TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous sp...
Saved in:
| Published in | eLife Vol. 4 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
eLife Sciences Publications, Ltd
19.09.2015
eLife Sciences Publications Ltd |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects. |
|---|---|
| AbstractList | Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus,
JBTS23
, with a homozygous splice site mutation in
KIAA0586
(alias
TALPID3
), a known lethal ciliopathy locus in model organisms. Truncating
KIAA0586
mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects.
DOI:
http://dx.doi.org/10.7554/eLife.08077.001
Joubert syndrome is a rare and severe neurodevelopmental disease in which two parts of the brain called the cerebellar vermis and brainstem do not develop properly. The disease is caused by defects in the formation of small projections from the surface of cells, called cilia, which are essential for signalling processes inside cells. Mutations in at least 25 genes are known to cause Joubert syndrome, and all encode proteins that create or maintain cilia. However, these mutations account for only half of the cases that have been studied, which indicates that mutations in other genes may also cause Joubert syndrome.
Here, Stephen et al. used genetic techniques called ‘homozygosity mapping’ and ‘whole-exome sequencing’ to search for other mutations that might cause the disease. They found that mutations in a gene encoding a protein called KIAA0586 also cause Joubert syndrome in humans. One of these mutations (c.428delG) is unexpectedly common in the healthy human population. It might be a major contributor to Joubert syndrome, and the manifestation of Joubert syndrome in individuals with this mutation might depend on the presence and nature of other mutations in
KIAA0586
and in other genes.
The TALPID3 protein in chickens and other ‘model’ animals is the equivalent of human KIAA0586. A loss of TALPID3 protein in animals has been shown to stop cilia from forming. This protein is found in a structure called the basal body, which is part of a larger structure called the centrosome that anchors cilia to the cell. Here, Stephen et al. show that this is also true in mouse and human eye cells.
Further experiments using chicken embryos show that a loss of the TALPID3 protein alters the location of centrosomes inside cells. TALPID3 is also required for cells and organs to develop the correct polarity, that is, directional differences in their structure and shape. The centrosomes of chicken brain cells that lacked TALPID3 were poorly positioned at the cell surface and abnormally long, which is likely responsible for the cilia failing to form.
Stephen et al.'s findings suggest that KIAA0586 is also important for human development through its ability to control the centrosome. Defects in TALPID3 have a more severe effect on animal models than many of the identified
KIAA0586
mutations have on humans. Therefore, the next step in this research is to find a more suitable animal in which to study the role of this protein, which may inform efforts to develop treatments for Joubert syndrome.
DOI:
http://dx.doi.org/10.7554/eLife.08077.002 Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects. Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23 , with a homozygous splice site mutation in KIAA0586 (alias TALPID3 ), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects. Joubert syndrome is a rare and severe neurodevelopmental disease in which two parts of the brain called the cerebellar vermis and brainstem do not develop properly. The disease is caused by defects in the formation of small projections from the surface of cells, called cilia, which are essential for signalling processes inside cells. Mutations in at least 25 genes are known to cause Joubert syndrome, and all encode proteins that create or maintain cilia. However, these mutations account for only half of the cases that have been studied, which indicates that mutations in other genes may also cause Joubert syndrome. Here, Stephen et al. used genetic techniques called ‘homozygosity mapping’ and ‘whole-exome sequencing’ to search for other mutations that might cause the disease. They found that mutations in a gene encoding a protein called KIAA0586 also cause Joubert syndrome in humans. One of these mutations (c.428delG) is unexpectedly common in the healthy human population. It might be a major contributor to Joubert syndrome, and the manifestation of Joubert syndrome in individuals with this mutation might depend on the presence and nature of other mutations in KIAA0586 and in other genes. The TALPID3 protein in chickens and other ‘model’ animals is the equivalent of human KIAA0586. A loss of TALPID3 protein in animals has been shown to stop cilia from forming. This protein is found in a structure called the basal body, which is part of a larger structure called the centrosome that anchors cilia to the cell. Here, Stephen et al. show that this is also true in mouse and human eye cells. Further experiments using chicken embryos show that a loss of the TALPID3 protein alters the location of centrosomes inside cells. TALPID3 is also required for cells and organs to develop the correct polarity, that is, directional differences in their structure and shape. The centrosomes of chicken brain cells that lacked TALPID3 were poorly positioned at the cell surface and abnormally long, which is likely responsible for the cilia failing to form. Stephen et al.'s findings suggest that KIAA0586 is also important for human development through its ability to control the centrosome. Defects in TALPID3 have a more severe effect on animal models than many of the identified KIAA0586 mutations have on humans. Therefore, the next step in this research is to find a more suitable animal in which to study the role of this protein, which may inform efforts to develop treatments for Joubert syndrome. |
| Author | Nürnberg, Peter Rompel, Oliver Tebbe, Lars McTeir, Lynn Tawamie, Hasan Mill, Pleasantine Bolz, Hanno J Thoenes, Michaela Hall, Emma A Nürnberg, Gudrun Davis, Gemma M Boltshauser, Eugen Fraser, Amy M Daudet, Nicolas Wolfrum, Uwe Reis, André Thiele, Holger Cross, Courtney Jamra, Rami Abou Ekici, Arif B Stephen, Louise A Uebe, Steffen Davey, Megan G |
| Author_xml | – sequence: 1 givenname: Louise A orcidid: 0000-0001-6795-0383 surname: Stephen fullname: Stephen, Louise A organization: Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom – sequence: 2 givenname: Hasan surname: Tawamie fullname: Tawamie, Hasan organization: Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany – sequence: 3 givenname: Gemma M surname: Davis fullname: Davis, Gemma M organization: Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom – sequence: 4 givenname: Lars surname: Tebbe fullname: Tebbe, Lars organization: Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany – sequence: 5 givenname: Peter surname: Nürnberg fullname: Nürnberg, Peter organization: Cologne Cluster of Excellence, University of Cologne, Cologne, Germany – sequence: 6 givenname: Gudrun surname: Nürnberg fullname: Nürnberg, Gudrun organization: Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany – sequence: 7 givenname: Holger surname: Thiele fullname: Thiele, Holger organization: Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany – sequence: 8 givenname: Michaela surname: Thoenes fullname: Thoenes, Michaela organization: Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany – sequence: 9 givenname: Eugen surname: Boltshauser fullname: Boltshauser, Eugen organization: Department of Paediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland – sequence: 10 givenname: Steffen surname: Uebe fullname: Uebe, Steffen organization: Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany – sequence: 11 givenname: Oliver surname: Rompel fullname: Rompel, Oliver organization: Institute of Radiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany – sequence: 12 givenname: André surname: Reis fullname: Reis, André organization: Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany – sequence: 13 givenname: Arif B surname: Ekici fullname: Ekici, Arif B organization: Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany – sequence: 14 givenname: Lynn surname: McTeir fullname: McTeir, Lynn organization: Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom – sequence: 15 givenname: Amy M surname: Fraser fullname: Fraser, Amy M organization: Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom – sequence: 16 givenname: Emma A surname: Hall fullname: Hall, Emma A organization: Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom – sequence: 17 givenname: Pleasantine surname: Mill fullname: Mill, Pleasantine organization: Medical Research Council Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom – sequence: 18 givenname: Nicolas surname: Daudet fullname: Daudet, Nicolas organization: UCL Ear Institute, University College London, London, United Kingdom – sequence: 19 givenname: Courtney surname: Cross fullname: Cross, Courtney organization: School of Osteopathic Medicine, A.T. Still University, Mesa, United States – sequence: 20 givenname: Uwe surname: Wolfrum fullname: Wolfrum, Uwe organization: Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany – sequence: 21 givenname: Rami Abou surname: Jamra fullname: Jamra, Rami Abou organization: Institute of Human Genetics, Leipzig University, Leipzig, Germany – sequence: 22 givenname: Megan G surname: Davey fullname: Davey, Megan G organization: Division of Developmental Biology, The Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom – sequence: 23 givenname: Hanno J surname: Bolz fullname: Bolz, Hanno J organization: Bioscientia Center for Human Genetics, Bioscientia International Business, Ingelheim am Rhein, Germany |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26386247$$D View this record in MEDLINE/PubMed |
| BookMark | eNpVkc1rGzEQxUVJaRI3p96LjinBqT53pUvBTb-cGlqoC70J7e6srbC7ciRtwf99tXYaEl00mnn8NLx3jk4GPwBCbyi5LqUU76FzLVwTRcryBTpjRJI5UeLPyZP6FF3EeEfyKYVSVL9Cp6zgqmCiPEPjerH6ufzEce2HFHwXcQ1TEX0P2A5NfnYd3vnOBpf2h07aAt6OvR2wD2nrO7_B35eLBZGqwC7ifkw2QYPdgG_9WEFIOO6HJkzAy9uP61-Mv3uNXra2i3DxcM_Q7y-f1zff5qsfX5c3i9W8lpSneUM1oVDovDelhZKUNk0NrFJEMME0qVpeaGkZB2JJLVRFsobnEcim0kLwGVoeuY23d2YXXG_D3njrzKHhw8bYkFzdgaGcAGk1KwrJBatKpdvsaqW1kMJWWmbWhyNrN1Y9NAebbPcM-nwyuK3Z-L9GFIJOe83Q5QMg-PsRYjK9i5O9dgA_RkNLzqkWhPIsvTpK65xEDNA-fkOJmXI3sMq5m0PuWf326WaP2v8p838aVag0 |
| CitedBy_id | crossref_primary_10_3892_mmr_2016_6007 crossref_primary_10_1007_s00018_016_2315_x crossref_primary_10_1038_s41467_018_06286_y crossref_primary_10_3390_jdb9020012 crossref_primary_10_1016_j_jgg_2016_02_001 crossref_primary_10_1002_ajmg_a_61399 crossref_primary_10_1136_jmedgenet_2018_105470 crossref_primary_10_1007_s11825_019_0240_8 crossref_primary_10_1111_ahg_12537 crossref_primary_10_3390_genes9120605 crossref_primary_10_1016_j_ydbio_2015_10_024 crossref_primary_10_1097_MD_0000000000019169 crossref_primary_10_3390_ijms23179707 crossref_primary_10_1016_j_semcdb_2018_09_005 crossref_primary_10_1038_s41598_018_20489_9 crossref_primary_10_1136_jmedgenet_2016_103832 crossref_primary_10_1007_s00018_017_2740_5 crossref_primary_10_3390_cells11101628 crossref_primary_10_1093_hmg_ddac095 crossref_primary_10_1002_bies_201700132 crossref_primary_10_3390_jdb7020009 crossref_primary_10_1038_s41431_022_01267_8 crossref_primary_10_1016_j_ajhg_2018_08_015 crossref_primary_10_1136_jmg_2022_108725 crossref_primary_10_1038_s42003_021_02504_4 crossref_primary_10_1002_path_4843 crossref_primary_10_1016_j_semcdb_2020_10_014 crossref_primary_10_1186_s12881_020_01024_y crossref_primary_10_3389_fcell_2017_00014 crossref_primary_10_1038_s41467_020_16042_w crossref_primary_10_1038_s42003_023_05503_9 crossref_primary_10_7554_eLife_79299 crossref_primary_10_15252_embr_201947723 crossref_primary_10_1515_hsz_2017_0168 crossref_primary_10_1002_path_5271 crossref_primary_10_1002_jor_23707 crossref_primary_10_1101_cshperspect_a028175 crossref_primary_10_1186_s12920_023_01438_6 crossref_primary_10_3389_fnmol_2021_757646 crossref_primary_10_3390_ijms21175962 crossref_primary_10_1016_j_celrep_2016_09_089 crossref_primary_10_7554_eLife_12950 |
| Cites_doi | 10.1016/j.devcel.2009.12.022 10.1016/j.tig.2011.05.004 10.1016/j.ajhg.2011.04.019 10.1172/JCI43639 10.1016/j.ydbio.2006.08.017 10.1242/dev.028464 10.1016/j.bbadis.2011.05.005 10.1242/dev.063602 10.1371/journal.pone.0107943 10.1002/humu.22618 10.1002/dvdy.23980 10.1007/978-1-4020-5943-8_10 10.1016/S1474-4422(13)70136-4 10.1083/jcb.200911095 10.1038/nature11690 10.1002/humu.22737 10.1038/ejhg.2011.98 10.1002/jmor.1050880104 10.1136/jmedgenet-2015-103087 10.1016/j.ydbio.2004.03.007 10.1083/jcb.201304153 10.1242/dev.126.11.2397 10.1016/B978-0-12-394592-1.00011-9 10.1101/gad.369106 10.1016/1047-8477(92)90011-X 10.1111/j.1600-0854.2006.00516.x 10.1016/j.ajhg.2015.06.003 10.1002/humu.22821 10.1126/scisignal.2000405 10.1016/j.ajhg.2013.12.003 10.1093/hmg/ddp335 10.1038/ng.1078 10.1016/j.cub.2009.05.016 10.1016/S0091-679X(08)60630-5 10.1038/nrg2774 10.1016/j.preteyeres.2008.01.003 10.1101/gad.1462506 10.1186/2046-2530-2-9 10.1016/j.ydbio.2006.02.020 10.1091/mbc.E07-09-0902 10.1186/gm124 10.1242/dev.070862 10.1016/j.cell.2007.06.027 10.1093/hmg/ddv069 10.1111/cge.12301 10.1371/journal.pgen.1003928 10.1016/j.devcel.2013.09.011 10.1111/j.1432-0436.2004.07207006.x 10.1038/nature08895 10.1093/hmg/ddn277 10.1038/ng.3243 10.1074/jbc.M111.333245 10.1126/science.1191184 10.4161/org.28819 10.1016/j.bbamcr.2011.05.015 10.1086/507318 10.1093/hmg/ddm285 10.1038/nature02166 10.1016/j.cell.2007.03.053 10.1073/pnas.0906944106 10.7554/eLife.06602 |
| ContentType | Journal Article |
| Copyright | 2015, Stephen et al 2015 Stephen et al |
| Copyright_xml | – notice: 2015, Stephen et al 2015 Stephen et al |
| DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 7X8 5PM DOA |
| DOI | 10.7554/elife.08077 |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef MEDLINE - Academic PubMed Central (Full Participant titles) Directory of Open Access Journals |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef MEDLINE - Academic |
| DatabaseTitleList | MEDLINE CrossRef |
| Database_xml | – sequence: 1 dbid: DOA name: Directory of Open Access Journals(OpenAccess) url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 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: 3 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 |
| EISSN | 2050-084X |
| ExternalDocumentID | oai_doaj_org_article_130e0f92665342b789f080b99454ab95 10_7554_eLife_08077 26386247 |
| Genre | Research Support, Non-U.S. Gov't Journal Article |
| GrantInformation_xml | – fundername: Biotechnology and Biological Sciences Research Council grantid: BBS/E/R/00001614 – fundername: Medical Research Council grantid: MC_UU_12018/26 – fundername: Biotechnology and Biological Sciences Research Council grantid: BB/F024347/1 – fundername: ; – fundername: ; grantid: BB/F024347/1 – fundername: ; grantid: FP7/2009/241955 – fundername: ; grantid: AB393/2-2 |
| GroupedDBID | 3V. 53G 5VS 7X7 88E 88I 8FE 8FH 8FI 8FJ AAFWJ AAKDD ABUWG ACGFO ACGOD ACPRK ADBBV ADRAZ AENEX AFKRA ALIPV ALMA_UNASSIGNED_HOLDINGS AOIJS AZQEC BAWUL BBNVY BCNDV BENPR BHPHI BPHCQ BVXVI CCPQU CGR CUY CVF DIK DWQXO ECM EIF EMOBN FRP FYUFA GNUQQ GROUPED_DOAJ GX1 H13 HCIFZ HMCUK HYE IAO IEA IHR INH INR ISR ITC KQ8 LK8 M1P M2P M48 M7P M~E NPM NQS OK1 PGMZT PIMPY PQQKQ PROAC PSQYO RHF RHI RNS RPM UKHRP AAYXX CITATION 7X8 5PM AFPKN |
| ID | FETCH-LOGICAL-c513t-d1901e697481168511ddce2b80424290bf3695a23e0a0c48b08513242e5db9443 |
| IEDL.DBID | RPM |
| ISSN | 2050-084X |
| IngestDate | Tue Oct 22 15:07:54 EDT 2024 Tue Sep 17 21:25:03 EDT 2024 Fri Oct 25 03:43:21 EDT 2024 Fri Dec 06 03:32:06 EST 2024 Wed Oct 16 00:42:23 EDT 2024 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Keywords | human biology stem cells chicken Joubert syndrome developmental biology medicine centrosome ciliopathy Talpid3 mouse KIAA0586 cell polarity human |
| Language | English |
| License | This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use and redistribution provided that the original author and source are credited. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c513t-d1901e697481168511ddce2b80424290bf3695a23e0a0c48b08513242e5db9443 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These authors contributed equally to this work. |
| ORCID | 0000-0001-6795-0383 |
| OpenAccessLink | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641851/ |
| PMID | 26386247 |
| PQID | 1733194013 |
| PQPubID | 23479 |
| ParticipantIDs | doaj_primary_oai_doaj_org_article_130e0f92665342b789f080b99454ab95 pubmedcentral_primary_oai_pubmedcentral_nih_gov_4641851 proquest_miscellaneous_1733194013 crossref_primary_10_7554_eLife_08077 pubmed_primary_26386247 |
| PublicationCentury | 2000 |
| PublicationDate | 2015-09-19 |
| PublicationDateYYYYMMDD | 2015-09-19 |
| PublicationDate_xml | – month: 09 year: 2015 text: 2015-09-19 day: 19 |
| PublicationDecade | 2010 |
| PublicationPlace | England |
| PublicationPlace_xml | – name: England |
| PublicationTitle | eLife |
| PublicationTitleAlternate | Elife |
| PublicationYear | 2015 |
| Publisher | eLife Sciences Publications, Ltd eLife Sciences Publications Ltd |
| Publisher_xml | – name: eLife Sciences Publications, Ltd – name: eLife Sciences Publications Ltd |
| References | Via (bib59) 2010; 2 Fu (bib25) 2013; 493 Happe (bib29) 2011; 1812 Kobayashi (bib35a) 2014b Alby (bib4) 2015; 97 Riecken (bib45) 2015; 36 Davey (bib20) 2007; 301 Bachmann-Gagescu (bib7) 2015; 36 Trojan (bib57) 2008; 27 den Hollander (bib22) 2006; 79 Abou Jamra (bib1) 2011; 19 Christensen (bib16) 2007; 8 Romani (bib47) 2013; 12 Dafinger (bib17) 2011; 121 Kobayashi (bib35) 2014a; 204 Nieto (bib42) 1996; 51 Liem (bib39) 2009; 106 Maerker (bib40) 2008; 17 Roosing (bib48) 2015; 4 Cheung (bib15) 2009; 2 Lewis (bib37) 1999; 126 Davey (bib19) 2006; 20 Sedmak (bib50) 2010; 189 Davey (bib21) 2014; 10 Lee (bib36) 2012; 44 Tarchini (bib56) 2013; 27 Paintrand (bib44) 1992; 108 Stephen (bib54) 2013; 242 Carroll (bib14) 2012; 101 Tsang (bib58) 2013; 2 Hall (bib27) 2013; 9 Hamburger (bib28) 1951; 88 Kim (bib33) 2010; 329 Singla (bib51) 2010; 18 Beck (bib10) 2014; 35 Das (bib18) 2006; 294 Andersen (bib5) 2003; 426 Bachmann-Gagescu (bib6) 2015; 52 Sulem (bib55) 2015; 47 Filges (bib24) 2014; 86 Buxton (bib13) 2004; 72 Overlack (bib43) 2011; 1813 Roepman (bib46) 2007; 43 Bettencourt-Dias (bib12) 2011; 27 Spektor (bib53) 2007; 130 Ahmed (bib3) 2015; 24 Abou Jamra (bib2) 2011; 88 Kim (bib32) 2008; 17 Nachury (bib41) 2007; 129 Wu (bib60) 2014; 9 Lewis (bib38) 2004; 270 Kim (bib34) 2010; 464 Goetz (bib26) 2010; 11 Ben (bib11) 2011; 138 Feng (bib23) 2012; 287 Schmidt (bib49) 2009; 19 Bangs (bib8) 2011; 138 Henry (bib30) 2008; 19 Yin (bib61) 2009; 136 Kobayashi (bib35b) 2014c Solecki (bib52) 2006; 20 Basmanav (bib9) 2014; 94 Hsiao (bib31) 2009; 18 |
| References_xml | – volume: 18 start-page: 410 year: 2010 ident: bib51 article-title: Ofd1, a human disease gene, regulates the length and distal structure of centrioles publication-title: Developmental Cell doi: 10.1016/j.devcel.2009.12.022 contributor: fullname: Singla – volume: 27 start-page: 307 year: 2011 ident: bib12 article-title: Centrosomes and cilia in human disease publication-title: Trends in Genetics doi: 10.1016/j.tig.2011.05.004 contributor: fullname: Bettencourt-Dias – volume: 88 start-page: 788 year: 2011 ident: bib2 article-title: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature publication-title: American Journal of Human Genetics doi: 10.1016/j.ajhg.2011.04.019 contributor: fullname: Abou Jamra – volume: 121 start-page: 2662 year: 2011 ident: bib17 article-title: Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics publication-title: The Journal of Clinical Investigation doi: 10.1172/JCI43639 contributor: fullname: Dafinger – volume: 301 start-page: 155 year: 2007 ident: bib20 article-title: Analysis of talpid3 and wild-type chicken embryos reveals roles for Hedgehog signalling in development of the limb bud vasculature publication-title: Developmental Biology doi: 10.1016/j.ydbio.2006.08.017 contributor: fullname: Davey – volume: 136 start-page: 655 year: 2009 ident: bib61 article-title: The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation publication-title: Development doi: 10.1242/dev.028464 contributor: fullname: Yin – volume: 1812 start-page: 1249 year: 2011 ident: bib29 article-title: Polycystic kidney disease: the complexity of planar cell polarity and signaling during tissue regeneration and cyst formation publication-title: Biochimica et biophysica acta doi: 10.1016/j.bbadis.2011.05.005 contributor: fullname: Happe – volume: 138 start-page: 3261 year: 2011 ident: bib8 article-title: Generation of mice with functional inactivation of talpid3, a gene first identified in chicken publication-title: Development doi: 10.1242/dev.063602 contributor: fullname: Bangs – volume: 9 start-page: e107943 year: 2014 ident: bib60 article-title: Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors publication-title: PLOS ONE doi: 10.1371/journal.pone.0107943 contributor: fullname: Wu – volume: 35 start-page: 1153 year: 2014 ident: bib10 article-title: Mutation of POC1B in a severe syndromic retinal ciliopathy publication-title: Human Mutation doi: 10.1002/humu.22618 contributor: fullname: Beck – volume: 242 start-page: 923 year: 2013 ident: bib54 article-title: Failure of centrosome migration causes a loss of motile cilia in talpid(3) mutants publication-title: Developmental Dynamics doi: 10.1002/dvdy.23980 contributor: fullname: Stephen – volume: 43 start-page: 209 year: 2007 ident: bib46 article-title: Protein networks and complexes in photoreceptor cilia publication-title: Sub-cellular Biochemistry doi: 10.1007/978-1-4020-5943-8_10 contributor: fullname: Roepman – volume: 12 start-page: 894 year: 2013 ident: bib47 article-title: Joubert syndrome: congenital cerebellar ataxia with the molar tooth publication-title: Lancet Neurology doi: 10.1016/S1474-4422(13)70136-4 contributor: fullname: Romani – volume: 189 start-page: 171 year: 2010 ident: bib50 article-title: Intraflagellar transport molecules in ciliary and nonciliary cells of the retina publication-title: The Journal of Cell Biology doi: 10.1083/jcb.200911095 contributor: fullname: Sedmak – volume: 493 start-page: 216 year: 2013 ident: bib25 article-title: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants publication-title: Nature doi: 10.1038/nature11690 contributor: fullname: Fu – volume: 36 start-page: 270 year: 2015 ident: bib45 article-title: Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability publication-title: Human Mutation doi: 10.1002/humu.22737 contributor: fullname: Riecken – volume: 19 start-page: 1161 year: 2011 ident: bib1 article-title: Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity publication-title: European Journal of Human Genetics doi: 10.1038/ejhg.2011.98 contributor: fullname: Abou Jamra – volume: 88 start-page: 49 year: 1951 ident: bib28 article-title: A series of normal stages in the development of the chick embryo publication-title: Journal of Morphology doi: 10.1002/jmor.1050880104 contributor: fullname: Hamburger – volume: 52 start-page: 514 year: 2015 ident: bib6 article-title: Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity publication-title: Journal of Medical Genetics doi: 10.1136/jmedgenet-2015-103087 contributor: fullname: Bachmann-Gagescu – volume: 270 start-page: 393 year: 2004 ident: bib38 article-title: Sonic hedgehog signaling is required for expansion of granule neuron precursors and patterning of the mouse cerebellum publication-title: Developmental Biology doi: 10.1016/j.ydbio.2004.03.007 contributor: fullname: Lewis – volume: 204 start-page: 215 year: 2014a ident: bib35 article-title: The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly publication-title: The Journal of Cell Biology doi: 10.1083/jcb.201304153 contributor: fullname: Kobayashi – volume: 126 start-page: 2397 year: 1999 ident: bib37 article-title: Expression of ptc and gli genes in talpid3 suggests bifurcation in Shh pathway publication-title: Development doi: 10.1242/dev.126.11.2397 contributor: fullname: Lewis – volume: 101 start-page: 185 year: 2012 ident: bib14 article-title: The kidney and planar cell polarity publication-title: Current Topics in Developmental Biology doi: 10.1016/B978-0-12-394592-1.00011-9 contributor: fullname: Carroll – volume: 20 start-page: 1365 year: 2006 ident: bib19 article-title: The chicken talpid3 gene encodes a novel protein essential for Hedgehog signaling publication-title: Genes & Development doi: 10.1101/gad.369106 contributor: fullname: Davey – volume: 108 start-page: 107 year: 1992 ident: bib44 article-title: Centrosome organization and centriole architecture: their sensitivity to divalent cations publication-title: Journal of Structural Biology doi: 10.1016/1047-8477(92)90011-X contributor: fullname: Paintrand – volume: 8 start-page: 97 year: 2007 ident: bib16 article-title: Sensory cilia and integration of signal transduction in human health and disease publication-title: Traffic doi: 10.1111/j.1600-0854.2006.00516.x contributor: fullname: Christensen – volume: 97 start-page: 311 year: 2015 ident: bib4 article-title: Mutations in KIAA0586 cause lethal ciliopathies ranging from a Hydrolethalus phenotype to short-Rib polydactyly syndrome publication-title: American Journal of Human Genetics doi: 10.1016/j.ajhg.2015.06.003 contributor: fullname: Alby – volume: 36 start-page: 831 year: 2015 ident: bib7 article-title: KIAA0586 is mutated in joubert syndrome publication-title: Human Mutation doi: 10.1002/humu.22821 contributor: fullname: Bachmann-Gagescu – volume: 2 start-page: ra29 year: 2009 ident: bib15 article-title: The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling publication-title: Science Signaling doi: 10.1126/scisignal.2000405 contributor: fullname: Cheung – volume-title: NCBI Gene Expression Omnibus year: 2014b ident: bib35a article-title: Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA contributor: fullname: Kobayashi – volume: 94 start-page: 135 year: 2014 ident: bib9 article-title: Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease publication-title: American Journal of Human Genetics doi: 10.1016/j.ajhg.2013.12.003 contributor: fullname: Basmanav – volume: 18 start-page: 3926 year: 2009 ident: bib31 article-title: Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking publication-title: Human Molecular Genetics doi: 10.1093/hmg/ddp335 contributor: fullname: Hsiao – volume: 44 start-page: 193 year: 2012 ident: bib36 article-title: CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium publication-title: Nature Genetics doi: 10.1038/ng.1078 contributor: fullname: Lee – volume: 19 start-page: 1005 year: 2009 ident: bib49 article-title: Control of centriole length by CPAP and CP110 publication-title: Current Biology doi: 10.1016/j.cub.2009.05.016 contributor: fullname: Schmidt – volume-title: NCBI Gene Expression Omnibus year: 2014c ident: bib35b article-title: Homo sapiens KIAA0586 (KIAA0586), transcript variant 3, mRNA contributor: fullname: Kobayashi – volume: 51 start-page: 219 year: 1996 ident: bib42 article-title: In situ hybridization analysis of chick embryos in whole mount and tissue sections publication-title: Methods in Cell Biology doi: 10.1016/S0091-679X(08)60630-5 contributor: fullname: Nieto – volume: 11 start-page: 331 year: 2010 ident: bib26 article-title: The primary cilium: a signalling centre during vertebrate development publication-title: Nature Reviews Genetics doi: 10.1038/nrg2774 contributor: fullname: Goetz – volume: 27 start-page: 237 year: 2008 ident: bib57 article-title: Centrins in retinal photoreceptor cells: regulators in the connecting cilium publication-title: Progress in Retinal and Eye Research doi: 10.1016/j.preteyeres.2008.01.003 contributor: fullname: Trojan – volume: 20 start-page: 2639 year: 2006 ident: bib52 article-title: Neuronal polarity in CNS development publication-title: Genes & Development doi: 10.1101/gad.1462506 contributor: fullname: Solecki – volume: 2 start-page: 9 year: 2013 ident: bib58 article-title: CP110 and its network of partners coordinately regulate cilia assembly publication-title: Cilia doi: 10.1186/2046-2530-2-9 contributor: fullname: Tsang – volume: 294 start-page: 554 year: 2006 ident: bib18 article-title: A robust system for RNA interference in the chicken using a modified microRNA operon publication-title: Developmental Biology doi: 10.1016/j.ydbio.2006.02.020 contributor: fullname: Das – volume: 19 start-page: 2059 year: 2008 ident: bib30 article-title: Rab8 regulates basolateral secretory, but not recycling, traffic at the recycling endosome publication-title: Molecular Biology of the Cell doi: 10.1091/mbc.E07-09-0902 contributor: fullname: Henry – volume: 2 start-page: 3 year: 2010 ident: bib59 article-title: The 1000 Genomes Project: new opportunities for research and social challenges publication-title: Genome Medicine doi: 10.1186/gm124 contributor: fullname: Via – volume: 138 start-page: 4969 year: 2011 ident: bib11 article-title: Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates publication-title: Development doi: 10.1242/dev.070862 contributor: fullname: Ben – volume: 130 start-page: 678 year: 2007 ident: bib53 article-title: Cep97 and CP110 suppress a cilia assembly program publication-title: Cell doi: 10.1016/j.cell.2007.06.027 contributor: fullname: Spektor – volume: 24 start-page: 3172 year: 2015 ident: bib3 article-title: Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment publication-title: Human Molecular Genetics doi: 10.1093/hmg/ddv069 contributor: fullname: Ahmed – volume: 86 start-page: 220 year: 2014 ident: bib24 article-title: Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype publication-title: Clinical Genetics doi: 10.1111/cge.12301 contributor: fullname: Filges – volume: 9 start-page: e1003928 year: 2013 ident: bib27 article-title: Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes publication-title: PLOS Genetics doi: 10.1371/journal.pgen.1003928 contributor: fullname: Hall – volume: 27 start-page: 88 year: 2013 ident: bib56 article-title: A molecular blueprint at the apical surface establishes planar asymmetry in cochlear hair cells publication-title: Developmental Cell doi: 10.1016/j.devcel.2013.09.011 contributor: fullname: Tarchini – volume: 72 start-page: 348 year: 2004 ident: bib13 article-title: Craniofacial development in the talpid3 chicken mutant publication-title: Differentiation; Research in Biological Diversity doi: 10.1111/j.1432-0436.2004.07207006.x contributor: fullname: Buxton – volume: 464 start-page: 1048 year: 2010 ident: bib34 article-title: Functional genomic screen for modulators of ciliogenesis and cilium length publication-title: Nature doi: 10.1038/nature08895 contributor: fullname: Kim – volume: 17 start-page: 3796 year: 2008 ident: bib32 article-title: CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium publication-title: Human Molecular Genetics doi: 10.1093/hmg/ddn277 contributor: fullname: Kim – volume: 47 start-page: 448 year: 2015 ident: bib55 article-title: Identification of a large set of rare complete human knockouts publication-title: Nature Genetics doi: 10.1038/ng.3243 contributor: fullname: Sulem – volume: 287 start-page: 15602 year: 2012 ident: bib23 article-title: A Rab8 guanine nucleotide exchange factor-effector interaction network regulates primary ciliogenesis publication-title: The Journal of Biological Chemistry doi: 10.1074/jbc.M111.333245 contributor: fullname: Feng – volume: 329 start-page: 1337 year: 2010 ident: bib33 article-title: Planar cell polarity acts through septins to control collective cell movement and ciliogenesis publication-title: Science doi: 10.1126/science.1191184 contributor: fullname: Kim – volume: 10 start-page: 177 year: 2014 ident: bib21 article-title: Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant publication-title: Organogenesis doi: 10.4161/org.28819 contributor: fullname: Davey – volume: 1813 start-page: 1883 year: 2011 ident: bib43 article-title: Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina publication-title: Biochimica et biophysica acta doi: 10.1016/j.bbamcr.2011.05.015 contributor: fullname: Overlack – volume: 79 start-page: 556 year: 2006 ident: bib22 article-title: Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis publication-title: American Journal of Human Genetics doi: 10.1086/507318 contributor: fullname: den Hollander – volume: 17 start-page: 71 year: 2008 ident: bib40 article-title: A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells publication-title: Human Molecular Genetics doi: 10.1093/hmg/ddm285 contributor: fullname: Maerker – volume: 426 start-page: 570 year: 2003 ident: bib5 article-title: Proteomic characterization of the human centrosome by protein correlation profiling publication-title: Nature doi: 10.1038/nature02166 contributor: fullname: Andersen – volume: 129 start-page: 1201 year: 2007 ident: bib41 article-title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis publication-title: Cell doi: 10.1016/j.cell.2007.03.053 contributor: fullname: Nachury – volume: 106 start-page: 13377 year: 2009 ident: bib39 article-title: Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling publication-title: Proceedings of the National Academy of Sciences of USA doi: 10.1073/pnas.0906944106 contributor: fullname: Liem – volume: 4 start-page: e06602 year: 2015 ident: bib48 article-title: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome publication-title: eLife doi: 10.7554/eLife.06602 contributor: fullname: Roosing |
| SSID | ssj0000748819 |
| Score | 2.369391 |
| Snippet | Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for... |
| SourceID | doaj pubmedcentral proquest crossref pubmed |
| SourceType | Open Website Open Access Repository Aggregation Database Index Database |
| SubjectTerms | Abnormalities, Multiple - genetics Animals Cell Cycle Proteins - genetics Cell Polarity centrosome Centrosome - metabolism Cerebellum - abnormalities ciliopathy Developmental Biology and Stem Cells Disease Models, Animal Eye Abnormalities - genetics Human Biology and Medicine Humans Joubert syndrome KIAA0586 Kidney Diseases, Cystic - genetics Mice Mutation Retina - abnormalities Talpid3 |
| SummonAdditionalLinks | – databaseName: Directory of Open Access Journals dbid: DOA link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1LT8JAEN4YTl6Mxhe-siYc9FBp99XuEVQCiMZESLg1XXYbOVCIwP93ZgsEjIkXj912s9uZ7cw3u9NvCKlFmTTgmVWgcu0CAQAhSMCvBYkUBuC809bvQ76-qfZAdIdyuFXqC3PCSnrgUnB1sLEuzDX4EckFM3GicwA5RmshRWZ0yV4asq1gytvgGBZmpMsf8mJwmXXXG-fuAbrG8Y4L8kz9v8HLn1mSW26ndUgOVniRNsp5HpE9VxyTZb_Re-88cbpKNJ9T33s6n04czQpLcTuezjBqBZDtWwDnUV-Pj-JBDVo8-tJpNEKZKDqe08kSQael44LCkJhsTddcBvSu2-x_MH5_Qgat5_5jO1jVTwhGMuKLwKKzdwoihiSKFEIrCy_DTILHnUyHJudKy4xxF2bhSCQG4RcCLCet0ULwU1IppoU7J1SNmFXKs-07AeqFKAfkzyVcWW61qpLaWqTprKTJSCG8QMmnXvKpl3yVNFHcm0eQ29o3gMbTlcbTvzReJbdrZaXwLaBEs8JNl_M0wgKUGiPGKjkrlbcZioGhUUzAFOIdte7MZfdOMf70fNtCIcNPdPEfk78k-wC5JGacRPqKVBZfS3cNsGZhbvwK_gZdPPEe priority: 102 providerName: Directory of Open Access Journals – databaseName: Scholars Portal Journals: Open Access dbid: M48 link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjZ1LT8MwDIAjHhcuCMRrvBSkHeDQ0aZJ2pzQeEwwBkJik7hVzZLCJNbCuknw77GzDjHEgWMfUVq7iT8nrk1IPUiFBsssPZkp63EABC8Gu-bFgmvAeauMW4e8u5fXPd5-Ek8LZFaMsxJg-adrh_WkeqPXxsf75xkMeODXRgTW8NR2BpltAPpE0SJZZmASMbbrruJ8NyVH8J0Gavp_3u82cxbJJe7_izZ_B03-sEKtNbJa4SNtTvW9ThZsvkEm3Wbn4eYypFXceUld66IshpamuaG4Ok_f8E2Bud0ZwD7qyvNR3LfBCZDe3jSbvoglHZR0OEEGNXSQU-gSY6_pLLUBPW6fdx9ZeLJJeq2r7sW1V5VT8PoiCMeeQdtvJTgQcRBIJC0DL8N0jLufTPk6C6USKQutn_p9HmukMeQtK4xWnIdbZCkvcrtDqOwzI6VLvm85aBucHi4AvODIhEbJGqnPRJq8TbNmJOBtoOQTJ_nESb5GzlHc37dgqmt3ohg9J9XIwf0262cKQEKEnOkoVhk01kpBj6lWokaOZspKYGigRNPcFpMyCbAepUIHska2p8r77orBvCMZh0eI5tQ69yzzV_LBi0u_zSUm_Al2_9HvHlkBwBIYXxKofbI0Hk3sAUDMWB-6D_QLIlTu0w priority: 102 providerName: Scholars Portal |
| Title | TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/26386247 https://search.proquest.com/docview/1733194013 https://pubmed.ncbi.nlm.nih.gov/PMC4641851 https://doaj.org/article/130e0f92665342b789f080b99454ab95 |
| Volume | 4 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3fb9MwED5t44UXBOJXYFRG2gM8pE0c24kf27FpG-tUQSf1LYpjByLRpFrb_393bjK1iCdeIsWJZcffxfedfb4DOIsLaVAzq1BV2oUCCUKYoV4LMykM0nmnrV-HnN6pq3txs5CLI5D9WRjvtF-aetj8WQ6b-rf3rVwty1HvJzaaTc-FopAr8egYjlH97pnofvpNUSZ9Qg8eSR-3dLE7l5ei5hy527pyQ6RJKaXf4yh9ilNqlT2l5GP3_4tw_u03uaeILl_Ci45BsvGup6_gyDWvYTsf386uvyWscz1fM1-7XbdLx4rGMlqgZyuyY5F2-xJkfsxn6GO0dUNzIPt-PR5HMlOsXrPllmioZXXDsElyv2Z9dAP25WYy_8mTr2_g_vJifn4VdhkVwlLGySa0pP6dQhsii2NFZMvix3CT0QYo15GpEqVlwRMXFVEpMkOEjCiXk9ZoIZK3cNK0jXsPTJXcKuXj7zuBgKPdIyRyL7yzidUqgLN-SPPVLnBGjgYHgZB7EHIPQgATGu6nVyjatS9oH37lHea05eaiSiOXkIngJs10hZWN1thiYbQM4HMPVo5_B41o0bh2u85jSkmpyYYM4N0OvKemevADSA9gPejL4RMUSB-BuxPAD_9d8yM8R-YlyfEk1qdwsnnYuk_IbjZmgDK9SAfwbHJxN_sx8GsEeJ2KbODl_BHEPvmT |
| link.rule.ids | 230,314,727,780,784,864,885,2102,24318,27924,27925,31720,33745,53791,53793 |
| linkProvider | National Library of Medicine |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3JbtswEB2k6aG9FC26qenCAjm0B9mSuEg8OmkDO7GDAHUA3wRRpFIBtWTE9v9nhpYCu-ipRy0EJb4R5404fANwGhfSoGdWoaq0CwUShDBDvxZmUhik805b_x9ydq3Gt-JyIRdHIPu9MD5pvzT1oPmzHDT1b59buVqWwz5PbHgzOxeKJFfi4RN4Knmq470g3U_AKVqlL-mRRNIrly52O_NS9J1DN60rN0CilFIBvgTtTyVUXGXPLXn1_n9Rzr8zJ_dc0cVLeNFxSDbaPesrOHLNa9jOR9ObyQ_OuuTzNfOt23W7dKxoLKNf9GxFkSwSb38GuR_zNfoYLd7QLMiuJqNRJDPF6jVbbomIWlY3DLukBGzW6xuwb5dn818J__4Gbi9-zs_HYVdTISxlzDehJQLgFEYRWRwrolsWXyYxGS2BJjoyFVdaFgl3URGVIjNEyYh0OWmNFoK_heOmbdx7YKpMrFJegd8JhBwjHyGRfeGR5VarAE77Ic1XO-mMHEMOAiH3IOQehADOaLgfbyG9a3-ivb_LO9Rp0c1FlUY2IblITJrpChsbrbHHwmgZwNcerBy_DxrRonHtdp3HVJRSUxQZwLsdeI9d9eAHkB7AevAsh1fQJL0Gd2eCH_675Rd4Np7Ppvl0cn11As-Rh0lKQ4n1Rzje3G_dJ-Q6G_PZW_YDtMf4mA |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3JbtswECXSFCh6KVp0U9OFAXJoD7IkbhKPTlIjTpzAQB3AN0EUqURALBmx_f-ZoaXALnrqUQtBim_EeSOO3hBykhTSgGdWoaq0CwUQhDADvxZmUhig805b_x3y-kZd3IrLuZzvlPrySfulqQfNw2LQ1Pc-t3K5KKM-TyyaXp8JhZIrSbS0VfSCvJQcjGwnUPeLcAqW6ct6sFh69dL59u-8FPxn5CZ15QZAllIswsfABhXDAis7rskr-P-Ldv6dPbnjjkZvyZuOR9LhdrzvyIFr3pPNbDiZjs857RLQV9S3blftwtGisRQ_09MlRrNAvv0Z4H_U1-mjuIGDKyG9Gg-HscwUrVd0sUEyamndUOgSk7Bpr3FAf16ezv4w_usDuR39np1dhF1dhbCUCV-HFkmAUxBJZEmikHJZeBhmMtwGZTo2FVdaFoy7uIhLkRmkZUi8nLRGC8E_ksOmbdxnQlXJrFJehd8JgB2iHyGBgcGR5VargJz0U5ovt_IZOYQdCELuQcg9CAE5xel-vgU1r_2J9vEu75DHjTcXVxoYheSCmTTTFTQ2WkOPhdEyIMc9WDm8IzijRePazSpPsDClxkgyIJ-24D131YMfkHQP1r2x7F8Bs_Q63J0Zfvnvlj_Iq-n5KJ-Mb66OyGugYhIzURL9lRyuHzfuG9CdtfnuDfsJW9j5qw |
| 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=TALPID3+controls+centrosome+and+cell+polarity+and+the+human+ortholog+KIAA0586+is+mutated+in+Joubert+syndrome+%28JBTS23%29&rft.jtitle=eLife&rft.au=Stephen%2C+Louise+A&rft.au=Tawamie%2C+Hasan&rft.au=Davis%2C+Gemma+M&rft.au=Tebbe%2C+Lars&rft.date=2015-09-19&rft.eissn=2050-084X&rft.volume=4&rft_id=info:doi/10.7554%2FeLife.08077&rft.externalDBID=NO_FULL_TEXT |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2050-084X&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2050-084X&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2050-084X&client=summon |