{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:07:50Z","timestamp":1791896870400,"version":"4.3.4"},"reference-count":58,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2817,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2005,11]]},"DOI":"10.1086\/497348","type":"journal-article","created":{"date-parts":[[2005,10,7]],"date-time":"2005-10-07T14:19:47Z","timestamp":1128694787000},"page":"694-708","source":"Crossref","is-referenced-by-count":128,"title":["Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells"],"prefix":"10.1016","volume":"77","author":[{"given":"Charles M.","family":"Krafchak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemant","family":"Pawar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayoko E.","family":"Moroi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Sugar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul R.","family":"Lichter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahzad","family":"Mian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Nairus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Elner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam T.","family":"Schteingart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Downs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa Guckian","family":"Kijek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenae M.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward H.","family":"Trager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank W.","family":"Rozsa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Md Nawajes","family":"Ali Mandal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Epstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Vollrath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radha","family":"Ayyagari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Boehnke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia E.","family":"Richards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/497348_bib9","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1136\/bmj.1.3454.504","article-title":"Hereditary familial congenital haemorrhagic nephritis","volume":"1","author":"Alport","year":"1927","journal-title":"Br Med J"},{"key":"10.1086\/497348_bib10","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1038\/sj.ejhg.5200387","article-title":"Germline and gonosomal mosaicism in the ATR-X syndrome","volume":"7","author":"Bachoo","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/497348_bib11","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.2349482","article-title":"Identification of mutations in the COL4A5 collagen gene in Alport syndrome","volume":"248","author":"Barker","year":"1990","journal-title":"Science"},{"key":"10.1086\/497348_bib12","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1093\/hmg\/ddh134","article-title":"Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease","volume":"13","author":"Beck","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s10029-004-0217-6","article-title":"The unified theory of hernia formation","volume":"8","author":"Bendavid","year":"2004","journal-title":"Hernia"},{"key":"10.1086\/497348_bib14","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1093\/hmg\/10.21.2415","article-title":"Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy","volume":"10","author":"Biswas","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib15","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/0002-9394(71)91683-7","article-title":"Electron microscopy of posterior polymorphous degeneration","volume":"72","author":"Boruchoff","year":"1971","journal-title":"Am J Ophthalmol"},{"key":"10.1086\/497348_bib16","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0022-2836(91)90380-O","article-title":"Prediction of human mRNA donor and acceptor sites from the DNA sequence","volume":"220","author":"Brunak","year":"1991","journal-title":"J Mol Biol"},{"key":"10.1086\/497348_bib17","doi-asserted-by":"crossref","first-page":"273S","DOI":"10.1042\/bst024273s","article-title":"Detection of germinal mosaicism in a DMD family","volume":"24","author":"Bullock","year":"1996","journal-title":"Biochem Soc Trans"},{"key":"10.1086\/497348_bib18","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.31.4.306","article-title":"The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene","volume":"31","author":"Carr","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/497348_bib19","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1001\/archopht.1977.04450090051002","article-title":"The clinical spectrum of posterior polymorphous dystrophy","volume":"95","author":"Cibis","year":"1977","journal-title":"Arch Ophthalmol"},{"key":"10.1086\/497348_bib20","doi-asserted-by":"crossref","first-page":"161","DOI":"10.3109\/13816819709041431","article-title":"Alport syndrome: a review of the ocular manifestations","volume":"18","author":"Colville","year":"1997","journal-title":"Ophthalmic Genet"},{"key":"10.1086\/497348_bib21","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0006-291X(02)00880-X","article-title":"Cell-specific phosphorylation of Zfhep transcription factor","volume":"296","author":"Costantino","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/497348_bib22","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/ajmg.a.30162","article-title":"Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency","volume":"129","author":"Cutler","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1086\/497348_bib23","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1101\/gr.8.3.175","article-title":"Base-calling of automated sequencer traces using phred. II. Error probabilities","volume":"8","author":"Ewing","year":"1998","journal-title":"Genome Res"},{"key":"10.1086\/497348_bib24","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/BF03260054","article-title":"Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene","volume":"8","author":"Ferreiro","year":"2004","journal-title":"Mol Diagn"},{"key":"10.1086\/497348_bib25","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1097\/00000658-199312000-00009","article-title":"Increases in type III collagen gene expression and protein synthesis in patients with inguinal hernias","volume":"218","author":"Friedman","year":"1993","journal-title":"Ann Surg"},{"key":"10.1086\/497348_bib26","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1083\/jcb.127.4.1085","article-title":"E1a induces the expression of epithelial characteristics","volume":"127","author":"Frisch","year":"1994","journal-title":"J Cell Biol"},{"key":"10.1086\/497348_bib27","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1101\/gr.8.3.195","article-title":"Consed: a graphical tool for sequence finishing","volume":"8","author":"Gordon","year":"1998","journal-title":"Genome Res"},{"key":"10.1086\/497348_bib28","doi-asserted-by":"crossref","first-page":"3823","DOI":"10.1038\/sj.onc.1203721","article-title":"Evidence for a function of CtBP in epithelial gene regulation and anoikis","volume":"19","author":"Grooteclaes","year":"2000","journal-title":"Oncogene"},{"key":"10.1086\/497348_bib29","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/geno.1999.5920","article-title":"Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping","volume":"61","author":"Hand","year":"1999","journal-title":"Genomics"},{"key":"10.1086\/497348_bib30","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1093\/nar\/24.17.3439","article-title":"Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information","volume":"24","author":"Hebsgaard","year":"1996","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/497348_bib31","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/hmg\/11.9.1029","article-title":"VSX1: a gene for posterior polymorphous dystrophy and keratoconus","volume":"11","author":"Heon","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib32","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1093\/hmg\/4.3.485","article-title":"Linkage of posterior polymorphous corneal dystrophy to 20q11","volume":"4","author":"Heon","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib33","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1084\/jem.185.8.1467","article-title":"Impairment of T cell development in deltaEF1 mutant mice","volume":"185","author":"Higashi","year":"1997","journal-title":"J Exp Med"},{"key":"10.1086\/497348_bib34","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1111\/j.1432-1033.1995.073_1.x","article-title":"DNA binding through distinct domains of zinc-finger-homeodomain protein AREB6 has different effects on gene transcription","volume":"233","author":"Ikeda","year":"1995","journal-title":"Eur J Biochem"},{"key":"10.1086\/497348_bib35","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S0031-3955(05)70044-4","article-title":"Pediatric hernias and hydroceles","volume":"45","author":"Kapur","year":"1998","journal-title":"Pediatr Clin North Am"},{"key":"10.1086\/497348_bib36","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/0012-1606(92)90239-D","article-title":"The role of the basement membrane in differential expression of keratin proteins in epithelial cells","volume":"150","author":"Kurpakus","year":"1992","journal-title":"Dev Biol"},{"key":"10.1086\/497348_bib37","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1093\/hmg\/3.8.1269","article-title":"Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome","volume":"3","author":"Lemmink","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib38","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1016\/j.ygeno.2003.09.020","article-title":"Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression","volume":"83","author":"Mandal","year":"2004","journal-title":"Genomics"},{"key":"10.1086\/497348_bib39","first-page":"801","article-title":"Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins","volume":"54","author":"Martha","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/497348_bib40","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/ng0793-219","article-title":"Nonsense mutations and diminished mRNA levels","volume":"4","author":"McIntosh","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/497348_bib41","series-title":"The cornea","first-page":"453","article-title":"Endothelial dystrophies","author":"Miller","year":"1997"},{"key":"10.1086\/497348_bib42","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/ng0994-77","article-title":"Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome","volume":"8","author":"Mochizuki","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/497348_bib43","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/S0002-9394(02)02032-9","article-title":"Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy","volume":"135","author":"Moroi","year":"2003","journal-title":"Am J Ophthalmol"},{"key":"10.1086\/497348_bib44","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/emm.2003.16","article-title":"De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases","volume":"35","author":"Mukherjee","year":"2003","journal-title":"Exp Mol Med"},{"issue":"Pt 4","key":"10.1086\/497348_bib45","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1242\/jcs.105.4.923","article-title":"Expression of E- or P-cadherin is not sufficient to modify the morphology and the tumorigenic behavior of murine spindle carcinoma cells: possible involvement of plakoglobin","volume":"105","author":"Navarro","year":"1993","journal-title":"J Cell Sci"},{"key":"10.1086\/497348_bib46","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/nar\/25.14.2745","article-title":"PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing","volume":"25","author":"Nickerson","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/497348_bib47","doi-asserted-by":"crossref","first-page":"10429","DOI":"10.1073\/pnas.1734137100","article-title":"WNT7a induces E-cadherin in lung cancer cells","volume":"100","author":"Ohira","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/497348_bib48","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1136\/bjo.53.9.577","article-title":"Congenital endothelial corneal dystrophy: clinical, pathological, and genetic study","volume":"53","author":"Pearce","year":"1969","journal-title":"Br J Ophthalmol"},{"key":"10.1086\/497348_bib49","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1136\/jmg.38.12.820","article-title":"A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association","volume":"38","author":"Reardon","year":"2001","journal-title":"J Med Genet"},{"key":"10.1086\/497348_bib50","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie","volume":"4","author":"Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"10.1086\/497348_bib51","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/S0168-9525(00)02024-2","article-title":"EMBOSS: the European Molecular Biology Open Software Suite","volume":"16","author":"Rice","year":"2000","journal-title":"Trends Genet"},{"key":"10.1086\/497348_bib52","first-page":"832","article-title":"Epithelialization of the corneal endothelium in posterior polymorphous dystrophy","volume":"19","author":"Rodrigues","year":"1980","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1086\/497348_bib53","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/0014-4827(87)90254-0","article-title":"Immunoelectronmicroscopic localization of extracellular matrix components produced by bovine corneal endothelial cells in vitro","volume":"171","author":"Sawada","year":"1987","journal-title":"Exp Cell Res"},{"key":"10.1086\/497348_bib54","first-page":"226","article-title":"The basement membrane of bovine corneal endothelial cells in culture with beta-aminopropionitrile: biosynthesis of hexagonal lattices composed of a 160 nm dumbbell-shaped structure","volume":"35","author":"Sawada","year":"1984","journal-title":"Eur J Cell Biol"},{"key":"10.1086\/497348_bib55","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1086\/302726","article-title":"Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents","volume":"66","author":"Sgambati","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/497348_bib56","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1002\/ajmg.a.30267","article-title":"A locus for posterior polymorphous dystrophy (PPCD3) maps to chromosome 10","volume":"130","author":"Shimizu","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1086\/497348_bib57","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1007\/s00063-004-1086-6","article-title":"Concomitant diseases in primary joint hypermobility syndrome","volume":"99","author":"Skoumal","year":"2004","journal-title":"Med Klin"},{"key":"10.1086\/497348_bib58","volume":"Vol 1","author":"Spencer","year":"1996"},{"key":"10.1086\/497348_bib59","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1242\/dev.125.1.21","article-title":"DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages","volume":"125","author":"Takagi","year":"1998","journal-title":"Development"},{"key":"10.1086\/497348_bib60","series-title":"Neaonatal surgery","first-page":"367","article-title":"Inguinal hernia","author":"Tam","year":"1990"},{"key":"10.1086\/497348_bib61","doi-asserted-by":"crossref","first-page":"37011","DOI":"10.1074\/jbc.M104185200","article-title":"Delta Ef1 binds to a far upstream sequence of the mouse pro-alpha 1(I) collagen gene and represses its expression in osteoblasts","volume":"276","author":"Terraz","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1086\/497348_bib62","doi-asserted-by":"crossref","first-page":"2395","DOI":"10.1093\/hmg\/4.12.2395","article-title":"Linkage of congenital hereditary endothelial dystrophy to chromosome 20","volume":"4","author":"Toma","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib63","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/hmg\/7.7.1091","article-title":"Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome","volume":"7","author":"Vollrath","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/497348_bib64","first-page":"325","article-title":"Clinical and pathologic alterations of Descemet's membrane: with emphasis on endothelial metaplasia","volume":"18","author":"Waring","year":"1974","journal-title":"Surv Ophthalmol"},{"key":"10.1086\/497348_bib65","first-page":"1063","article-title":"Posterior membrane dystrophies","volume":"Vol 2","author":"Weisenthal","year":"1997"},{"key":"10.1086\/497348_bib66","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1126\/science.1840704","article-title":"Identification of a zinc finger protein that inhibits IL-2 gene expression","volume":"254","author":"Williams","year":"1991","journal-title":"Science"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633552?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633552?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T12:20:18Z","timestamp":1626610818000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707633552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":58,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["S0002929707633552"],"URL":"https:\/\/doi.org\/10.1086\/497348","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]}}}