequence: 21 givenname: Christopher surname: Bennett fullname: Bennett, Christopher organization: Yorkshire Regional Genetics Service, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK – sequence: 22 givenname: Francesco surname: Brancati fullname: Brancati, Francesco organization: Instituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy – sequence: 23 givenname: Enza Maria surname: Valente fullname: Valente, Enza Maria organization: Instituto di Ricovero e Cura a Carattere Scientifico, Casa Sollievo della Sofferenza, Mendel Institute, viale Regina Margherita 261, 00198 Rome, Italy – sequence: 24 givenname: C. Geoffrey surname: Woods fullname: Woods, C. Geoffrey organization: Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke's Hospital, Cambridge CB2 0XY, UK – sequence: 25 givenname: Joseph G. surname: Gleeson fullname: Gleeson, Joseph G. email: jogleeson@ucsd.edu organization: Laboratory of Neurogenetics, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093-0691, USA |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20562666$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/18674751$$D View this record in MEDLINE/PubMed |
| BookMark | eNqFkU1vEzEQhi1URNPCH-CAfIFbwthe27sSQioRLaAgxNfZmuyOG0cbu9i7lfrv2ShRgQs9zWGeeWdGzxk7iSkSY88FLAQI83q7wO3meiEB6gWYBUj1iM2EVnZuDOgTNgMAOW9kY0_ZWSlbACFqUE_YqaiNrawWM_b18zjgEFIsPEQ-bIgvQx-QX1EkfvFtJdQ7viLs-JAO3R5LCS32_DLlHU-ef0rjmvLAv9_FLqcdPWWPPfaFnh3rOft5-f7H8sN89eXq4_JiNW-NEMO8a6zvDMjGW6jQU9fVsK7WWCvjPaIwaGsrvSbRVdJLEohWeUVgtCehUJ2zt4fcm3G9o66lOGTs3U0OO8x3LmFw_3Zi2LjrdOtk1Wiwcgp4dQzI6ddIZXC7UFrqe4yUxuJMo2oLWj0ISpBa1rZ6EBSNNpUWZgLlAWxzKiWTvz9bgNu7dVu3d-v2bh0YN7mdhl78_fCfkaPMCXh5BLBMhnzG2IZyz0nQRhqz3_7mwNGk5zZQdqUNFFvqQqZ2cF0K_7vjN233w5g |
| CODEN | AJHGAG |
| CitedBy_id | crossref_primary_10_1002_wsbm_1193 crossref_primary_10_1016_j_ajhg_2009_12_007 crossref_primary_10_1016_S1474_4422_13_70136_4 crossref_primary_10_1016_j_ajhg_2015_09_009 crossref_primary_10_1016_j_jgg_2016_02_001 crossref_primary_10_1007_s12311_010_0169_6 crossref_primary_10_1111_gtc_12603 crossref_primary_10_1016_j_devcel_2018_10_027 crossref_primary_10_1242_dev_036350 crossref_primary_10_1146_annurev_cellbio_101512_122400 crossref_primary_10_1111_cge_13541 crossref_primary_10_1096_fj_202200692RRRR crossref_primary_10_3390_biomedicines12030603 crossref_primary_10_1016_j_mod_2009_01_007 crossref_primary_10_1084_jem_20192040 crossref_primary_10_3390_ijms23179707 crossref_primary_10_1111_mec_14141 crossref_primary_10_1126_sciadv_abj9748 crossref_primary_10_1002_dvdy_23876 crossref_primary_10_1016_j_str_2015_08_016 crossref_primary_10_1016_j_devcel_2017_07_010 crossref_primary_10_3389_fncel_2017_00384 crossref_primary_10_1002_ajmg_c_30229 crossref_primary_10_1042_BC20100150 crossref_primary_10_1093_hmg_ddx143 crossref_primary_10_7554_eLife_56551 crossref_primary_10_1016_j_tjog_2019_09_023 crossref_primary_10_1016_j_febslet_2012_07_037 crossref_primary_10_1002_uog_12567 crossref_primary_10_1016_j_gde_2019_07_009 crossref_primary_10_1242_jcs_230680 crossref_primary_10_1016_j_phrs_2018_10_002 crossref_primary_10_1038_nature12606 crossref_primary_10_1038_nrneurol_2013_247 crossref_primary_10_1101_cshperspect_a041406 crossref_primary_10_1038_srep24534 crossref_primary_10_1242_jcs_212324 crossref_primary_10_1002_advs_201801138 crossref_primary_10_1002_bdrc_21066 crossref_primary_10_1371_journal_pone_0063123 crossref_primary_10_1097_WCO_0b013e3283444d05 crossref_primary_10_1101_gad_351337_123 crossref_primary_10_1093_hmg_ddp335 crossref_primary_10_1097_MNH_0b013e3283477797 crossref_primary_10_1016_j_ajhg_2017_05_010 crossref_primary_10_1002_humu_21116 crossref_primary_10_1038_ncb3599 crossref_primary_10_1089_zeb_2008_9987 crossref_primary_10_1002_bdra_20686 crossref_primary_10_1007_s00018_019_03065_w crossref_primary_10_1083_jcb_200908133 crossref_primary_10_1002_path_5636 crossref_primary_10_1016_j_visres_2012_09_011 crossref_primary_10_1074_jbc_RA117_000141 crossref_primary_10_1136_jmedgenet_2015_103250 crossref_primary_10_1016_j_clp_2009_06_001 crossref_primary_10_1016_j_ajhg_2008_10_002 crossref_primary_10_1007_s13238_010_0098_7 crossref_primary_10_1016_j_bioadv_2023_213652 crossref_primary_10_1371_journal_pgen_1007128 crossref_primary_10_1074_jbc_M117_784025 crossref_primary_10_1523_JNEUROSCI_1761_18_2018 crossref_primary_10_1007_s00709_019_01385_z crossref_primary_10_1002_dvg_23073 crossref_primary_10_1016_j_gde_2012_04_006 crossref_primary_10_1007_s00441_014_1979_5 crossref_primary_10_1016_j_gene_2015_08_050 crossref_primary_10_1186_s13059_015_0858_z crossref_primary_10_1242_jcs_143446 crossref_primary_10_1016_j_ydbio_2020_02_016 crossref_primary_10_1242_jcs_259999 crossref_primary_10_7554_eLife_11859 crossref_primary_10_1007_s00467_010_1697_5 crossref_primary_10_1186_1750_1172_7_8 crossref_primary_10_3390_ijms24065276 crossref_primary_10_1038_s41467_018_05867_1 crossref_primary_10_1016_j_tice_2023_102088 crossref_primary_10_1083_jcb_200912001 crossref_primary_10_1093_jb_mvab024 crossref_primary_10_3390_genes12060945 crossref_primary_10_1038_jhg_2012_117 crossref_primary_10_1016_j_gep_2018_07_002 crossref_primary_10_1091_mbc_E22_10_0473 crossref_primary_10_1016_j_celrep_2017_06_045 crossref_primary_10_3390_biom11010078 crossref_primary_10_1167_iovs_19_27263 crossref_primary_10_1007_s00467_010_1585_z crossref_primary_10_3109_08923973_2010_518618 crossref_primary_10_1038_cti_2016_15 crossref_primary_10_1042_BJ20131097 crossref_primary_10_1146_annurev_genet_111212_133243 crossref_primary_10_1002_bdrc_20209 crossref_primary_10_1186_s13041_020_00571_y crossref_primary_10_2353_jmoldx_2010_090033 crossref_primary_10_3233_TRD_190041 crossref_primary_10_3389_fcell_2021_623734 crossref_primary_10_1074_jbc_M115_710954 crossref_primary_10_1016_j_ajhg_2022_08_009 crossref_primary_10_1016_j_jbc_2023_104604 crossref_primary_10_1002_mds_27415 crossref_primary_10_1016_j_preteyeres_2022_101096 crossref_primary_10_1242_dev_201116 crossref_primary_10_1002_jcb_24116 crossref_primary_10_1016_S1470_2045_09_70167_6 crossref_primary_10_1080_15592294_2015_1057672 crossref_primary_10_3390_biom12121724 crossref_primary_10_1242_jcs_163964 crossref_primary_10_1016_j_celrep_2019_11_015 crossref_primary_10_1056_NEJMra1010172 crossref_primary_10_1074_jbc_M117_792937 crossref_primary_10_1681_ASN_2015091004 crossref_primary_10_1186_1750_1172_5_20 crossref_primary_10_3389_fcell_2020_00148 crossref_primary_10_1242_jcs_197004 crossref_primary_10_1016_j_nbd_2009_12_022 crossref_primary_10_1002_ajmg_c_30231 crossref_primary_10_4161_org_26710 crossref_primary_10_1038_s41576_023_00587_9 crossref_primary_10_1016_j_preteyeres_2011_03_001 crossref_primary_10_1098_rsob_230228 crossref_primary_10_2350_09_02_0614_CR_1 crossref_primary_10_3389_fcell_2018_00008 crossref_primary_10_1016_j_preteyeres_2018_12_004 crossref_primary_10_1093_bioadv_vbab009 crossref_primary_10_1038_ejhg_2008_238 crossref_primary_10_1002_ajmg_a_33416 crossref_primary_10_1016_j_devcel_2012_09_019 crossref_primary_10_1016_j_ajhg_2013_06_003 crossref_primary_10_1515_hsz_2017_0226 crossref_primary_10_1186_1749_8104_9_26 crossref_primary_10_1016_j_ajhg_2009_09_002 crossref_primary_10_1128_MCB_00612_17 crossref_primary_10_1186_s40673_017_0061_y crossref_primary_10_1038_nn_3451 crossref_primary_10_1080_21541248_2016_1224454 crossref_primary_10_1152_ajpcell_00338_2011 crossref_primary_10_15252_embr_201847625 crossref_primary_10_1042_BST20160122 crossref_primary_10_1007_s00439_013_1297_0 crossref_primary_10_15252_embj_201488044 crossref_primary_10_1002_ajmg_a_33025 crossref_primary_10_1016_j_bbadis_2019_165532 crossref_primary_10_1016_j_tcb_2012_02_001 crossref_primary_10_1093_hmg_ddr332 crossref_primary_10_1136_jmedgenet_2015_103304 crossref_primary_10_1016_j_ajhg_2012_02_011 crossref_primary_10_1016_j_ydbio_2014_11_009 crossref_primary_10_1152_ajpcell_00188_2020 crossref_primary_10_1038_ng_423 crossref_primary_10_1073_pnas_1210916109 crossref_primary_10_1002_jcp_31189 crossref_primary_10_1016_j_semcdb_2022_03_021 crossref_primary_10_1038_ng_891 crossref_primary_10_1053_j_ajkd_2020_08_012 crossref_primary_10_3390_biology11050709 crossref_primary_10_1515_jpem_2022_0153 crossref_primary_10_1093_cercor_bhq099 crossref_primary_10_1098_rsos_161102 crossref_primary_10_3389_fgene_2022_1038274 crossref_primary_10_7554_eLife_65427 crossref_primary_10_3390_cells7090130 crossref_primary_10_1186_2046_2530_1_4 crossref_primary_10_1091_mbc_e16_07_0505 crossref_primary_10_1101_cshperspect_a028175 crossref_primary_10_7554_eLife_02419 crossref_primary_10_3389_fgene_2022_939527 crossref_primary_10_1038_s41431_017_0031_0 crossref_primary_10_1126_sciadv_abb0601 crossref_primary_10_1007_s10753_023_01806_5 crossref_primary_10_1007_s00441_014_1973_y crossref_primary_10_1371_journal_pgen_1003977 crossref_primary_10_1016_j_ijporl_2010_05_034 crossref_primary_10_1038_ejhg_2014_156 crossref_primary_10_1093_hmg_ddw241 crossref_primary_10_1002_ajmg_a_33727 crossref_primary_10_1111_cge_12836 crossref_primary_10_1080_19336918_2016_1159380 crossref_primary_10_1016_j_yexcr_2013_03_024 crossref_primary_10_1136_jmedgenet_2015_103087 crossref_primary_10_1007_s00467_010_1731_7 crossref_primary_10_1080_01913123_2021_1891161 crossref_primary_10_1016_j_preteyeres_2010_03_004 crossref_primary_10_1016_j_semcdb_2020_07_014 crossref_primary_10_1242_bio_058843 crossref_primary_10_1073_pnas_1000219107 crossref_primary_10_1038_ejhg_2012_305 crossref_primary_10_1136_jmedgenet_2018_105918 crossref_primary_10_1016_j_acthis_2013_03_005 crossref_primary_10_1158_0008_5472_CAN_16_2461 crossref_primary_10_5114_ninp_2012_30457 crossref_primary_10_1091_mbc_e14_02_0735 crossref_primary_10_3389_fcell_2021_623753 crossref_primary_10_3389_fcell_2021_622302 crossref_primary_10_1016_j_spen_2009_06_002 crossref_primary_10_1111_nep_12022 crossref_primary_10_1091_mbc_e16_03_0189 crossref_primary_10_1016_j_bcp_2022_115143 crossref_primary_10_1074_jbc_M110_188482 crossref_primary_10_1093_neuonc_noac245 crossref_primary_10_3109_00207454_2013_783031 crossref_primary_10_1101_cshperspect_a028274 crossref_primary_10_1083_jcb_202201050 crossref_primary_10_1093_brain_awp247 crossref_primary_10_1073_pnas_2218819120 crossref_primary_10_1016_j_cell_2011_04_019 crossref_primary_10_1093_genetics_iyab084 crossref_primary_10_2139_ssrn_3155933 crossref_primary_10_1093_jb_mvw069 crossref_primary_10_1055_s_0042_1760242 crossref_primary_10_1007_s00018_017_2570_5 crossref_primary_10_1242_dev_201189 crossref_primary_10_3390_cells9040931 crossref_primary_10_1038_s41467_023_37362_7 crossref_primary_10_1016_j_ydbio_2012_04_011 crossref_primary_10_1096_fj_202301906R crossref_primary_10_3389_fcell_2021_635424 crossref_primary_10_3389_fncel_2015_00030 crossref_primary_10_1007_s00424_021_02558_7 crossref_primary_10_1242_jcs_219071 crossref_primary_10_1242_jcs_249565 crossref_primary_10_3390_genes5010176 crossref_primary_10_1002_path_4843 crossref_primary_10_1242_bio_020461 crossref_primary_10_3390_diseases6020043 crossref_primary_10_1016_j_ydbio_2023_05_004 crossref_primary_10_1016_j_semcdb_2022_04_011 crossref_primary_10_7554_eLife_69786 crossref_primary_10_1038_mp_a003975_01 crossref_primary_10_1172_JCI43639 crossref_primary_10_1016_j_biochi_2019_07_010 crossref_primary_10_1016_j_braindev_2010_06_014 crossref_primary_10_7554_eLife_80533 crossref_primary_10_1007_s00441_016_2523_6 crossref_primary_10_1080_19768354_2013_830646 crossref_primary_10_1152_ajprenal_00338_2023 crossref_primary_10_1371_journal_pgen_1004866 crossref_primary_10_1007_s12264_020_00554_y crossref_primary_10_1083_jcb_201203150 crossref_primary_10_1002_ajmg_a_61399 crossref_primary_10_1002_ajmg_c_31963 crossref_primary_10_1002_cne_25029 crossref_primary_10_1016_j_bbrc_2018_12_109 crossref_primary_10_1091_mbc_e15_02_0061 crossref_primary_10_1146_annurev_genom_121321_093528 crossref_primary_10_1111_tra_12195 crossref_primary_10_1016_j_ajhg_2011_11_005 crossref_primary_10_3389_fcell_2021_636737 crossref_primary_10_1111_tra_12072 crossref_primary_10_1016_j_ajhg_2018_08_015 crossref_primary_10_1016_j_celrep_2019_07_025 crossref_primary_10_1016_j_biochi_2018_09_007 crossref_primary_10_1016_j_ydbio_2019_03_011 crossref_primary_10_1091_mbc_e13_10_0599 crossref_primary_10_1523_JNEUROSCI_1708_15_2015 crossref_primary_10_1016_j_cub_2014_12_051 crossref_primary_10_1007_s00018_011_0826_z crossref_primary_10_1038_nrg2774 crossref_primary_10_1038_s41551_022_00880_8 crossref_primary_10_1016_j_devcel_2019_11_005 crossref_primary_10_3390_cells9040907 crossref_primary_10_1016_j_ejcb_2017_09_001 crossref_primary_10_1101_cshperspect_a028191 |
| Cites_doi | 10.1177/088307389701200703 10.1002/cne.21510 10.1242/dev.01775 10.1016/S0092-8674(04)00412-X 10.1126/science.1062023 10.1038/nmeth712 10.1086/423903 10.1002/ajmg.a.20437 10.1136/jmg.2004.027375 10.1093/embo-reports/kve043 10.1242/dev.003715 10.1016/j.tcb.2004.10.004 10.1136/jmg.2005.036608 10.1016/j.bbapap.2005.06.005 10.1086/302655 10.1002/ajmg.1320320217 10.1073/pnas.0408358102 10.1038/ng2069 10.1093/emboj/21.9.2095 10.1016/j.ydbio.2004.03.007 10.1086/344344 10.1038/ng2066 10.1038/ng1786 10.1086/378241 10.1016/S0092-8674(04)00450-7 10.1086/510499 10.1523/JNEUROSCI.5586-06.2007 10.1146/annurev.cellbio.23.090506.123209 10.1093/bioinformatics/bti571 10.1083/jcb.100.2.384 10.1038/ng0906-961 10.1086/378206 10.1038/ng1414 10.2353/ajpath.2006.050941 10.1186/1750-1172-1-47 10.1016/j.devcel.2007.03.004 10.1091/mbc.10.6.1837 10.1086/421846 10.1002/ana.20749 10.1038/nature02166 10.1073/pnas.0637349100 10.1038/ng1805 10.1016/j.tig.2006.07.006 10.1002/ana.20422 10.1002/cne.901440202 10.1023/B:TRAG.0000026071.41735.8e 10.1016/S0896-6273(00)80682-0 10.1212/01.wnl.0000277644.12087.fd 10.1002/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C 10.1002/(SICI)1096-8628(20000313)91:2<135::AID-AJMG11>3.0.CO;2-1 10.1083/jcb.200309025 10.1038/nature04541 10.1002/ar.1091650202 10.1086/519026 10.1242/dev.01240 10.1016/j.cub.2005.04.059 10.1016/j.ydbio.2008.02.026 10.1136/adc.59.8.709 10.1038/ng2039 10.1101/gad.13.20.2713 |
| ContentType | Journal Article |
| Copyright | 2008 The American Society of Human Genetics 2008 INIST-CNRS 2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics |
| Copyright_xml | – notice: 2008 The American Society of Human Genetics – notice: 2008 INIST-CNRS – notice: 2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics |
| CorporateAuthor | The International Joubert Syndrome Related Disorders (JSRD) Study Group International Joubert Syndrome Related Disorders Study Group |
| CorporateAuthor_xml | – name: The International Joubert Syndrome Related Disorders (JSRD) Study Group – name: International Joubert Syndrome Related Disorders Study Group |
| DBID | 6I. AAFTH IQODW CGR CUY CVF ECM EIF NPM AAYXX CITATION 7TK 8FD FR3 P64 RC3 7U7 C1K 7X8 5PM |
| DOI | 10.1016/j.ajhg.2008.06.023 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access Pascal-Francis Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Neurosciences Abstracts Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts Toxicology Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic PubMed Central (Full Participant titles) |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Genetics Abstracts Engineering Research Database Technology Research Database Neurosciences Abstracts Biotechnology and BioEngineering Abstracts Toxicology Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic |
| DatabaseTitleList | MEDLINE - Academic MEDLINE Genetics Abstracts Genetics Abstracts |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Biology |
| EISSN | 1537-6605 |
| EndPage | 179 |
| ExternalDocumentID | 10_1016_j_ajhg_2008_06_023 18674751 20562666 S0002929708004060 |
| Genre | Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Extramural |
| GrantInformation_xml | – fundername: NIDDK NIH HHS grantid: R01-DK069272 – fundername: NIDDK NIH HHS grantid: R01 DK064614 – fundername: NIDDK NIH HHS grantid: R01 DK068306 – fundername: NIDDK NIH HHS grantid: R01-DK068306 – fundername: Howard Hughes Medical Institute – fundername: NIA NIH HHS grantid: T32 AG000216 – fundername: NINDS NIH HHS grantid: P30 NS047101 – fundername: NIDDK NIH HHS grantid: R01-DK064614 – fundername: NINDS NIH HHS grantid: R01 NS052455 – fundername: NHGRI NIH HHS grantid: N01HG65403 |
| GroupedDBID | --- --K --Z -~X 0R~ 123 1~5 23M 2WC 34R 3O- 4.4 457 4G. 53G 5GY 62- 6I. 6J9 7-5 85S AACTN AAEDT AAEDW AAFTH AAIAV AAIKJ AAKRW AALRI AAUCE AAVLU AAWTL AAXJY AAXUO ABJNI ABMAC ABMWF ABOCM ABVKL ACGFO ACGFS ACGOD ACNCT ACPRK ADBBV ADEZE ADJPV AENEX AEXQZ AFRAH AFTJW AGCDD AGHFR AGKMS AHMBA AITUG ALKID ALMA_UNASSIGNED_HOLDINGS AMRAJ AOIJS ASPBG AVWKF AZFZN BAWUL C1A CS3 D0L DIK E3Z EBS ECV EJD F5P FCP FDB FEDTE GX1 HVGLF HYE HZ~ IH2 IHE IXB JIG KQ8 L7B M41 NCXOZ O-L O9- OHT OK1 OZT P2P PQQKQ RCE RIG RNS ROL RPM RPZ SES SJN SSZ TN5 TR2 TWZ UHB UKR UNMZH UPT VQA WH7 WQ6 ZA5 ZCA .55 .GJ 08R 41~ AAQXK AAUGY ABPTK ACKIV ADMUD AFMIJ AI. AKALU F20 FA8 FGOYB IQODW MVM NEJ R2- VH1 WOQ X7M XOL ZCG ZGI ZXP 0SF AAMRU ADVLN AKAPO AKRWK CGR CUY CVF ECM EIF NPM AAYXX ACRPL CITATION 7TK 8FD FR3 P64 RC3 7U7 C1K 7X8 5PM |
| ID | FETCH-LOGICAL-c611t-d97fd6029f704afedd80b4ba836ffaa16a7872f5e1d42f2e1aa73f3e065fe13a3 |
| IEDL.DBID | RPM |
| ISSN | 0002-9297 |
| IngestDate | Tue Sep 17 21:02:38 EDT 2024 Fri Oct 25 11:58:54 EDT 2024 Sun Sep 29 07:46:38 EDT 2024 Thu Oct 24 23:54:45 EDT 2024 Fri Dec 06 03:44:56 EST 2024 Sat Nov 02 12:25:13 EDT 2024 Sun Oct 22 16:08:35 EDT 2023 Fri Feb 23 02:29:29 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 2 |
| Keywords | Human Nervous system diseases Gene Malformation Joubert syndrome Central nervous system disease Genetics Mutation Genetic disease Cerebral disorder |
| Language | English |
| License | http://www.elsevier.com/open-access/userlicense/1.0 CC BY 4.0 https://www.elsevier.com/tdm/userlicense/1.0 https://www.elsevier.com/open-access/userlicense/1.0 This document may be redistributed and reused, subject to certain conditions. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c611t-d97fd6029f704afedd80b4ba836ffaa16a7872f5e1d42f2e1aa73f3e065fe13a3 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Study group members are listed fully in the Supplemental Data These authors contributed equally to this work |
| OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S0002929708004060 |
| PMID | 18674751 |
| PQID | 19564516 |
| PQPubID | 23462 |
| PageCount | 10 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_2495072 proquest_miscellaneous_69387053 proquest_miscellaneous_20252874 proquest_miscellaneous_19564516 crossref_primary_10_1016_j_ajhg_2008_06_023 pubmed_primary_18674751 pascalfrancis_primary_20562666 elsevier_sciencedirect_doi_10_1016_j_ajhg_2008_06_023 |
| PublicationCentury | 2000 |
| PublicationDate | 20080801 |
| PublicationDateYYYYMMDD | 2008-08-01 |
| PublicationDate_xml | – month: 8 year: 2008 text: 20080801 day: 1 |
| PublicationDecade | 2000 |
| PublicationPlace | Chicago, IL |
| PublicationPlace_xml | – name: Chicago, IL – name: United States |
| PublicationTitle | American journal of human genetics |
| PublicationTitleAlternate | Am J Hum Genet |
| PublicationYear | 2008 |
| Publisher | Elsevier Inc University of Chicago Press Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: University of Chicago Press – name: Elsevier |
| References | Verloes, Lambotte (bib5) 1989; 32 Collins, Schwartz (bib33) 2002; 71 Keeler, Marsh, Leeflang, Woods, Sztriha, Al-Gazali, Gururaj, Gleeson (bib53) 2003; 73 Valente, Salpietro, Brancati, Bertini, Galluccio, Tortorella, Briuglia, Dallapiccola (bib54) 2003; 73 Maria, Hoang, Tusa, Mancuso, Hamed, Quisling, Hove, Fennell, Booth-Jones, Ringdahl (bib2) 1997; 12 Hoffmann, Lindner (bib17) 2005; 21 Chiang, Nishimura, Searby, Elbedour, Carmi, Ferguson, Secrist, Braun, Casavant, Stone (bib32) 2004; 75 Zaki, Abdel-Aleem, Abdel-Salam, Marsh, Silhavy, Barkovich, Ross, Saleem, Dobyns, Gleeson (bib38) 2008; 70 Amsterdam, Burgess, Golling, Chen, Sun, Townsend, Farrington, Haldi, Hopkins (bib40) 1999; 13 Pasqualato, Menetrey, Franco, Cherfils (bib36) 2001; 2 Wechsler-Reya, Scott (bib58) 1999; 22 Hatten (bib21) 1985; 100 Sayer, Otto, O'Toole, Nurnberg, Kennedy, Becker, Hennies, Helou, Attanasio, Fausett (bib9) 2006; 38 Lewis, Gritli-Linde, Smeyne, Kottmann, McMahon (bib59) 2004; 270 King, Dudgeon, Stephenson (bib3) 1984; 59 Valente, Silhavy, Brancati, Barrano, Krishnaswami, Castori, Lancaster, Boltshauser, Boccone, Al-Gazali (bib8) 2006; 38 Saar, Al-Gazali, Sztriha, Rueschendorf, Nur, Reis, Bayoumi (bib55) 1999; 65 Hanzal-Bayer, Renault, Roversi, Wittinghofer, Hillig (bib34) 2002; 21 Stolc, Samanta, Tongprasit, Marshall (bib30) 2005; 102 Del Cerro, Snider (bib44) 1972; 144 Schrick, Vogel, Abuin, Hampton, Rice (bib57) 2006; 168 Brancati, Barrano, Silhavy, Marsh, Travaglini, Bielas, Amorini, Zablocka, Kayserili, Al-Gazali (bib50) 2007; 81 Spassky, Han, Aguilar, Strehl, Besse, Laclef, Romaguera Ros, Garcia-Verdugo, Alvarez-Buylla (bib60) 2008; 317 Palau, Espinos (bib1) 2006; 1 Arts, Doherty, van Beersum, Parisi, Letteboer, Gorden, Peters, Marker, Voesenek, Kartono (bib12) 2007; 39 Li, Gerdes, Haycraft, Fan, Teslovich, May-Simera, Li, Blacque, Li, Leitch (bib28) 2004; 117 Sun, Amsterdam, Pazour, Cole, Miller, Hopkins (bib39) 2004; 131 Burd, Strochlic, Gangi Setty (bib48) 2004; 14 Fan, Esmail, Ansley, Blacque, Boroevich, Ross, Moore, Badano, May-Simera, Compton (bib31) 2004; 36 Chizhikov, Davenport, Zhang, Shih, Cabello, Fuchs, Yoder, Millen (bib46) 2007; 27 Valente, Marsh, Castori, Dixon-Salazar, Bertini, Al-Gazali, Messer, Barbot, Woods, Boltshauser (bib56) 2005; 57 Parisi, Bennett, Eckert, Dobyns, Gleeson, Shaw, McDonald, Eddy, Chance, Glass (bib11) 2004; 75 Gherman, Davis, Katsanis (bib23) 2006; 38 Efimenko, Bubb, Mak, Holzman, Leroux, Ruvkun, Thomas, Swoboda (bib24) 2005; 132 Andersen, Wilkinson, Mayor, Mortensen, Nigg, Mann (bib27) 2003; 426 Gleeson, Keeler, Parisi, Marsh, Chance, Glass, Graham, Maria, Barkovich, Dobyns (bib7) 2004; 125A Inglis, Boroevich, Leroux (bib22) 2006; 22 den Hollander, Koenekoop, Mohamed, Arts, Boldt, Towns, Sedmak, Beer, Nagel-Wolfrum, McKibbin (bib41) 2007; 39 Valente, Brancati, Silhavy, Castori, Marsh, Barrano, Bertini, Boltshauser, Zaki, Abdel-Aleem (bib52) 2006; 59 Haug, Khan, Fuchs, Konig (bib6) 2000; 91 Broadhead, Dawe, Farr, Griffiths, Hart, Portman, Shaw, Ginger, Gaskell, McKean (bib26) 2006; 440 Zhao, Hong, Pawlyk, Yue, Adamian, Grynberg, Godzik, Li (bib42) 2003; 100 Kelly, Jess, Price (bib37) 2005; 1751 Parisi, Doherty, Eckert, Shaw, Ozyurek, Aysun, Giray, Al Swaid, Al Shahwan, Dohayan (bib51) 2006; 43 Gillingham, Munro (bib49) 2007; 23 Delous, Baala, Salomon, Laclef, Vierkotten, Tory, Golzio, Lacoste, Besse, Ozilou (bib13) 2007; 39 Vetter, Wittinghofer (bib35) 2001; 294 Tisdale (bib18) 1999; 10 Blacque, Perens, Boroevich, Inglis, Li, Warner, Khattra, Holt, Ou, Mah (bib25) 2005; 15 Higginbotham, Bielas, Tanaka, Gleeson (bib47) 2004; 13 Caspary, Larkins, Anderson (bib19) 2007; 12 Satran, Pierpont, Dobyns (bib4) 1999; 86 Castori, Valente, Donati, Salvi, Fazzi, Procopio, Galluccio, Emma, Dallapiccola, Bertini (bib10) 2005; 42 Murray, Oliphant, Shen, McBride, Steeke, Shannon, Rubano, Kermani, Fan, Chee (bib16) 2004; 1 Tanaka, Serneo, Higgins, Gambello, Wynshaw-Boris, Gleeson (bib20) 2004; 165 Avidor-Reiss, Maer, Koundakjian, Polyanovsky, Keil, Subramaniam, Zuker (bib29) 2004; 117 Vierkotten, Dildrop, Peters, Wang, Ruther (bib14) 2007; 134 Bishop, Berbari, Lewis, Mykytyn (bib45) 2007; 505 Del Cerro, Snider (bib43) 1969; 165 Baala, Romano, Khaddour, Saunier, Smith, Audollent, Ozilou, Faivre, Laurent, Foliguet (bib15) 2007; 80 Maria (10.1016/j.ajhg.2008.06.023_bib2) 1997; 12 Saar (10.1016/j.ajhg.2008.06.023_bib55) 1999; 65 Bishop (10.1016/j.ajhg.2008.06.023_bib45) 2007; 505 Delous (10.1016/j.ajhg.2008.06.023_bib13) 2007; 39 Stolc (10.1016/j.ajhg.2008.06.023_bib30) 2005; 102 Valente (10.1016/j.ajhg.2008.06.023_bib52) 2006; 59 Valente (10.1016/j.ajhg.2008.06.023_bib56) 2005; 57 Vierkotten (10.1016/j.ajhg.2008.06.023_bib14) 2007; 134 Parisi (10.1016/j.ajhg.2008.06.023_bib51) 2006; 43 den Hollander (10.1016/j.ajhg.2008.06.023_bib41) 2007; 39 Sayer (10.1016/j.ajhg.2008.06.023_bib9) 2006; 38 Hatten (10.1016/j.ajhg.2008.06.023_bib21) 1985; 100 Avidor-Reiss (10.1016/j.ajhg.2008.06.023_bib29) 2004; 117 Andersen (10.1016/j.ajhg.2008.06.023_bib27) 2003; 426 Amsterdam (10.1016/j.ajhg.2008.06.023_bib40) 1999; 13 Collins (10.1016/j.ajhg.2008.06.023_bib33) 2002; 71 Pasqualato (10.1016/j.ajhg.2008.06.023_bib36) 2001; 2 Chiang (10.1016/j.ajhg.2008.06.023_bib32) 2004; 75 Burd (10.1016/j.ajhg.2008.06.023_bib48) 2004; 14 Fan (10.1016/j.ajhg.2008.06.023_bib31) 2004; 36 Higginbotham (10.1016/j.ajhg.2008.06.023_bib47) 2004; 13 Tanaka (10.1016/j.ajhg.2008.06.023_bib20) 2004; 165 Chizhikov (10.1016/j.ajhg.2008.06.023_bib46) 2007; 27 Hoffmann (10.1016/j.ajhg.2008.06.023_bib17) 2005; 21 Efimenko (10.1016/j.ajhg.2008.06.023_bib24) 2005; 132 Caspary (10.1016/j.ajhg.2008.06.023_bib19) 2007; 12 Del Cerro (10.1016/j.ajhg.2008.06.023_bib43) 1969; 165 Schrick (10.1016/j.ajhg.2008.06.023_bib57) 2006; 168 Parisi (10.1016/j.ajhg.2008.06.023_bib11) 2004; 75 Li (10.1016/j.ajhg.2008.06.023_bib28) 2004; 117 Gillingham (10.1016/j.ajhg.2008.06.023_bib49) 2007; 23 Wechsler-Reya (10.1016/j.ajhg.2008.06.023_bib58) 1999; 22 Lewis (10.1016/j.ajhg.2008.06.023_bib59) 2004; 270 Blacque (10.1016/j.ajhg.2008.06.023_bib25) 2005; 15 Brancati (10.1016/j.ajhg.2008.06.023_bib50) 2007; 81 Vetter (10.1016/j.ajhg.2008.06.023_bib35) 2001; 294 Hanzal-Bayer (10.1016/j.ajhg.2008.06.023_bib34) 2002; 21 Baala (10.1016/j.ajhg.2008.06.023_bib15) 2007; 80 Broadhead (10.1016/j.ajhg.2008.06.023_bib26) 2006; 440 Del Cerro (10.1016/j.ajhg.2008.06.023_bib44) 1972; 144 Valente (10.1016/j.ajhg.2008.06.023_bib54) 2003; 73 Gherman (10.1016/j.ajhg.2008.06.023_bib23) 2006; 38 Murray (10.1016/j.ajhg.2008.06.023_bib16) 2004; 1 Palau (10.1016/j.ajhg.2008.06.023_bib1) 2006; 1 Inglis (10.1016/j.ajhg.2008.06.023_bib22) 2006; 22 Valente (10.1016/j.ajhg.2008.06.023_bib8) 2006; 38 Sun (10.1016/j.ajhg.2008.06.023_bib39) 2004; 131 Keeler (10.1016/j.ajhg.2008.06.023_bib53) 2003; 73 Arts (10.1016/j.ajhg.2008.06.023_bib12) 2007; 39 Spassky (10.1016/j.ajhg.2008.06.023_bib60) 2008; 317 Gleeson (10.1016/j.ajhg.2008.06.023_bib7) 2004; 125A King (10.1016/j.ajhg.2008.06.023_bib3) 1984; 59 Castori (10.1016/j.ajhg.2008.06.023_bib10) 2005; 42 Kelly (10.1016/j.ajhg.2008.06.023_bib37) 2005; 1751 Zaki (10.1016/j.ajhg.2008.06.023_bib38) 2008; 70 Satran (10.1016/j.ajhg.2008.06.023_bib4) 1999; 86 Verloes (10.1016/j.ajhg.2008.06.023_bib5) 1989; 32 Zhao (10.1016/j.ajhg.2008.06.023_bib42) 2003; 100 Tisdale (10.1016/j.ajhg.2008.06.023_bib18) 1999; 10 Haug (10.1016/j.ajhg.2008.06.023_bib6) 2000; 91 |
| References_xml | – volume: 39 start-page: 889 year: 2007 end-page: 895 ident: bib41 article-title: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis publication-title: Nat. Genet. contributor: fullname: McKibbin – volume: 59 start-page: 527 year: 2006 end-page: 534 ident: bib52 article-title: AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders publication-title: Ann. Neurol. contributor: fullname: Abdel-Aleem – volume: 38 start-page: 961 year: 2006 end-page: 962 ident: bib23 article-title: The ciliary proteome database: An integrated community resource for the genetic and functional dissection of cilia publication-title: Nat. Genet. contributor: fullname: Katsanis – volume: 21 start-page: 2095 year: 2002 end-page: 2106 ident: bib34 article-title: The complex of Arl2-GTP and PDE delta: from structure to function publication-title: EMBO J. contributor: fullname: Hillig – volume: 12 start-page: 767 year: 2007 end-page: 778 ident: bib19 article-title: The graded response to Sonic Hedgehog depends on cilia architecture publication-title: Dev. Cell contributor: fullname: Anderson – volume: 1 start-page: 113 year: 2004 end-page: 117 ident: bib16 article-title: A highly informative SNP linkage panel for human genetic studies publication-title: Nat. Methods contributor: fullname: Chee – volume: 22 start-page: 103 year: 1999 end-page: 114 ident: bib58 article-title: Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog publication-title: Neuron contributor: fullname: Scott – volume: 80 start-page: 186 year: 2007 end-page: 194 ident: bib15 article-title: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome publication-title: Am. J. Hum. Genet. contributor: fullname: Foliguet – volume: 426 start-page: 570 year: 2003 end-page: 574 ident: bib27 article-title: Proteomic characterization of the human centrosome by protein correlation profiling publication-title: Nature contributor: fullname: Mann – volume: 144 start-page: 131 year: 1972 end-page: 164 ident: bib44 article-title: Studies on the developing cerebellum. II. The ultrastructure of the external granular layer publication-title: J. Comp. Neurol. contributor: fullname: Snider – volume: 86 start-page: 459 year: 1999 end-page: 469 ident: bib4 article-title: Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome publication-title: Am. J. Med. Genet. contributor: fullname: Dobyns – volume: 27 start-page: 9780 year: 2007 end-page: 9789 ident: bib46 article-title: Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool publication-title: J. Neurosci. contributor: fullname: Millen – volume: 10 start-page: 1837 year: 1999 end-page: 1849 ident: bib18 article-title: A Rab2 mutant with impaired GTPase activity stimulates vesicle formation from pre-Golgi intermediates publication-title: Mol. Biol. Cell contributor: fullname: Tisdale – volume: 14 start-page: 687 year: 2004 end-page: 694 ident: bib48 article-title: Arf-like GTPases: Not so Arf-like after all publication-title: Trends Cell Biol. contributor: fullname: Gangi Setty – volume: 2 start-page: 234 year: 2001 end-page: 238 ident: bib36 article-title: The structural GDP/GTP cycle of human Arf6 publication-title: EMBO Rep. contributor: fullname: Cherfils – volume: 125A start-page: 125 year: 2004 end-page: 134 ident: bib7 article-title: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes publication-title: Am. J. Med. Genet. contributor: fullname: Dobyns – volume: 317 start-page: 246 year: 2008 end-page: 259 ident: bib60 article-title: Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool publication-title: Dev. Biol. contributor: fullname: Alvarez-Buylla – volume: 73 start-page: 663 year: 2003 end-page: 670 ident: bib54 article-title: Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation publication-title: Am. J. Hum. Genet. contributor: fullname: Dallapiccola – volume: 42 start-page: e9 year: 2005 ident: bib10 article-title: NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders publication-title: J. Med. Genet. contributor: fullname: Bertini – volume: 21 start-page: 3565 year: 2005 end-page: 3567 ident: bib17 article-title: easyLINKAGE-Plus—automated linkage analyses using large-scale SNP data publication-title: Bioinformatics contributor: fullname: Lindner – volume: 294 start-page: 1299 year: 2001 end-page: 1304 ident: bib35 article-title: The guanine nucleotide-binding switch in three dimensions publication-title: Science contributor: fullname: Wittinghofer – volume: 117 start-page: 527 year: 2004 end-page: 539 ident: bib29 article-title: Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis publication-title: Cell contributor: fullname: Zuker – volume: 1751 start-page: 119 year: 2005 end-page: 139 ident: bib37 article-title: How to study proteins by circular dichroism publication-title: Biochim. Biophys. Acta contributor: fullname: Price – volume: 38 start-page: 674 year: 2006 end-page: 681 ident: bib9 article-title: The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 publication-title: Nat. Genet. contributor: fullname: Fausett – volume: 165 start-page: 709 year: 2004 end-page: 721 ident: bib20 article-title: Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration publication-title: J. Cell Biol. contributor: fullname: Gleeson – volume: 71 start-page: 1251 year: 2002 end-page: 1252 ident: bib33 article-title: Detecting polymorphisms and mutations in candidate genes publication-title: Am. J. Hum. Genet. contributor: fullname: Schwartz – volume: 100 start-page: 384 year: 1985 end-page: 396 ident: bib21 article-title: Neuronal regulation of astroglial morphology and proliferation in vitro publication-title: J. Cell Biol. contributor: fullname: Hatten – volume: 36 start-page: 989 year: 2004 end-page: 993 ident: bib31 article-title: Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome publication-title: Nat. Genet. contributor: fullname: Compton – volume: 270 start-page: 393 year: 2004 end-page: 410 ident: bib59 article-title: Sonic hedgehog signaling is required for expansion of granule neuron precursors and patterning of the mouse cerebellum publication-title: Dev. Biol. contributor: fullname: McMahon – volume: 440 start-page: 224 year: 2006 end-page: 227 ident: bib26 article-title: Flagellar motility is required for the viability of the bloodstream trypanosome publication-title: Nature contributor: fullname: McKean – volume: 38 start-page: 623 year: 2006 end-page: 625 ident: bib8 article-title: Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome publication-title: Nat. Genet. contributor: fullname: Al-Gazali – volume: 32 start-page: 227 year: 1989 end-page: 232 ident: bib5 article-title: Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis publication-title: Am. J. Med. Genet. contributor: fullname: Lambotte – volume: 168 start-page: 1288 year: 2006 end-page: 1298 ident: bib57 article-title: ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development publication-title: Am. J. Pathol. contributor: fullname: Rice – volume: 91 start-page: 135 year: 2000 end-page: 137 ident: bib6 article-title: OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs publication-title: Am. J. Med. Genet. contributor: fullname: Konig – volume: 65 start-page: 1666 year: 1999 end-page: 1671 ident: bib55 article-title: Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity publication-title: Am. J. Hum. Genet. contributor: fullname: Bayoumi – volume: 132 start-page: 1923 year: 2005 end-page: 1934 ident: bib24 article-title: Analysis of publication-title: Development contributor: fullname: Swoboda – volume: 57 start-page: 513 year: 2005 end-page: 519 ident: bib56 article-title: Distinguishing the four genetic causes of Joubert syndrome-related disorders publication-title: Ann. Neurol. contributor: fullname: Boltshauser – volume: 13 start-page: 155 year: 2004 end-page: 164 ident: bib47 article-title: Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells publication-title: Transgenic Res. contributor: fullname: Gleeson – volume: 75 start-page: 475 year: 2004 end-page: 484 ident: bib32 article-title: Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3) publication-title: Am. J. Hum. Genet. contributor: fullname: Stone – volume: 131 start-page: 4085 year: 2004 end-page: 4093 ident: bib39 article-title: A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney publication-title: Development contributor: fullname: Hopkins – volume: 22 start-page: 491 year: 2006 end-page: 500 ident: bib22 article-title: Piecing together a ciliome publication-title: Trends Genet. contributor: fullname: Leroux – volume: 134 start-page: 2569 year: 2007 end-page: 2577 ident: bib14 article-title: Ftm is a novel basal body protein of cilia involved in Shh signalling publication-title: Development contributor: fullname: Ruther – volume: 117 start-page: 541 year: 2004 end-page: 552 ident: bib28 article-title: Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene publication-title: Cell contributor: fullname: Leitch – volume: 73 start-page: 656 year: 2003 end-page: 662 ident: bib53 article-title: Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3 publication-title: Am. J. Hum. Genet. contributor: fullname: Gleeson – volume: 505 start-page: 562 year: 2007 end-page: 571 ident: bib45 article-title: Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain publication-title: J. Comp. Neurol. contributor: fullname: Mykytyn – volume: 81 start-page: 104 year: 2007 end-page: 113 ident: bib50 article-title: CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders publication-title: Am. J. Hum. Genet. contributor: fullname: Al-Gazali – volume: 43 start-page: 334 year: 2006 end-page: 339 ident: bib51 article-title: AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome publication-title: J. Med. Genet. contributor: fullname: Dohayan – volume: 165 start-page: 127 year: 1969 end-page: 130 ident: bib43 article-title: The Purkinje cell cilium publication-title: Anat. Rec. contributor: fullname: Snider – volume: 100 start-page: 3965 year: 2003 end-page: 3970 ident: bib42 article-title: The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis publication-title: Proc. Natl. Acad. Sci. USA contributor: fullname: Li – volume: 12 start-page: 423 year: 1997 end-page: 430 ident: bib2 article-title: “Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation publication-title: J. Child Neurol. contributor: fullname: Ringdahl – volume: 39 start-page: 882 year: 2007 end-page: 888 ident: bib12 article-title: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome publication-title: Nat. Genet. contributor: fullname: Kartono – volume: 13 start-page: 2713 year: 1999 end-page: 2724 ident: bib40 article-title: A large-scale insertional mutagenesis screen in zebrafish publication-title: Genes Dev. contributor: fullname: Hopkins – volume: 75 start-page: 82 year: 2004 end-page: 91 ident: bib11 article-title: The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome publication-title: Am. J. Hum. Genet. contributor: fullname: Glass – volume: 15 start-page: 935 year: 2005 end-page: 941 ident: bib25 article-title: Functional genomics of the cilium, a sensory organelle publication-title: Curr. Biol. contributor: fullname: Mah – volume: 59 start-page: 709 year: 1984 end-page: 718 ident: bib3 article-title: Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation publication-title: Arch. Dis. Child. contributor: fullname: Stephenson – volume: 70 start-page: 556 year: 2008 end-page: 565 ident: bib38 article-title: The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families publication-title: Neurology contributor: fullname: Gleeson – volume: 39 start-page: 875 year: 2007 end-page: 881 ident: bib13 article-title: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome publication-title: Nat. Genet. contributor: fullname: Ozilou – volume: 23 start-page: 579 year: 2007 end-page: 611 ident: bib49 article-title: The small G proteins of the Arf family and their regulators publication-title: Annu. Rev. Cell Dev. Biol. contributor: fullname: Munro – volume: 1 start-page: 47 year: 2006 ident: bib1 article-title: Autosomal recessive cerebellar ataxias publication-title: Orphanet J. Rare Dis. contributor: fullname: Espinos – volume: 102 start-page: 3703 year: 2005 end-page: 3707 ident: bib30 article-title: Genome-wide transcriptional analysis of flagellar regeneration in publication-title: Proc. Natl. Acad. Sci. USA contributor: fullname: Marshall – volume: 12 start-page: 423 year: 1997 ident: 10.1016/j.ajhg.2008.06.023_bib2 article-title: “Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation publication-title: J. Child Neurol. doi: 10.1177/088307389701200703 contributor: fullname: Maria – volume: 505 start-page: 562 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib45 article-title: Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain publication-title: J. Comp. Neurol. doi: 10.1002/cne.21510 contributor: fullname: Bishop – volume: 132 start-page: 1923 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib24 article-title: Analysis of xbx genes in C. elegans publication-title: Development doi: 10.1242/dev.01775 contributor: fullname: Efimenko – volume: 117 start-page: 527 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib29 article-title: Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis publication-title: Cell doi: 10.1016/S0092-8674(04)00412-X contributor: fullname: Avidor-Reiss – volume: 294 start-page: 1299 year: 2001 ident: 10.1016/j.ajhg.2008.06.023_bib35 article-title: The guanine nucleotide-binding switch in three dimensions publication-title: Science doi: 10.1126/science.1062023 contributor: fullname: Vetter – volume: 1 start-page: 113 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib16 article-title: A highly informative SNP linkage panel for human genetic studies publication-title: Nat. Methods doi: 10.1038/nmeth712 contributor: fullname: Murray – volume: 75 start-page: 475 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib32 article-title: Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3) publication-title: Am. J. Hum. Genet. doi: 10.1086/423903 contributor: fullname: Chiang – volume: 125A start-page: 125 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib7 article-title: Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.a.20437 contributor: fullname: Gleeson – volume: 42 start-page: e9 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib10 article-title: NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders publication-title: J. Med. Genet. doi: 10.1136/jmg.2004.027375 contributor: fullname: Castori – volume: 2 start-page: 234 year: 2001 ident: 10.1016/j.ajhg.2008.06.023_bib36 article-title: The structural GDP/GTP cycle of human Arf6 publication-title: EMBO Rep. doi: 10.1093/embo-reports/kve043 contributor: fullname: Pasqualato – volume: 134 start-page: 2569 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib14 article-title: Ftm is a novel basal body protein of cilia involved in Shh signalling publication-title: Development doi: 10.1242/dev.003715 contributor: fullname: Vierkotten – volume: 14 start-page: 687 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib48 article-title: Arf-like GTPases: Not so Arf-like after all publication-title: Trends Cell Biol. doi: 10.1016/j.tcb.2004.10.004 contributor: fullname: Burd – volume: 43 start-page: 334 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib51 article-title: AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome publication-title: J. Med. Genet. doi: 10.1136/jmg.2005.036608 contributor: fullname: Parisi – volume: 1751 start-page: 119 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib37 article-title: How to study proteins by circular dichroism publication-title: Biochim. Biophys. Acta doi: 10.1016/j.bbapap.2005.06.005 contributor: fullname: Kelly – volume: 65 start-page: 1666 year: 1999 ident: 10.1016/j.ajhg.2008.06.023_bib55 article-title: Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity publication-title: Am. J. Hum. Genet. doi: 10.1086/302655 contributor: fullname: Saar – volume: 32 start-page: 227 year: 1989 ident: 10.1016/j.ajhg.2008.06.023_bib5 article-title: Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis publication-title: Am. J. Med. Genet. doi: 10.1002/ajmg.1320320217 contributor: fullname: Verloes – volume: 102 start-page: 3703 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib30 article-title: Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.0408358102 contributor: fullname: Stolc – volume: 39 start-page: 882 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib12 article-title: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome publication-title: Nat. Genet. doi: 10.1038/ng2069 contributor: fullname: Arts – volume: 21 start-page: 2095 year: 2002 ident: 10.1016/j.ajhg.2008.06.023_bib34 article-title: The complex of Arl2-GTP and PDE delta: from structure to function publication-title: EMBO J. doi: 10.1093/emboj/21.9.2095 contributor: fullname: Hanzal-Bayer – volume: 270 start-page: 393 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib59 article-title: Sonic hedgehog signaling is required for expansion of granule neuron precursors and patterning of the mouse cerebellum publication-title: Dev. Biol. doi: 10.1016/j.ydbio.2004.03.007 contributor: fullname: Lewis – volume: 71 start-page: 1251 year: 2002 ident: 10.1016/j.ajhg.2008.06.023_bib33 article-title: Detecting polymorphisms and mutations in candidate genes publication-title: Am. J. Hum. Genet. doi: 10.1086/344344 contributor: fullname: Collins – volume: 39 start-page: 889 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib41 article-title: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis publication-title: Nat. Genet. doi: 10.1038/ng2066 contributor: fullname: den Hollander – volume: 38 start-page: 674 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib9 article-title: The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 publication-title: Nat. Genet. doi: 10.1038/ng1786 contributor: fullname: Sayer – volume: 73 start-page: 663 year: 2003 ident: 10.1016/j.ajhg.2008.06.023_bib54 article-title: Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation publication-title: Am. J. Hum. Genet. doi: 10.1086/378241 contributor: fullname: Valente – volume: 117 start-page: 541 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib28 article-title: Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene publication-title: Cell doi: 10.1016/S0092-8674(04)00450-7 contributor: fullname: Li – volume: 80 start-page: 186 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib15 article-title: The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome publication-title: Am. J. Hum. Genet. doi: 10.1086/510499 contributor: fullname: Baala – volume: 27 start-page: 9780 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib46 article-title: Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.5586-06.2007 contributor: fullname: Chizhikov – volume: 23 start-page: 579 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib49 article-title: The small G proteins of the Arf family and their regulators publication-title: Annu. Rev. Cell Dev. Biol. doi: 10.1146/annurev.cellbio.23.090506.123209 contributor: fullname: Gillingham – volume: 21 start-page: 3565 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib17 article-title: easyLINKAGE-Plus—automated linkage analyses using large-scale SNP data publication-title: Bioinformatics doi: 10.1093/bioinformatics/bti571 contributor: fullname: Hoffmann – volume: 100 start-page: 384 year: 1985 ident: 10.1016/j.ajhg.2008.06.023_bib21 article-title: Neuronal regulation of astroglial morphology and proliferation in vitro publication-title: J. Cell Biol. doi: 10.1083/jcb.100.2.384 contributor: fullname: Hatten – volume: 38 start-page: 961 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib23 article-title: The ciliary proteome database: An integrated community resource for the genetic and functional dissection of cilia publication-title: Nat. Genet. doi: 10.1038/ng0906-961 contributor: fullname: Gherman – volume: 73 start-page: 656 year: 2003 ident: 10.1016/j.ajhg.2008.06.023_bib53 article-title: Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3 publication-title: Am. J. Hum. Genet. doi: 10.1086/378206 contributor: fullname: Keeler – volume: 36 start-page: 989 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib31 article-title: Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome publication-title: Nat. Genet. doi: 10.1038/ng1414 contributor: fullname: Fan – volume: 168 start-page: 1288 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib57 article-title: ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development publication-title: Am. J. Pathol. doi: 10.2353/ajpath.2006.050941 contributor: fullname: Schrick – volume: 1 start-page: 47 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib1 article-title: Autosomal recessive cerebellar ataxias publication-title: Orphanet J. Rare Dis. doi: 10.1186/1750-1172-1-47 contributor: fullname: Palau – volume: 12 start-page: 767 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib19 article-title: The graded response to Sonic Hedgehog depends on cilia architecture publication-title: Dev. Cell doi: 10.1016/j.devcel.2007.03.004 contributor: fullname: Caspary – volume: 10 start-page: 1837 year: 1999 ident: 10.1016/j.ajhg.2008.06.023_bib18 article-title: A Rab2 mutant with impaired GTPase activity stimulates vesicle formation from pre-Golgi intermediates publication-title: Mol. Biol. Cell doi: 10.1091/mbc.10.6.1837 contributor: fullname: Tisdale – volume: 75 start-page: 82 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib11 article-title: The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome publication-title: Am. J. Hum. Genet. doi: 10.1086/421846 contributor: fullname: Parisi – volume: 59 start-page: 527 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib52 article-title: AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders publication-title: Ann. Neurol. doi: 10.1002/ana.20749 contributor: fullname: Valente – volume: 426 start-page: 570 year: 2003 ident: 10.1016/j.ajhg.2008.06.023_bib27 article-title: Proteomic characterization of the human centrosome by protein correlation profiling publication-title: Nature doi: 10.1038/nature02166 contributor: fullname: Andersen – volume: 100 start-page: 3965 year: 2003 ident: 10.1016/j.ajhg.2008.06.023_bib42 article-title: The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis publication-title: Proc. Natl. Acad. Sci. USA doi: 10.1073/pnas.0637349100 contributor: fullname: Zhao – volume: 38 start-page: 623 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib8 article-title: Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome publication-title: Nat. Genet. doi: 10.1038/ng1805 contributor: fullname: Valente – volume: 22 start-page: 491 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib22 article-title: Piecing together a ciliome publication-title: Trends Genet. doi: 10.1016/j.tig.2006.07.006 contributor: fullname: Inglis – volume: 57 start-page: 513 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib56 article-title: Distinguishing the four genetic causes of Joubert syndrome-related disorders publication-title: Ann. Neurol. doi: 10.1002/ana.20422 contributor: fullname: Valente – volume: 144 start-page: 131 year: 1972 ident: 10.1016/j.ajhg.2008.06.023_bib44 article-title: Studies on the developing cerebellum. II. The ultrastructure of the external granular layer publication-title: J. Comp. Neurol. doi: 10.1002/cne.901440202 contributor: fullname: Del Cerro – volume: 13 start-page: 155 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib47 article-title: Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells publication-title: Transgenic Res. doi: 10.1023/B:TRAG.0000026071.41735.8e contributor: fullname: Higginbotham – volume: 22 start-page: 103 year: 1999 ident: 10.1016/j.ajhg.2008.06.023_bib58 article-title: Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog publication-title: Neuron doi: 10.1016/S0896-6273(00)80682-0 contributor: fullname: Wechsler-Reya – volume: 70 start-page: 556 year: 2008 ident: 10.1016/j.ajhg.2008.06.023_bib38 article-title: The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families publication-title: Neurology doi: 10.1212/01.wnl.0000277644.12087.fd contributor: fullname: Zaki – volume: 86 start-page: 459 year: 1999 ident: 10.1016/j.ajhg.2008.06.023_bib4 article-title: Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome publication-title: Am. J. Med. Genet. doi: 10.1002/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C contributor: fullname: Satran – volume: 91 start-page: 135 year: 2000 ident: 10.1016/j.ajhg.2008.06.023_bib6 article-title: OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs publication-title: Am. J. Med. Genet. doi: 10.1002/(SICI)1096-8628(20000313)91:2<135::AID-AJMG11>3.0.CO;2-1 contributor: fullname: Haug – volume: 165 start-page: 709 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib20 article-title: Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration publication-title: J. Cell Biol. doi: 10.1083/jcb.200309025 contributor: fullname: Tanaka – volume: 440 start-page: 224 year: 2006 ident: 10.1016/j.ajhg.2008.06.023_bib26 article-title: Flagellar motility is required for the viability of the bloodstream trypanosome publication-title: Nature doi: 10.1038/nature04541 contributor: fullname: Broadhead – volume: 165 start-page: 127 year: 1969 ident: 10.1016/j.ajhg.2008.06.023_bib43 article-title: The Purkinje cell cilium publication-title: Anat. Rec. doi: 10.1002/ar.1091650202 contributor: fullname: Del Cerro – volume: 81 start-page: 104 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib50 article-title: CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders publication-title: Am. J. Hum. Genet. doi: 10.1086/519026 contributor: fullname: Brancati – volume: 131 start-page: 4085 year: 2004 ident: 10.1016/j.ajhg.2008.06.023_bib39 article-title: A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney publication-title: Development doi: 10.1242/dev.01240 contributor: fullname: Sun – volume: 15 start-page: 935 year: 2005 ident: 10.1016/j.ajhg.2008.06.023_bib25 article-title: Functional genomics of the cilium, a sensory organelle publication-title: Curr. Biol. doi: 10.1016/j.cub.2005.04.059 contributor: fullname: Blacque – volume: 317 start-page: 246 year: 2008 ident: 10.1016/j.ajhg.2008.06.023_bib60 article-title: Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool publication-title: Dev. Biol. doi: 10.1016/j.ydbio.2008.02.026 contributor: fullname: Spassky – volume: 59 start-page: 709 year: 1984 ident: 10.1016/j.ajhg.2008.06.023_bib3 article-title: Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation publication-title: Arch. Dis. Child. doi: 10.1136/adc.59.8.709 contributor: fullname: King – volume: 39 start-page: 875 year: 2007 ident: 10.1016/j.ajhg.2008.06.023_bib13 article-title: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome publication-title: Nat. Genet. doi: 10.1038/ng2039 contributor: fullname: Delous – volume: 13 start-page: 2713 year: 1999 ident: 10.1016/j.ajhg.2008.06.023_bib40 article-title: A large-scale insertional mutagenesis screen in zebrafish publication-title: Genes Dev. doi: 10.1101/gad.13.20.2713 contributor: fullname: Amsterdam |
| SSID | ssj0011803 |
| Score | 2.48512 |
| Snippet | Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with... Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with... Joubert syndrome (JS) and related disorders are a group of autosomal- recessive conditions sharing the "molar tooth sign" on axial brain MRI, together with... |
| SourceID | pubmedcentral proquest crossref pubmed pascalfrancis elsevier |
| SourceType | Open Access Repository Aggregation Database Index Database Publisher |
| StartPage | 170 |
| SubjectTerms | Abnormalities, Multiple - genetics ADP-Ribosylation Factors - genetics Animals Biological and medical sciences Brain Diseases - genetics Chromosome Mapping Cilia - metabolism Computational Biology Conserved Sequence Danio rerio Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Humans Malformations of the nervous system Medical genetics Medical sciences Molecular and cellular biology Molecular Sequence Data Mutation Neurology Neurons - metabolism Syndrome Zebrafish |
| SummonAdditionalLinks | – databaseName: Elsevier Open Archive Journals dbid: ABVKL link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1JbxMxFLaqVpWQECqUJS0UH7ihod7GnhzTiKiCthJLUW8jO7bpVGgSNcmh_77vxZ6UIMKB69iWZ976efwWQt5VVQy-4qHgJupCKaEKZ50vZASJceDCzfJX9vmFPr1Un67Kqy0y7HJhMKwy2_5k05fWOj85ztQ8njYN5vgyAc7dIOYBtwTn9h2sZQ6ivTM4-fH5bHWZwCsmOxSMC3LuTArzsjfXP3NIpf7AhNzknx5P7QyoFlO7i7_h0T_DKn_zU6M98iQDTDpI3_CUbIX2GdlNLSfv9smX80W6fJ_RpqWA_uiw-dVYiuWn6eDrGZcnFNtu0vkkjSK6RkbSEaBbOokUdsBgbPot1zp4Ti5HH78PT4vcVqEYa87nhe-b6DXQLhqmLLDKV8wpZyupY7SWawtKLGIZuFciisCtNTLKAGAlBi6tfEG220kbXhHK_LjPAldRekBioM1w2LbKuMo5Nhbc98j7jpj1NFXPqLuwspsaSZ_bYOoaSN8jZUfvek0GajDv_1x3tMac1VYC0R2cz3rkbcetGrQHr0RsGyaLWY3ZktiqePMMAaAQewJsnqH7EoxeCa_xMvH_4VMrDae1kveIWZOM1QSs7b0-0jbXyxrf2BKcGXHwnyQ5JI9SYAtGKr4m2_PbRXgD6GnujrJ23AMWDhga priority: 102 providerName: Elsevier |
| Title | Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome |
| URI | https://dx.doi.org/10.1016/j.ajhg.2008.06.023 https://www.ncbi.nlm.nih.gov/pubmed/18674751 https://search.proquest.com/docview/19564516 https://search.proquest.com/docview/20252874 https://search.proquest.com/docview/69387053 https://pubmed.ncbi.nlm.nih.gov/PMC2495072 |
| Volume | 83 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LbxMxELbaIiSkCpVXCdDgAze0yfqx9uaYRI1a2iBeRbmt7LVNt2o3UZMc-PeM197SIMKBy15sy7ueGc83688zCL3Lc2dNTmxCpBMJ55QnWmmTMAcao8GFy-ZX9vSjOLngH2bZbAdl7V2YhrRf6qpXX9_06uqy4VYubsp-yxPrf5qOfb3kVNL-LtoF99uG6PHogOQpazEv-H4Zb8oEUpe6uvwRCZSiB-7K5wzNBUDqjGxzTPsLtYTlcqHOxd-A6J98ynsOanKAHkdkiYfhC56gHVs_RQ9Drcmfz9Dn6Tqcui9xVWOAfXhcXVcK-7zTePjlnLAR9vU28WoeWj2s9hLEE4C1eO4wzOBZ2PhrTHLwHF1Mjr-NT5JYTyEpBSGrxAykMyKlAydTrkBGJk811ypnwjmliFBgvdRllhhOHbVEKckcs4BSnCVMsRdor57X9iXCqSkHqSXcMQMQDMwYomzFpc61TktKTAe9bxezWIS0GUXLJ7sqvBRi_UtRgBQ6KGvXu4iOPzj0Avb1f47rbgjnbirqYR0EZh30tpVWAWbjz0JUbefrZeGvSfoaxdt7UECDvhjA9h5iwGC3y-A1DoP8f39q1KkOkhuacdfBJ_XebAFdb5J7R91-9d8jX6NHgdPiSYpv0N7qdm2PADitdBc9GI6-n513IXQ4PYPn6WzUbYznF9YUGnw |
| link.rule.ids | 230,314,727,780,784,885,3506,27569,27924,27925,45663,45874,53791,53793 |
| linkProvider | National Library of Medicine |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LbxMxELZKEQIJId6ER-sDN7TJ-rH27rFERAGSikcr9WbZa5tu1W4ikhz494zX3kIQ4cDZtrz2jD2f15_nQ-h1WXpnS-IyIr3IOKc8M9rYjHnwGAMhXHa_sufHYnrKP5wVZ3uo6N_CdKT92jTD9vJq2DbnHbdyeVWPep7Y6NN8HPSSc0lHN9DNgsmK9If0dHlAypz1qBeiv0xvZSKtS1-cf0sUSjGEgBWyhpYCQHVBdoWmu0u9ggnzUenib1D0T0blbyFqch_dS9gSH8UxPEB7rn2IbkW1yR-P0Of5Jt67r3DTYgB-eNxcNhqHzNP46MuMsLc4KG7i9SKWBmAdbIgnAGzxwmPoIfCw8deU5uAxOp28OxlPs6SokNWCkHVmK-mtyGnlZc41WMmWueFGl0x4rzURGtYv9YUjllNPHdFaMs8c4BTvCNPsCdpvF617hnBu6yp3hHtmAYTBQoZztubSlMbkNSV2gN70k6mWMXGG6hllFypYISlgCgVWGKCin2-VQn8M6Qp29n-2O9gyznVXNAA7OJoN0GFvLQULJ9yG6NYtNisVHkoGleLdNSjgwSAHsLuGqBjsdwV8xtNo_19DTT41QHLLM64rhLTe2yXg7V167-Tdz_-75SG6PT2Zz9Ts_fHHF-hOZLgEyuJLtL_-vnGvAEatzUG3aH4Cs-oaQQ |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LbxMxELagCIRUVbwKoaX1gRvaZP1Ye3MsKVGBpiqPSr1Z9tqmW7WbqEkO_HvGa29pEOHA2ba89ow9n9ef50PobVl6Z0viMiK9yDinPDPa2Ix58BgDIVy2v7InJ-LojH86L87vSH21pP3K1P3m6rrf1Bctt3J2XQ06ntjgdDIKesm5pIOZ9YP76EHBwMm6g3q6QCBlzjrkCwhApvcykdqlLy9-JBql6EPQCplDSwHAuiDrwtPmTM9h0nxUu_gbHP2TVXknTI2foK2EL_FBHMdTdM81z9DDqDj58zn6MlnGu_c5rhsM4A-P6qta45B9Gh98PSbsPQ6qm3gxjaUBXAc74jGAWzz1GHoIXGz8LaU6eIHOxh--j46ypKqQVYKQRWaH0luR06GXOddgKVvmhhtdMuG91kRoWMPUF45YTj11RGvJPHOAVbwjTLNttNFMG_cK4dxWw9wR7pkFIAaLGc7amktTGpNXlNgeetdNpprF5BmqY5VdqmCFpIIpFFihh4puvlUK_zGsK9jd_9lub8U4t13RAO7geNZD-521FCyecCOiGzddzlV4LBmUitfXoIAJgyTA-hpiyGDPK-AzXkb7_x5q8qkekiuecVshpPZeLQGPb1N8Jw9__d8t99Gj08OxOv548nkHPY4kl8Ba3EUbi5ulewNIamH22jXzC76KG1Q |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Mutations+in+the+cilia+gene+ARL13B+lead+to+the+classical+form+of+Joubert+syndrome&rft.jtitle=American+journal+of+human+genetics&rft.au=Cantagrel%2C+Vincent&rft.au=Silhavy%2C+Jennifer+L&rft.au=Bielas%2C+Stephanie+L&rft.au=Swistun%2C+Dominika&rft.date=2008-08-01&rft.eissn=1537-6605&rft.volume=83&rft.issue=2&rft.spage=170&rft_id=info:doi/10.1016%2Fj.ajhg.2008.06.023&rft_id=info%3Apmid%2F18674751&rft.externalDocID=18674751 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0002-9297&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0002-9297&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0002-9297&client=summon |