Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 (θ=0.0) fo...

Full description

Saved in:

Bibliographic Details
Published in	American journal of human genetics Vol. 78; no. 3; pp. 510 - 519
Main Authors	Betz, Regina C., Planko, Laura, Eigelshoven, Sibylle, Hanneken, Sandra, Pasternack, Sandra M., Büssow, Heinrich, Van Den Bogaert, Kris, Wenzel, Joerg, Braun-Falco, Markus, Rütten, Arno, Rogers, Michael A., Ruzicka, Thomas, Nöthen, Markus M., Magin, Thomas M., Kruse, Roland
Format	Journal Article
Language	English
Published	Chicago, IL Elsevier Inc 01.03.2006 University of Chicago Press Cell Press The American Society of Human Genetics
Subjects	Base Sequence Biological and medical sciences Biological Transport Cell Adhesion - genetics Chromosomes, Human, Pair 12 - genetics Deoxyribonucleic acid Dermatology DNA Epidermolysis Bullosa Simplex - genetics Epidermolysis Bullosa Simplex - pathology Female General aspects. Genetic counseling Genes Genetics Haploidy Humans Keratin-5 Keratins - analysis Keratins - genetics Male Medical genetics Medical sciences Melanosomes - metabolism Molecular Sequence Data Mutation Mutation, Missense Organelles - metabolism Pedigree Pigmentary diseases of the skin Skin - chemistry Skin - pathology Skin diseases Human Dowling Degos disease Loss function Keratin Skin disease Gene Genetics Mutation
Online Access	Get full text

Cover

Loading…

Abstract	Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 (θ=0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene ( KRT5) in all affected family members and in six unrelated patients with DDD. These represent the first identified mutations that lead to haploinsufficiency in a keratin gene. The identification of loss-of-function mutations, along with the results from additional functional studies, suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage.
AbstractList	Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 (θ=0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene ( KRT5) in all affected family members and in six unrelated patients with DDD. These represent the first identified mutations that lead to haploinsufficiency in a keratin gene. The identification of loss-of-function mutations, along with the results from additional functional studies, suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage. Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 ( θ=0.0 ) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene ( KRT5 ) in all affected family members and in six unrelated patients with DDD. These represent the first identified mutations that lead to haploinsufficiency in a keratin gene. The identification of loss-of-function mutations, along with the results from additional functional studies, suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage. Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 (θ = 0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD. These represent the first identified mutations that lead to haploinsufficiency in a keratin gene. The identification of loss-of-function mutations, along with the results from additional functional studies, suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage. [PUBLICATION ABSTRACT] Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures. We performed a genomewide linkage analysis of two German families and mapped DDD to chromosome 12q, with a total LOD score of 4.42 ( theta =0.0) for marker D12S368. This region includes the keratin gene cluster, which we screened for mutations. We identified loss-of-function mutations in the keratin 5 gene (KRT5) in all affected family members and in six unrelated patients with DDD. These represent the first identified mutations that lead to haploinsufficiency in a keratin gene. The identification of loss-of-function mutations, along with the results from additional functional studies, suggest a crucial role for keratins in the organization of cell adhesion, melanosome uptake, organelle transport, and nuclear anchorage.
Author	Betz, Regina C. Kruse, Roland Büssow, Heinrich Eigelshoven, Sibylle Magin, Thomas M. Planko, Laura Wenzel, Joerg Braun-Falco, Markus Rütten, Arno Hanneken, Sandra Van Den Bogaert, Kris Rogers, Michael A. Ruzicka, Thomas Pasternack, Sandra M. Nöthen, Markus M.
AuthorAffiliation	Institutes of 1 Human Genetics, 2 Physiological Chemistry, and 3 Anatomy and Departments of 4 Genomics, Life and Brain Center, and 5 Dermatology, University of Bonn, Bonn; 6 Department of Dermatology, University of Düsseldorf, Düsseldorf; 7 Department of Medical Genetics, University of Antwerp, Antwerp; 8 Department of Dermatology, University of Freiburg, Freiburg, Germany; 9 Laboratory of Dermatohistopathology, Friedrichshafen, Germany; and 10 Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg
AuthorAffiliation_xml	– name: Institutes of 1 Human Genetics, 2 Physiological Chemistry, and 3 Anatomy and Departments of 4 Genomics, Life and Brain Center, and 5 Dermatology, University of Bonn, Bonn; 6 Department of Dermatology, University of Düsseldorf, Düsseldorf; 7 Department of Medical Genetics, University of Antwerp, Antwerp; 8 Department of Dermatology, University of Freiburg, Freiburg, Germany; 9 Laboratory of Dermatohistopathology, Friedrichshafen, Germany; and 10 Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg
Author_xml	– sequence: 1 givenname: Regina C. surname: Betz fullname: Betz, Regina C. email: regina.betz@uni-bonn.de organization: Institute of Human Genetics, Life and Brain Center, Bonn – sequence: 2 givenname: Laura surname: Planko fullname: Planko, Laura organization: Institute of Physiological Chemistry, Life and Brain Center, Bonn – sequence: 3 givenname: Sibylle surname: Eigelshoven fullname: Eigelshoven, Sibylle organization: Department of Dermatology, University of Düsseldorf, Düsseldorf – sequence: 4 givenname: Sandra surname: Hanneken fullname: Hanneken, Sandra organization: Department of Dermatology, University of Düsseldorf, Düsseldorf – sequence: 5 givenname: Sandra M. surname: Pasternack fullname: Pasternack, Sandra M. organization: Institute of Human Genetics, Life and Brain Center, Bonn – sequence: 6 givenname: Heinrich surname: Büssow fullname: Büssow, Heinrich organization: Institute of Anatomy, Life and Brain Center, Bonn – sequence: 7 givenname: Kris surname: Van Den Bogaert fullname: Van Den Bogaert, Kris organization: Department of Medical Genetics, University of Antwerp, Antwerp – sequence: 8 givenname: Joerg surname: Wenzel fullname: Wenzel, Joerg organization: Department of Dermatology, University of Bonn, Bonn – sequence: 9 givenname: Markus surname: Braun-Falco fullname: Braun-Falco, Markus organization: Department of Dermatology, University of Freiburg, Freiburg, Germany – sequence: 10 givenname: Arno surname: Rütten fullname: Rütten, Arno organization: Laboratory of Dermatohistopathology, Friedrichshafen, Germany – sequence: 11 givenname: Michael A. surname: Rogers fullname: Rogers, Michael A. organization: Section of Normal and Neoplastic Epidermal Differentiation, German Cancer Research Center, Heidelberg – sequence: 12 givenname: Thomas surname: Ruzicka fullname: Ruzicka, Thomas organization: Department of Dermatology, University of Düsseldorf, Düsseldorf – sequence: 13 givenname: Markus M. surname: Nöthen fullname: Nöthen, Markus M. organization: Department of Genomics, Life and Brain Center, Bonn – sequence: 14 givenname: Thomas M. surname: Magin fullname: Magin, Thomas M. organization: Institute of Physiological Chemistry, Life and Brain Center, Bonn – sequence: 15 givenname: Roland surname: Kruse fullname: Kruse, Roland organization: Department of Dermatology, University of Düsseldorf, Düsseldorf
BackLink	http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17528520$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/16465624$$D View this record in MEDLINE/PubMed
BookMark	eNqFkU1vEzEQhi1URNMCPwFZSPS2MLbXXxekqmkLIsCld8v1zqauNnaxd4v492yUiEAvnDyyHz0znveEHKWckJDXDN4zMOqDBDASnpEFk0I3SoE8IgsA4I3lVh-Tk1rvARgzIF6QY6ZaJRVvF-TbKtfa5L65mlIYY0706zT6bVFpTHS8Q_oFy3yRqKTXmJCu0Hd0zHSZfw4xrZslrnOly1jRV3xJnvd-qPhqf56Sm6vLm4tPzer79eeL81UTpLRjI4L2PVohQemWC6nazlqvEEFaYHjbWg3MQqs1Z9oGj6HFDjqPTCpjhDglH3fah-l2g13ANBY_uIcSN778ctlH9-9LindunR8dEwa4bWfB2V5Q8o8J6-g2sQYcBp8wT9UprYQx1v4XZJoLULA1vn0C3ueppHkJjjMrpZFWHmyhzGsv2P8ZmYHb5uh2Oc7gm78_eMD2wc3Auz3ga_BDX3wKsR44LbmRfCuCHYdzGo8Ri6shYgrYxYJhdF2OT3v_Brdhs-M
CODEN	AJHGAG
CitedBy_id	crossref_primary_10_1016_j_jid_2017_05_016 crossref_primary_10_1146_annurev_cellbio_100617_062534 crossref_primary_10_1111_jdv_14464 crossref_primary_10_4103_ijd_IJD_125_20 crossref_primary_10_1111_exd_14761 crossref_primary_10_1111_j_1525_1470_2012_01748_x crossref_primary_10_1038_jid_2011_20 crossref_primary_10_1016_j_ajhg_2013_04_022 crossref_primary_10_1111_ddg_15111_g crossref_primary_10_1016_j_jdcr_2019_03_025 crossref_primary_10_1016_j_yexcr_2007_03_029 crossref_primary_10_1111_j_1365_2230_2008_02950_x crossref_primary_10_1111_bjd_15575 crossref_primary_10_1111_j_1610_0387_2007_06451_x crossref_primary_10_1111_exd_14919 crossref_primary_10_1007_s00105_011_2222_x crossref_primary_10_3390_dermatopathology11010008 crossref_primary_10_1016_j_jid_2017_05_021 crossref_primary_10_1097_DAD_0000000000001699 crossref_primary_10_1016_j_ad_2009_05_005 crossref_primary_10_1038_sj_jid_5700523 crossref_primary_10_1186_s12967_024_05113_x crossref_primary_10_7554_eLife_53165 crossref_primary_10_1016_j_annder_2013_08_005 crossref_primary_10_1016_j_det_2007_04_004 crossref_primary_10_1039_C6RA15817J crossref_primary_10_1097_DAD_0000000000001467 crossref_primary_10_1242_jcs_021394 crossref_primary_10_1111_bjd_19543 crossref_primary_10_1016_j_ceb_2006_12_007 crossref_primary_10_3390_biomedicines10082039 crossref_primary_10_1172_JCI90667 crossref_primary_10_1038_jid_2014_406 crossref_primary_10_1172_JCI38177 crossref_primary_10_1016_j_jaad_2006_10_987 crossref_primary_10_1016_j_jid_2017_09_050 crossref_primary_10_1007_s15011_022_5602_x crossref_primary_10_1016_j_det_2009_10_003 crossref_primary_10_4103_ijd_IJD_260_18 crossref_primary_10_4103_ijd_IJD_392_18 crossref_primary_10_1111_j_1600_0560_2008_00995_x crossref_primary_10_1111_vde_12956 crossref_primary_10_1111_ajd_13316 crossref_primary_10_1097_DAD_0000000000000905 crossref_primary_10_1016_j_mam_2020_100938 crossref_primary_10_3892_etm_2016_3717 crossref_primary_10_4103_ijdvl_IJDVL_268_17 crossref_primary_10_1093_ced_llad356 crossref_primary_10_1016_j_dsi_2017_09_006 crossref_primary_10_1016_j_jaad_2007_02_023 crossref_primary_10_1111_pcmr_12844 crossref_primary_10_1007_s00105_010_1936_5 crossref_primary_10_1038_jid_2011_450 crossref_primary_10_1111_bjd_16000 crossref_primary_10_1111_j_1468_3083_2010_03598_x crossref_primary_10_1016_j_ejcb_2009_10_016 crossref_primary_10_1111_bjd_13019 crossref_primary_10_18231_j_ijced_2022_055 crossref_primary_10_1002_jcp_26898 crossref_primary_10_1038_sj_jid_5701065 crossref_primary_10_1002_biof_1975 crossref_primary_10_1111_jdv_18510 crossref_primary_10_1111_j_1365_2133_2010_09741_x crossref_primary_10_1016_j_jid_2018_10_030 crossref_primary_10_1038_sj_jid_5700426 crossref_primary_10_1016_j_jaad_2007_12_008 crossref_primary_10_1101_gad_1552107 crossref_primary_10_1111_jdv_14958 crossref_primary_10_1111_cge_12728 crossref_primary_10_1097_DAD_0b013e3181c80cf9 crossref_primary_10_1242_jcs_099655 crossref_primary_10_1111_1346_8138_13308 crossref_primary_10_1007_s00439_010_0938_9 crossref_primary_10_1111_j_1365_2133_2006_07592_x crossref_primary_10_5812_jssc_62349 crossref_primary_10_1038_s41586_020_2853_0 crossref_primary_10_1086_507792 crossref_primary_10_1111_bjd_14914 crossref_primary_10_1111_ced_13982 crossref_primary_10_1111_bjd_13702 crossref_primary_10_3390_ijms21124214 crossref_primary_10_1093_hmg_ddr379 crossref_primary_10_1111_cup_13520 crossref_primary_10_1111_j_1468_3083_2007_02415_x crossref_primary_10_1111_jdv_14426 crossref_primary_10_1007_s00105_009_1917_8 crossref_primary_10_1016_j_ejcb_2007_02_004 crossref_primary_10_1007_s00439_009_0646_5 crossref_primary_10_23736_S0392_0488_17_05572_9 crossref_primary_10_1016_j_piel_2021_09_005 crossref_primary_10_1097_DAD_0000000000002103 crossref_primary_10_36106_ijsr_0703684 crossref_primary_10_1111_ijd_15486 crossref_primary_10_1111_jdv_13323 crossref_primary_10_1111_bjd_16906 crossref_primary_10_1016_j_ad_2014_09_010 crossref_primary_10_1083_jcb_200906094 crossref_primary_10_1212_NXG_0000000000000075 crossref_primary_10_3390_genes14061300 crossref_primary_10_1016_j_annder_2016_02_023 crossref_primary_10_1093_hmg_ddn440 crossref_primary_10_5021_ad_2013_25_3_360 crossref_primary_10_1111_j_1440_0960_2011_00736_x crossref_primary_10_1002_ajmg_a_61362 crossref_primary_10_1111_bjd_14694 crossref_primary_10_1111_1346_8138_13769 crossref_primary_10_1111_j_1468_3083_2011_04115_x crossref_primary_10_1111_bjd_14178 crossref_primary_10_1111_jdv_12367 crossref_primary_10_23736_S2784_8671_19_06386_7 crossref_primary_10_1111_ced_12790 crossref_primary_10_14260_jemds_2015_428 crossref_primary_10_1016_j_yexcr_2007_03_005 crossref_primary_10_1016_j_ajhg_2013_12_003 crossref_primary_10_1590_S0365_05962011000500016 crossref_primary_10_3390_pharmaceutics13122029 crossref_primary_10_1111_j_1365_2230_2010_03913_x crossref_primary_10_15406_jdc_2018_02_00053 crossref_primary_10_1016_j_yexcr_2008_01_035 crossref_primary_10_3390_genes15050633 crossref_primary_10_1016_j_annder_2011_10_403 crossref_primary_10_1016_j_dsi_2013_01_003 crossref_primary_10_1097_JD9_0000000000000211 crossref_primary_10_1111_j_1365_4632_2009_03846_x crossref_primary_10_1016_j_adengl_2016_09_004 crossref_primary_10_1111_j_1365_2133_2008_08938_x crossref_primary_10_1155_2011_605841 crossref_primary_10_1016_j_semcdb_2016_02_013 crossref_primary_10_1111_ced_12463 crossref_primary_10_1111_ijd_15385 crossref_primary_10_1002_humu_20981 crossref_primary_10_1016_S0151_9638_07_91518_5 crossref_primary_10_5021_ad_2011_23_2_205 crossref_primary_10_1016_j_ad_2015_07_023 crossref_primary_10_1111_1346_8138_14788 crossref_primary_10_4103_idoj_IDOJ_218_20 crossref_primary_10_1038_sj_jid_5700296 crossref_primary_10_1097_JD9_0000000000000050 crossref_primary_10_1111_bjd_13616 crossref_primary_10_1016_j_adengl_2015_03_015 crossref_primary_10_1016_j_jaad_2006_12_023 crossref_primary_10_1016_j_jaad_2011_07_038 crossref_primary_10_1111_ijd_13358 crossref_primary_10_1016_S1578_2190_10_70604_1 crossref_primary_10_3892_mmr_2016_5760 crossref_primary_10_1371_journal_pone_0104496 crossref_primary_10_1016_j_ajpath_2010_12_055 crossref_primary_10_1074_jbc_M114_553867 crossref_primary_10_1111_j_1600_0560_2010_01557_x crossref_primary_10_1016_j_jdermsci_2019_01_004 crossref_primary_10_1016_j_piel_2014_08_003 crossref_primary_10_1073_pnas_1310493110 crossref_primary_10_1016_j_jid_2023_04_036 crossref_primary_10_1111_j_1365_2133_2010_10146_x crossref_primary_10_1016_j_pepo_2012_05_010 crossref_primary_10_3390_ijms222212446 crossref_primary_10_1016_j_jdcr_2020_02_016 crossref_primary_10_1038_jid_2012_72 crossref_primary_10_1038_jid_2015_184 crossref_primary_10_1093_hmg_ddt207 crossref_primary_10_1111_j_1365_2133_2006_07703_x crossref_primary_10_1111_j_1600_0625_2012_01534_x crossref_primary_10_1111_bjd_12813 crossref_primary_10_1016_j_abb_2010_12_019 crossref_primary_10_1111_bjd_15805
Cites_doi	10.1016/j.yexcr.2004.08.018 10.1146/annurev.biochem.73.011303.073823 10.1056/NEJMra040319 10.1078/0171-9335-00354 10.1111/j.1365-2133.2003.05645.x 10.1242/jcs.115.13.2639 10.1046/j.1523-1747.2003.12424.x 10.1073/pnas.81.11.3443 10.1038/35096009 10.1001/archderm.1978.01640200004002 10.1080/00015550152384371 10.1016/j.neuron.2005.01.023 10.1242/jcs.01701 10.1073/pnas.93.17.9079 10.1055/s-2003-40570 10.1038/nrm1438 10.1083/jcb.200205062 10.1038/ncb0804-699 10.1111/j.1365-2133.1983.tb04602.x 10.1046/j.1524-4725.2002.02014.x 10.1038/nature01458 10.1111/j.1365-2230.1984.tb00838.x 10.1046/j.1523-1747.2003.12481.x 10.1128/MCB.25.3.969-978.2005 10.1242/jcs.114.14.2569 10.1101/gad.8.21.2563 10.1046/j.1523-1747.1999.00702.x 10.1091/mbc.E04-03-0272 10.1091/mbc.12.6.1557 10.1038/nrm1550 10.1091/mbc.E03-09-0687 10.1091/mbc.E02-08-0548 10.1067/mjd.2001.116340 10.1083/jcb.141.5.1229 10.1038/nrm1356
ContentType	Journal Article
Copyright	2006 The American Society of Human Genetics 2006 INIST-CNRS Copyright University of Chicago, acting through its Press Mar 2006 2006 by The American Society of Human Genetics. All rights reserved. 2006
Copyright_xml	– notice: 2006 The American Society of Human Genetics – notice: 2006 INIST-CNRS – notice: Copyright University of Chicago, acting through its Press Mar 2006 – notice: 2006 by The American Society of Human Genetics. All rights reserved. 2006
DBID	6I. AAFTH IQODW CGR CUY CVF ECM EIF NPM AAYXX CITATION 7QP 7TK 7TM 7U7 8FD C1K FR3 K9. NAPCQ P64 RC3 7X8 5PM
DOI	10.1086/500850
DatabaseName	ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access Pascal-Francis Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Nucleic Acids Abstracts Toxicology Abstracts Technology Research Database Environmental Sciences and Pollution Management Engineering Research Database ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles)
DatabaseTitle	MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Nursing & Allied Health Premium Genetics Abstracts Technology Research Database Toxicology Abstracts Nucleic Acids Abstracts ProQuest Health & Medical Complete (Alumni) Engineering Research Database Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Biotechnology and BioEngineering Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic
DatabaseTitleList	Nursing & Allied Health Premium MEDLINE Genetics Abstracts MEDLINE - Academic
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
DocumentTitleAlternate	KRT5 Mutations in Dowling-Degos Disease
EISSN	1537-6605
EndPage	519
ExternalDocumentID	1004390921 10_1086_500850 16465624 17528520 S0002929707623908
Genre	Research Support, Non-U.S. Gov't Journal Article
GroupedDBID	--- --K --Z -~X .55 .GJ 0R~ 123 1~5 23M 2WC 34R 3O- 4.4 41~ 457 4G. 53G 5GY 62- 6I. 6J9 7-5 85S AACTN AAEDT AAEDW AAFTH AAIAV AAIKJ AAKRW AALRI AAQXK AAUCE AAVLU AAWTL AAXJY AAXUO ABJNI ABMAC ABMWF ABOCM ABVKL ACGFO ACGFS ACGOD ACKIV ACNCT ACPRK ADBBV ADEZE ADJPV ADMUD AENEX AEXQZ AFMIJ AFRAH AFTJW AGCDD AGHFR AGKMS AHMBA AI. AITUG ALKID ALMA_UNASSIGNED_HOLDINGS AMRAJ AOIJS ASPBG AVWKF AZFZN BAWUL C1A CS3 D0L DIK E3Z EBS ECV EJD F20 F5P FA8 FCP FDB FEDTE FGOYB GX1 HVGLF HYE HZ~ IH2 IHE IXB JIG KQ8 L7B M41 MVM NCXOZ NEJ O-L O9- OHT OK1 OZT P2P PQQKQ R2- RCE RIG RNS ROL RPM RPZ SES SJN SSZ TN5 TR2 TWZ UHB UKR UNMZH UPT VH1 VQA WH7 WOQ WQ6 X7M XOL ZA5 ZCA ZCG ZGI ZXP 08R AAUGY ABPTK AKALU IQODW 0SF AAMRU ADVLN AKAPO AKRWK CGR CUY CVF ECM EIF NPM AAYXX ACRPL CITATION 7QP 7TK 7TM 7U7 8FD C1K FR3 K9. NAPCQ P64 RC3 7X8 5PM
ID	FETCH-LOGICAL-c559t-3c7afe935067423564d99a6ee05901eb49701904772179caec4ed0dae1568833
IEDL.DBID	RPM
ISSN	0002-9297
IngestDate	Tue Sep 17 21:26:24 EDT 2024 Thu Dec 05 23:48:29 EST 2024 Wed Dec 04 11:37:10 EST 2024 Thu Oct 10 21:59:13 EDT 2024 Fri Dec 06 03:44:44 EST 2024 Sat Nov 02 12:17:53 EDT 2024 Sun Oct 22 16:04:31 EDT 2023 Fri Feb 23 02:34:49 EST 2024
IsDoiOpenAccess	true
IsOpenAccess	true
IsPeerReviewed	true
IsScholarly	true
Issue	3
Keywords	Human Dowling Degos disease Loss function Keratin Skin disease Gene Genetics Mutation
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
LinkModel	DirectLink
MergedId	FETCHMERGED-LOGICAL-c559t-3c7afe935067423564d99a6ee05901eb49701904772179caec4ed0dae1568833
Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 These two authors contributed equally to this work.
OpenAccessLink	https://www.sciencedirect.com/science/article/pii/S0002929707623908
PMID	16465624
PQID	219558595
PQPubID	24320
PageCount	10
ParticipantIDs	pubmedcentral_primary_oai_pubmedcentral_nih_gov_1380294 proquest_miscellaneous_67638899 proquest_miscellaneous_17230604 proquest_journals_219558595 crossref_primary_10_1086_500850 pubmed_primary_16465624 pascalfrancis_primary_17528520 elsevier_sciencedirect_doi_10_1086_500850
PublicationCentury	2000
PublicationDate	2006-03-01
PublicationDateYYYYMMDD	2006-03-01
PublicationDate_xml	– month: 03 year: 2006 text: 2006-03-01 day: 01
PublicationDecade	2000
PublicationPlace	Chicago, IL
PublicationPlace_xml	– name: Chicago, IL – name: United States – name: Chicago
PublicationTitle	American journal of human genetics
PublicationTitleAlternate	Am J Hum Genet
PublicationYear	2006
Publisher	Elsevier Inc University of Chicago Press Cell Press The American Society of Human Genetics
Publisher_xml	– name: Elsevier Inc – name: University of Chicago Press – name: Cell Press – name: The American Society of Human Genetics
References	Braun-Falco, Volgger, Borelli, Ring, Disch (bib6) 2001; 45 Milde, Süss, Megahed, Goerz (bib29) 1994; 69 Reichelt, Bussow, Grund, Magin (bib34) 2001; 12 Wenzel, Tappe, Gerdsen, Uerlich, Philipp-Dormston, Bieber, Petrow (bib42) 2002; 28 Chang, Goldman (bib8) 2004; 5 Hardman, Liu, Avilion, Merritt, Brennan, Garrod, Byrne (bib18) 2005; 25 Rugg, McLean, Lane, Pitera, McMillan, Dopping-Hepenstal, Navsaria, Leigh, Eady (bib37) 1994; 8 Wilson Jones, Grice (bib44) 1978; 114 Maquat (bib26) 2005; 118 Braun-Falco, Ring (bib5) 2003; 149 Herrmann, Aebi (bib19) 2004; 73 Reichelt, Doering, Schnetz, Fartasch, Sandhoff, Magin (bib35) 1999; 113 Crovato, Nazzari, Rebora (bib10) 1983; 108 Dowling, Freudenthal (bib12) 1938; 50 Hesse, Magin, Weber (bib20) 2001; 114 Getsios, Huen, Green (bib14) 2004; 5 Perlson, Hanz, Ben-Yaakov, Segal-Ruder, Seger, Fainzilber (bib32) 2005; 45 Coulombe, Wong (bib9) 2004; 6 Werner, Windoffer, Strnad, Grund, Leube, Magin (bib43) 2004; 15 Lathrop, Lalouel, Julier, Ott (bib24) 1984; 81 Rao, Engle, Mohan, Yuan, Qiu, Cataldo, Hassinger, Jacobsen, Lee, Andreadis, Julien, Bridgman, Nixon (bib33) 2002; 159 Griffiths (bib15) 1984; 9 Gu, Kim, Ichiki, Park, Nagai, Kitajima (bib17) 2003; 121 Fontao, Favre, Riou, Geerts, Jaunin, Saurat, Green, Sonnenberg, Borradori (bib13) 2003; 14 Omary, Coulombe, McLean (bib31) 2004; 351 Degos, Ossipowski (bib11) 1954; 81 Jafari, Tronnier, Vakilzadeh (bib22) 2003; 29 Jamora, DasGupta, Kocieniewski, Fuchs (bib23) 2003; 422 Marks, Seabra (bib27) 2001; 2 Reichelt, Magin (bib36) 2002; 115 Styers, Salazar, Love, Peden, Kowalczyk, Faundez (bib40) 2004; 15 Smith, Fuchs (bib39) 1998; 141 Uttam, Hutton, Coulombe, Anton-Lamprecht, Yu, Gedde-Dahl, Fine, Fuchs (bib41) 1996; 93 Biltz, Kiessling (bib4) 1988; 63 Hesse, Zimek, Weber, Magin (bib21) 2004; 83 Byers, Maheshwary, Amodeo, Dykstra (bib7) 2003; 121 O'Goshi, Terui, Tagami (bib30) 2001; 81 Magin, Reichelt, Hatzfeld (bib25) 2004; 301 Milde, Goerz, Plewig (bib28) 1992; 43 Rütten, Strauß (bib38) 1995; 21 Gruenbaum, Margalit, Goldman, Shumaker, Wilson (bib16) 2005; 6 Chang (10.1086/500850_bib8) 2004; 5 Coulombe (10.1086/500850_bib9) 2004; 6 Marks (10.1086/500850_bib27) 2001; 2 Byers (10.1086/500850_bib7) 2003; 121 Hesse (10.1086/500850_bib21) 2004; 83 Wilson Jones (10.1086/500850_bib44) 1978; 114 Werner (10.1086/500850_bib43) 2004; 15 Milde (10.1086/500850_bib28) 1992; 43 Smith (10.1086/500850_bib39) 1998; 141 Rütten (10.1086/500850_bib38) 1995; 21 Milde (10.1086/500850_bib29) 1994; 69 Jafari (10.1086/500850_bib22) 2003; 29 Fontao (10.1086/500850_bib13) 2003; 14 Braun-Falco (10.1086/500850_bib6) 2001; 45 Jamora (10.1086/500850_bib23) 2003; 422 Reichelt (10.1086/500850_bib35) 1999; 113 Styers (10.1086/500850_bib40) 2004; 15 Dowling (10.1086/500850_bib12) 1938; 50 Reichelt (10.1086/500850_bib34) 2001; 12 Omary (10.1086/500850_bib31) 2004; 351 O'Goshi (10.1086/500850_bib30) 2001; 81 Hardman (10.1086/500850_bib18) 2005; 25 Gu (10.1086/500850_bib17) 2003; 121 Perlson (10.1086/500850_bib32) 2005; 45 Griffiths (10.1086/500850_bib15) 1984; 9 Maquat (10.1086/500850_bib26) 2005; 118 Rugg (10.1086/500850_bib37) 1994; 8 Crovato (10.1086/500850_bib10) 1983; 108 Magin (10.1086/500850_bib25) 2004; 301 Lathrop (10.1086/500850_bib24) 1984; 81 Braun-Falco (10.1086/500850_bib5) 2003; 149 Biltz (10.1086/500850_bib4) 1988; 63 Hesse (10.1086/500850_bib20) 2001; 114 Wenzel (10.1086/500850_bib42) 2002; 28 Gruenbaum (10.1086/500850_bib16) 2005; 6 Degos (10.1086/500850_bib11) 1954; 81 Rao (10.1086/500850_bib33) 2002; 159 Reichelt (10.1086/500850_bib36) 2002; 115 Uttam (10.1086/500850_bib41) 1996; 93 Getsios (10.1086/500850_bib14) 2004; 5 Herrmann (10.1086/500850_bib19) 2004; 73
References_xml	– volume: 14 start-page: 1978 year: 2003 end-page: 1992 ident: bib13 article-title: Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus publication-title: Mol Biol Cell contributor: fullname: Borradori – volume: 12 start-page: 1557 year: 2001 end-page: 1568 ident: bib34 article-title: Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice publication-title: Mol Biol Cell contributor: fullname: Magin – volume: 21 start-page: 255 year: 1995 end-page: 257 ident: bib38 article-title: Morbus Galli-Galli: ein weiterer Fallbericht publication-title: Akt Dermatol contributor: fullname: Strauß – volume: 114 start-page: 2569 year: 2001 end-page: 2575 ident: bib20 article-title: Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18 publication-title: J Cell Sci contributor: fullname: Weber – volume: 45 start-page: 760 year: 2001 end-page: 763 ident: bib6 article-title: Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? publication-title: J Am Acad Dermatol contributor: fullname: Disch – volume: 15 start-page: 990 year: 2004 end-page: 1002 ident: bib43 article-title: Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits publication-title: Mol Biol Cell contributor: fullname: Magin – volume: 69 start-page: 282 year: 1994 end-page: 283 ident: bib29 article-title: Morbus Dowling-Degos-Kitamura publication-title: Z Hautkr contributor: fullname: Goerz – volume: 83 start-page: 19 year: 2004 end-page: 26 ident: bib21 article-title: Comprehensive analysis of keratin gene clusters in humans and rodents publication-title: Eur J Cell Biol contributor: fullname: Magin – volume: 301 start-page: 91 year: 2004 end-page: 102 ident: bib25 article-title: Emerging functions: diseases and animal models reshape our view of the cytoskeleton publication-title: Exp Cell Res contributor: fullname: Hatzfeld – volume: 50 start-page: 467 year: 1938 end-page: 471 ident: bib12 article-title: Acanthosis nigricans publication-title: Br J Dermatol contributor: fullname: Freudenthal – volume: 6 start-page: 699 year: 2004 end-page: 706 ident: bib9 article-title: Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds publication-title: Nat Cell Biol contributor: fullname: Wong – volume: 6 start-page: 21 year: 2005 end-page: 31 ident: bib16 article-title: The nuclear lamina comes of age publication-title: Nat Rev Mol Cell Biol contributor: fullname: Wilson – volume: 8 start-page: 2563 year: 1994 end-page: 2573 ident: bib37 article-title: A functional “knockout” of human keratin 14 publication-title: Genes Dev contributor: fullname: Eady – volume: 81 start-page: 148 year: 2001 ident: bib30 article-title: Dowling-Degos disease affecting the vulva publication-title: Acta Derm Venereol contributor: fullname: Tagami – volume: 159 start-page: 279 year: 2002 end-page: 290 ident: bib33 article-title: Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density publication-title: J Cell Biol contributor: fullname: Nixon – volume: 115 start-page: 2639 year: 2002 end-page: 2650 ident: bib36 article-title: Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice publication-title: J Cell Sci contributor: fullname: Magin – volume: 149 start-page: 1293 year: 2003 end-page: 1296 ident: bib5 article-title: Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome publication-title: Br J Dermatol contributor: fullname: Ring – volume: 114 start-page: 1150 year: 1978 end-page: 1157 ident: bib44 article-title: Reticulate pigmented anomaly of the flexures: Dowling Degos disease, a new genodermatosis publication-title: Arch Dermatol contributor: fullname: Grice – volume: 25 start-page: 969 year: 2005 end-page: 978 ident: bib18 article-title: Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation publication-title: Mol Cell Biol contributor: fullname: Byrne – volume: 15 start-page: 5369 year: 2004 end-page: 5382 ident: bib40 article-title: The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton publication-title: Mol Biol Cell contributor: fullname: Faundez – volume: 9 start-page: 439 year: 1984 end-page: 450 ident: bib15 article-title: Reticulate pigmentary disorders: a review publication-title: Clin Exp Dermatol contributor: fullname: Griffiths – volume: 93 start-page: 9079 year: 1996 end-page: 9084 ident: bib41 article-title: The genetic basis of epidermolysis bullosa simplex with mottled pigmentation publication-title: Proc Natl Acad Sci USA contributor: fullname: Fuchs – volume: 118 start-page: 1773 year: 2005 end-page: 1776 ident: bib26 article-title: Nonsense-mediated mRNA decay in mammals publication-title: J Cell Sci contributor: fullname: Maquat – volume: 5 start-page: 601 year: 2004 end-page: 613 ident: bib8 article-title: Intermediate filaments mediate cytoskeletal crosstalk publication-title: Nat Rev Mol Cell Biol contributor: fullname: Goldman – volume: 81 start-page: 3443 year: 1984 end-page: 3446 ident: bib24 article-title: Strategies for multilocus linkage analysis in humans publication-title: Proc Natl Acad Sci USA contributor: fullname: Ott – volume: 81 start-page: 147 year: 1954 end-page: 151 ident: bib11 article-title: Dermatose pigmentaire réticulée des plis publication-title: Ann Dermatol Syphiligr contributor: fullname: Ossipowski – volume: 108 start-page: 473 year: 1983 end-page: 476 ident: bib10 article-title: Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition publication-title: Br J Dermatol contributor: fullname: Rebora – volume: 121 start-page: 482 year: 2003 end-page: 485 ident: bib17 article-title: A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema publication-title: J Invest Dermatol contributor: fullname: Kitajima – volume: 29 start-page: 240 year: 2003 end-page: 242 ident: bib22 article-title: Morbus Dowling-Degos in genitoperianal localisation in a mother and daughter publication-title: Akt Dermatol contributor: fullname: Vakilzadeh – volume: 5 start-page: 271 year: 2004 end-page: 281 ident: bib14 article-title: Working out the strength and flexibility of desmosomes publication-title: Nat Rev Mol Cell Biol contributor: fullname: Green – volume: 73 start-page: 749 year: 2004 end-page: 789 ident: bib19 article-title: Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds publication-title: Annu Rev Biochem contributor: fullname: Aebi – volume: 2 start-page: 738 year: 2001 end-page: 748 ident: bib27 article-title: The melanosome: membrane dynamics in black and white publication-title: Nat Rev Mol Cell Biol contributor: fullname: Seabra – volume: 43 start-page: 369 year: 1992 end-page: 372 ident: bib28 article-title: Dowling-Degos disease with exclusively genital manifestations publication-title: Hautarzt contributor: fullname: Plewig – volume: 45 start-page: 715 year: 2005 end-page: 726 ident: bib32 article-title: Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve publication-title: Neuron contributor: fullname: Fainzilber – volume: 422 start-page: 317 year: 2003 end-page: 322 ident: bib23 article-title: Links between signal transduction, transcription and adhesion in epithelial bud development publication-title: Nature contributor: fullname: Fuchs – volume: 141 start-page: 1229 year: 1998 end-page: 1241 ident: bib39 article-title: Defining the interactions between intermediate filaments and desmosomes publication-title: J Cell Biol contributor: fullname: Fuchs – volume: 63 start-page: 642 year: 1988 end-page: 644 ident: bib4 article-title: Dowling-Degos disease: an autosomal dominant genetic dermatosis publication-title: Z Hautkr contributor: fullname: Kiessling – volume: 121 start-page: 813 year: 2003 end-page: 820 ident: bib7 article-title: Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes publication-title: J Invest Dermatol contributor: fullname: Dykstra – volume: 28 start-page: 748 year: 2002 end-page: 750 ident: bib42 article-title: Successful treatment of Dowling-Degos disease with Er:YAG laser publication-title: Dermatol Surg contributor: fullname: Petrow – volume: 113 start-page: 329 year: 1999 end-page: 334 ident: bib35 article-title: Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis publication-title: J Invest Dermatol contributor: fullname: Magin – volume: 351 start-page: 2087 year: 2004 end-page: 2100 ident: bib31 article-title: Intermediate filament proteins and their associated diseases publication-title: N Engl J Med contributor: fullname: McLean – volume: 301 start-page: 91 year: 2004 ident: 10.1086/500850_bib25 article-title: Emerging functions: diseases and animal models reshape our view of the cytoskeleton publication-title: Exp Cell Res doi: 10.1016/j.yexcr.2004.08.018 contributor: fullname: Magin – volume: 73 start-page: 749 year: 2004 ident: 10.1086/500850_bib19 article-title: Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds publication-title: Annu Rev Biochem doi: 10.1146/annurev.biochem.73.011303.073823 contributor: fullname: Herrmann – volume: 351 start-page: 2087 year: 2004 ident: 10.1086/500850_bib31 article-title: Intermediate filament proteins and their associated diseases publication-title: N Engl J Med doi: 10.1056/NEJMra040319 contributor: fullname: Omary – volume: 81 start-page: 147 year: 1954 ident: 10.1086/500850_bib11 article-title: Dermatose pigmentaire réticulée des plis publication-title: Ann Dermatol Syphiligr contributor: fullname: Degos – volume: 83 start-page: 19 year: 2004 ident: 10.1086/500850_bib21 article-title: Comprehensive analysis of keratin gene clusters in humans and rodents publication-title: Eur J Cell Biol doi: 10.1078/0171-9335-00354 contributor: fullname: Hesse – volume: 149 start-page: 1293 year: 2003 ident: 10.1086/500850_bib5 article-title: Enhanced cytoplasmic expression of desmocollin 3 in epidermal rete ridges of Dowling-Degos syndrome publication-title: Br J Dermatol doi: 10.1111/j.1365-2133.2003.05645.x contributor: fullname: Braun-Falco – volume: 69 start-page: 282 year: 1994 ident: 10.1086/500850_bib29 article-title: Morbus Dowling-Degos-Kitamura publication-title: Z Hautkr contributor: fullname: Milde – volume: 115 start-page: 2639 year: 2002 ident: 10.1086/500850_bib36 article-title: Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice publication-title: J Cell Sci doi: 10.1242/jcs.115.13.2639 contributor: fullname: Reichelt – volume: 121 start-page: 482 year: 2003 ident: 10.1086/500850_bib17 article-title: A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema publication-title: J Invest Dermatol doi: 10.1046/j.1523-1747.2003.12424.x contributor: fullname: Gu – volume: 81 start-page: 3443 year: 1984 ident: 10.1086/500850_bib24 article-title: Strategies for multilocus linkage analysis in humans publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.81.11.3443 contributor: fullname: Lathrop – volume: 21 start-page: 255 year: 1995 ident: 10.1086/500850_bib38 article-title: Morbus Galli-Galli: ein weiterer Fallbericht publication-title: Akt Dermatol contributor: fullname: Rütten – volume: 2 start-page: 738 year: 2001 ident: 10.1086/500850_bib27 article-title: The melanosome: membrane dynamics in black and white publication-title: Nat Rev Mol Cell Biol doi: 10.1038/35096009 contributor: fullname: Marks – volume: 43 start-page: 369 year: 1992 ident: 10.1086/500850_bib28 article-title: Dowling-Degos disease with exclusively genital manifestations publication-title: Hautarzt contributor: fullname: Milde – volume: 114 start-page: 1150 year: 1978 ident: 10.1086/500850_bib44 article-title: Reticulate pigmented anomaly of the flexures: Dowling Degos disease, a new genodermatosis publication-title: Arch Dermatol doi: 10.1001/archderm.1978.01640200004002 contributor: fullname: Wilson Jones – volume: 63 start-page: 642 year: 1988 ident: 10.1086/500850_bib4 article-title: Dowling-Degos disease: an autosomal dominant genetic dermatosis publication-title: Z Hautkr contributor: fullname: Biltz – volume: 81 start-page: 148 year: 2001 ident: 10.1086/500850_bib30 article-title: Dowling-Degos disease affecting the vulva publication-title: Acta Derm Venereol doi: 10.1080/00015550152384371 contributor: fullname: O'Goshi – volume: 45 start-page: 715 year: 2005 ident: 10.1086/500850_bib32 article-title: Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve publication-title: Neuron doi: 10.1016/j.neuron.2005.01.023 contributor: fullname: Perlson – volume: 118 start-page: 1773 year: 2005 ident: 10.1086/500850_bib26 article-title: Nonsense-mediated mRNA decay in mammals publication-title: J Cell Sci doi: 10.1242/jcs.01701 contributor: fullname: Maquat – volume: 93 start-page: 9079 year: 1996 ident: 10.1086/500850_bib41 article-title: The genetic basis of epidermolysis bullosa simplex with mottled pigmentation publication-title: Proc Natl Acad Sci USA doi: 10.1073/pnas.93.17.9079 contributor: fullname: Uttam – volume: 29 start-page: 240 year: 2003 ident: 10.1086/500850_bib22 article-title: Morbus Dowling-Degos in genitoperianal localisation in a mother and daughter publication-title: Akt Dermatol doi: 10.1055/s-2003-40570 contributor: fullname: Jafari – volume: 5 start-page: 601 year: 2004 ident: 10.1086/500850_bib8 article-title: Intermediate filaments mediate cytoskeletal crosstalk publication-title: Nat Rev Mol Cell Biol doi: 10.1038/nrm1438 contributor: fullname: Chang – volume: 159 start-page: 279 year: 2002 ident: 10.1086/500850_bib33 article-title: Myosin Va binding to neurofilaments is essential for correct myosin Va distribution and transport and neurofilament density publication-title: J Cell Biol doi: 10.1083/jcb.200205062 contributor: fullname: Rao – volume: 6 start-page: 699 year: 2004 ident: 10.1086/500850_bib9 article-title: Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds publication-title: Nat Cell Biol doi: 10.1038/ncb0804-699 contributor: fullname: Coulombe – volume: 108 start-page: 473 year: 1983 ident: 10.1086/500850_bib10 article-title: Dowling-Degos disease (reticulate pigmented anomaly of the flexures) is an autosomal dominant condition publication-title: Br J Dermatol doi: 10.1111/j.1365-2133.1983.tb04602.x contributor: fullname: Crovato – volume: 50 start-page: 467 year: 1938 ident: 10.1086/500850_bib12 article-title: Acanthosis nigricans publication-title: Br J Dermatol contributor: fullname: Dowling – volume: 28 start-page: 748 year: 2002 ident: 10.1086/500850_bib42 article-title: Successful treatment of Dowling-Degos disease with Er:YAG laser publication-title: Dermatol Surg doi: 10.1046/j.1524-4725.2002.02014.x contributor: fullname: Wenzel – volume: 422 start-page: 317 year: 2003 ident: 10.1086/500850_bib23 article-title: Links between signal transduction, transcription and adhesion in epithelial bud development publication-title: Nature doi: 10.1038/nature01458 contributor: fullname: Jamora – volume: 9 start-page: 439 year: 1984 ident: 10.1086/500850_bib15 article-title: Reticulate pigmentary disorders: a review publication-title: Clin Exp Dermatol doi: 10.1111/j.1365-2230.1984.tb00838.x contributor: fullname: Griffiths – volume: 121 start-page: 813 year: 2003 ident: 10.1086/500850_bib7 article-title: Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes publication-title: J Invest Dermatol doi: 10.1046/j.1523-1747.2003.12481.x contributor: fullname: Byers – volume: 25 start-page: 969 year: 2005 ident: 10.1086/500850_bib18 article-title: Desmosomal cadherin misexpression alters beta-catenin stability and epidermal differentiation publication-title: Mol Cell Biol doi: 10.1128/MCB.25.3.969-978.2005 contributor: fullname: Hardman – volume: 114 start-page: 2569 year: 2001 ident: 10.1086/500850_bib20 article-title: Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18 publication-title: J Cell Sci doi: 10.1242/jcs.114.14.2569 contributor: fullname: Hesse – volume: 8 start-page: 2563 year: 1994 ident: 10.1086/500850_bib37 article-title: A functional “knockout” of human keratin 14 publication-title: Genes Dev doi: 10.1101/gad.8.21.2563 contributor: fullname: Rugg – volume: 113 start-page: 329 year: 1999 ident: 10.1086/500850_bib35 article-title: Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis publication-title: J Invest Dermatol doi: 10.1046/j.1523-1747.1999.00702.x contributor: fullname: Reichelt – volume: 15 start-page: 5369 year: 2004 ident: 10.1086/500850_bib40 article-title: The endo-lysosomal sorting machinery interacts with the intermediate filament cytoskeleton publication-title: Mol Biol Cell doi: 10.1091/mbc.E04-03-0272 contributor: fullname: Styers – volume: 12 start-page: 1557 year: 2001 ident: 10.1086/500850_bib34 article-title: Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice publication-title: Mol Biol Cell doi: 10.1091/mbc.12.6.1557 contributor: fullname: Reichelt – volume: 6 start-page: 21 year: 2005 ident: 10.1086/500850_bib16 article-title: The nuclear lamina comes of age publication-title: Nat Rev Mol Cell Biol doi: 10.1038/nrm1550 contributor: fullname: Gruenbaum – volume: 15 start-page: 990 year: 2004 ident: 10.1086/500850_bib43 article-title: Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits publication-title: Mol Biol Cell doi: 10.1091/mbc.E03-09-0687 contributor: fullname: Werner – volume: 14 start-page: 1978 year: 2003 ident: 10.1086/500850_bib13 article-title: Interaction of the bullous pemphigoid antigen 1 (BP230) and desmoplakin with intermediate filaments is mediated by distinct sequences within their COOH terminus publication-title: Mol Biol Cell doi: 10.1091/mbc.E02-08-0548 contributor: fullname: Fontao – volume: 45 start-page: 760 year: 2001 ident: 10.1086/500850_bib6 article-title: Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? publication-title: J Am Acad Dermatol doi: 10.1067/mjd.2001.116340 contributor: fullname: Braun-Falco – volume: 141 start-page: 1229 year: 1998 ident: 10.1086/500850_bib39 article-title: Defining the interactions between intermediate filaments and desmosomes publication-title: J Cell Biol doi: 10.1083/jcb.141.5.1229 contributor: fullname: Smith – volume: 5 start-page: 271 year: 2004 ident: 10.1086/500850_bib14 article-title: Working out the strength and flexibility of desmosomes publication-title: Nat Rev Mol Cell Biol doi: 10.1038/nrm1356 contributor: fullname: Getsios
SSID	ssj0011803
Score	2.3645947
Snippet	Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation of the flexures....
SourceID	pubmedcentral proquest crossref pubmed pascalfrancis elsevier
SourceType	Open Access Repository Aggregation Database Index Database Publisher
StartPage	510
SubjectTerms	Base Sequence Biological and medical sciences Biological Transport Cell Adhesion - genetics Chromosomes, Human, Pair 12 - genetics Deoxyribonucleic acid Dermatology DNA Epidermolysis Bullosa Simplex - genetics Epidermolysis Bullosa Simplex - pathology Female General aspects. Genetic counseling Genes Genetics Haploidy Humans Keratin-5 Keratins - analysis Keratins - genetics Male Medical genetics Medical sciences Melanosomes - metabolism Molecular Sequence Data Mutation Mutation, Missense Organelles - metabolism Pedigree Pigmentary diseases of the skin Skin - chemistry Skin - pathology Skin diseases
SummonAdditionalLinks	– databaseName: Open Access: Elsevier Open Archive Journals dbid: ABVKL link: http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1LT8MwDI54CAkJId6M8ciBC4eINo-2OcLGhHidAHGr2jSFXdqJbkL8e-ymHYzHgVu1Jm1lJ_bnOf5MyLEIAYarKGcyt5xJ4_ss1SbCimXBDTfKz-oDsnfB5YO8elJPc6TX1sLgscrG9jubXlvr5pfTRpqno-EQa3w9Ds49hEicQ-QezZNF5DKHpb14dv54fTNNJviRJ1oUjBO-tBhSNWXbXz5pZZRUIKnctbj4DYN-P0r5xTcN1shqAyrpmfvudTJniw2y5NpMvm-Suxt4KytzNgAnhoqgtxOXga_osKAAAek1civDtaLIQ02x8SYdl7RfvmG5Ouvb57KifZfM2SL3g4v73iVr-igwA_HCmAkTJrnVQoFnAvSkAplpnQTW1oWnNpUaOdk9CUAbtqdJrJE287LEQmyHvYi3yUJRFnaXUO3pRGW5yFOlZa5FyjOZCqkBJgB0MaJDjlpBxiPHlhHXWe4oiJ2oO-SklW88o-cYTPiPsYczCvh8ZKh4pDgM6LYaiZutV8VggpVC1jb4mOld2DOYCEkKW04qmI-Blyf_HhGA2Y0gFO2QHaffz3cHyDDHYW44o_npAOTrnr1TDF9q3m5fRLBi5d4_RNAly-4_Hzz0tk8Wxq8TewAoaJweNqv8A_tEA_k priority: 102 providerName: Elsevier
Title	Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease
URI	https://dx.doi.org/10.1086/500850 https://www.ncbi.nlm.nih.gov/pubmed/16465624 https://www.proquest.com/docview/219558595 https://search.proquest.com/docview/17230604 https://search.proquest.com/docview/67638899 https://pubmed.ncbi.nlm.nih.gov/PMC1380294
Volume	78
hasFullText	1
inHoldings	1
isFullTextHit
isPrint
link	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT-MwEB7x0EorIbQsu1AexYe9cDBNYjuJj7TditKCOLCr3qLEcaASJBVphfj3jOMEKCyXvUSRbMeWx_Z8kxl_A_CLBQjDRZhRnmmPcuW6NJEqNDeWmac8Jdy0CpC99M_-8POJmKyAaO7CVEH7Kpme5Hf3J_n0toqtnN2rThMn1rm66LksdDzJO6uwiuq3MdFr14EbOqzBvKj7gzcJhURF0GZ4Qn1DE-bxz5TRxiwucYoym9viX-DzfQzlG6U0-AabNZokp3bUW7Ci8-_wxeaXfNqGyzH2SouMDlB7GQmQi4V1vZdkmhPEfmRkSJXxXRBDQE1Mxk0yL0i_eDT31Glf3xQl6Vsvzg-4Hvy-7p3ROoECVWgozClTQZxpyQSqJIRNwueplLGvdXXjVCdcGjJ2hyPCxn2pYq24Tp001mjUmSTEP2EtL3K9C0Q6MhZpxrJESJ5JlngpTxiXiA8QsyjWgqNmIqOZpcmIKvd26Ed21ltw3MxvVCt3q7QjPLs_1G0vCeD1k4HwQuFhhf1GIlG958oIz14hDF0bDualFDeL8YDEuS4WJbY3FpfDP6_h43kbog3agh0r39e-6zXTgmBJ8i8VDFH3cgmu34qwu16ve__dch--2l8_JvbtANbmDwt9iGBonrRh_bT7dzRuozkwHOFzOOm2qw3xDFRqClk
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/eLvHCXMwnV1RT9swED51RWhICLHBoHQUP-yFB9MktpP4EdFVZbTVHorEW5Q4DqtEk4q0Qvv3O8cJ0DFe9hbJdhzd2b7vcufvAL6xAGG4CDPKM-1RrlyXJlKF5sYy85SnhJtWCbJTf3TLf9yJuxaI5i5MlbSvkvlF_rC4yOe_qtzK5UL1mzyx_s_JlctCx5O8_wG2BAuk2zjpdfDADR3WoF60_sGrkkKiomgzTKG-IQrz-HvmaHcZlyikzFa3-Bf8_DuL8pVZGu7DXo0nyaX97k_Q0vln2LYVJn8fwHSMs9Iio0O0X0YHZLK2wfeSzHOC6I_cGFplfBbEUFATU3OTrAoyKJ7MTXU60PdFSQY2jnMIs-H32dWI1iUUqEJXYUWZCuJMSybQKCFwEj5PpYx9ras7pzrh0tCxOxwxNu5MFWvFdeqksUa3zpQh_gLtvMj1MRDpyFikGcsSIXkmWeKlPGFcIkJA1KJYB84aQUZLS5QRVQHu0I-s1Dtw3sg3qs27NdsRnt5v-vY2FPDyykB4ofCwQ7fRSFTvujLC01cIQ9iGH_PcitvFxEDiXBfrEscbn8vh7_fw8cQN0QvtwJHV78vc9ZrpQLCh-ecOhqp7swVXcEXZXa_Yk_8eeQYfR7PJOBpfT2-6sGN_BJlMuK_QXj2u9SlCo1XSqzbCH6C6Ch4
linkToPdf	http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT-MwEB7xEGglhFheW54-7GUPpklsJ_ERUSqeFQdW4hYljg2VIKk2rVb8e8ZxAi2PC7dItuNoxvZ8kxl_A_CbRQjDRWwoNzqgXPk-zaSK7Y1lFqhACT-vE2QH4dlffnEn7qZKfdVJ-yobHhWPT0fF8KHOrRw9qW6bJ9a9uT7xWewFkndHuenOw6JguMhaR70JIPixx1rkiwggmiorJGqaNssWGlqysIB_ZZJWRmmFgjKuwsVnEPR9JuWUaeqvwWqDKcmx-_afMKeLdVhyVSafN2BwhbPS0tA-2jCrB3I9cQH4igwLggiQXFpqZXwWxNJQE1t3k4xL0iv_29vqtKfvy4r0XCxnE277p7cnZ7Qpo0AVugtjylSUGi2ZQMOE4EmEPJcyDbWu753qjEtLye5xxNm4O1WqFde5l6caXTtbingLFoqy0L-ASE-mIjfMZEJyI1kW5DxjXCJKQOSiWAcOW0EmI0eWkdRB7jhMnNQ78KeVb9KYeGe6EzzBP_Q9mFHA2ysjEcQiwA67rUaSZudVCZ7AQljSNvyY11bcMjYOkha6nFQ43vpdHv-6R4inboyeaAe2nX7f5m7WTAeiGc2_drB03bMtuIpr2u5m1e58e-QhLN_0-snV-eByF364f0E2GW4PFsb_Jnof0dE4O6j3wQt7Rgsx
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=Loss-of-function+mutations+in+the+keratin+5+gene+lead+to+dowling-degos+disease&rft.jtitle=American+journal+of+human+genetics&rft.au=BETZ%2C+Regina+C&rft.au=PLANKO%2C+Laura&rft.au=ROGERS%2C+Michael+A&rft.au=RUZICKA%2C+Thomas&rft.date=2006-03-01&rft.pub=University+of+Chicago+Press&rft.issn=0002-9297&rft.eissn=1537-6605&rft.volume=78&rft.issue=3&rft.spage=510&rft.epage=519&rft_id=info:doi/10.1086%2F500850&rft.externalDBID=n%2Fa&rft.externalDocID=17528520
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