FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051497990> ?p ?o ?g. }

• W2051497990 endingPage "566" @default.
• W2051497990 startingPage "558" @default.
• W2051497990 abstract "Congenital cataract, a clinically and genetically highly heterogeneous eye disorder, is one of the significant causes of visual impairment or blindness in children. It is frequently inherited as an autosomal dominant trait. We investigated a three-generation family of Indian origin with 12 members affected with cerulean cataract. Linkage analysis was carried out in this family using more than 100 microsatellite markers for the known cataract candidate gene loci. A positive two-point lod score of 3.9 at θ = 0.000, indicative of linkage, was obtained with three microsatellite markers for chromosome 16. Multipoint and haplotype analysis narrowed the cataract locus to a 15.3 cM region between markers D16S518 and D16S511 that corresponds to the region 16q23.1. Direct sequencing of the candidate gene MAF, which lies in the critical linked region, revealed a novel heterozygous missense mutation in the basic region (BR) of the DNA-binding domain. This sequence change was considered pathogenic as it segregated in all affected family members, neither seen in unaffected family members nor in 106 unrelated controls. The mutation also results in substitution of highly conserved lysine 297 by arginine (K297R) that affects a residue that forms a part of a predicted DNA-interaction region of the protein. The association of microcornea with congenital cataract in some affected individuals further underlines the role of the MAF transcription factor in lens and anterior ocular development. Our findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract. © 2006 Wiley-Liss, Inc." @default.
• W2051497990 created "2016-06-24" @default.
• W2051497990 creator A5013150230 @default.
• W2051497990 creator A5033225381 @default.
• W2051497990 creator A5062010372 @default.
• W2051497990 creator A5062257202 @default.
• W2051497990 creator A5087954159 @default.
• W2051497990 date "2006-01-01" @default.
• W2051497990 modified "2023-10-18" @default.
• W2051497990 title "A novel mutation in the DNA-binding domain ofMAF at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family" @default.
• W2051497990 cites W1599310299 @default.
• W2051497990 cites W180015230 @default.
• W2051497990 cites W1965680787 @default.
• W2051497990 cites W1973838642 @default.
• W2051497990 cites W1977620015 @default.
• W2051497990 cites W1980473808 @default.
• W2051497990 cites W1990833888 @default.
• W2051497990 cites W2009578263 @default.
• W2051497990 cites W2028263455 @default.
• W2051497990 cites W2060809301 @default.
• W2051497990 cites W2085582334 @default.
• W2051497990 cites W2091903919 @default.
• W2051497990 cites W2107254532 @default.
• W2051497990 cites W2115644880 @default.
• W2051497990 cites W2121370826 @default.
• W2051497990 cites W2121858619 @default.
• W2051497990 cites W2135509125 @default.
• W2051497990 cites W2150498320 @default.
• W2051497990 cites W2152436833 @default.
• W2051497990 cites W2161999936 @default.
• W2051497990 cites W2170278458 @default.
• W2051497990 cites W2320180638 @default.
• W2051497990 cites W4211111623 @default.
• W2051497990 doi "https://doi.org/10.1002/ajmg.a.31126" @default.
• W2051497990 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16470690" @default.
• W2051497990 hasPublicationYear "2006" @default.
• W2051497990 type Work @default.
• W2051497990 sameAs 2051497990 @default.
• W2051497990 citedByCount "78" @default.
• W2051497990 countsByYear W20514979902012 @default.
• W2051497990 countsByYear W20514979902013 @default.
• W2051497990 countsByYear W20514979902014 @default.
• W2051497990 countsByYear W20514979902015 @default.
• W2051497990 countsByYear W20514979902016 @default.
• W2051497990 countsByYear W20514979902017 @default.
• W2051497990 countsByYear W20514979902018 @default.
• W2051497990 countsByYear W20514979902019 @default.
• W2051497990 countsByYear W20514979902020 @default.
• W2051497990 countsByYear W20514979902022 @default.
• W2051497990 countsByYear W20514979902023 @default.
• W2051497990 crossrefType "journal-article" @default.
• W2051497990 hasAuthorship W2051497990A5013150230 @default.
• W2051497990 hasAuthorship W2051497990A5033225381 @default.
• W2051497990 hasAuthorship W2051497990A5062010372 @default.
• W2051497990 hasAuthorship W2051497990A5062257202 @default.
• W2051497990 hasAuthorship W2051497990A5087954159 @default.
• W2051497990 hasConcept C104317684 @default.
• W2051497990 hasConcept C127716648 @default.
• W2051497990 hasConcept C135763542 @default.
• W2051497990 hasConcept C142870003 @default.
• W2051497990 hasConcept C176944494 @default.
• W2051497990 hasConcept C180754005 @default.
• W2051497990 hasConcept C197754878 @default.
• W2051497990 hasConcept C501734568 @default.
• W2051497990 hasConcept C54355233 @default.
• W2051497990 hasConcept C61320498 @default.
• W2051497990 hasConcept C64618202 @default.
• W2051497990 hasConcept C69991583 @default.
• W2051497990 hasConcept C75563809 @default.
• W2051497990 hasConcept C84597430 @default.
• W2051497990 hasConcept C86803240 @default.
• W2051497990 hasConceptScore W2051497990C104317684 @default.
• W2051497990 hasConceptScore W2051497990C127716648 @default.
• W2051497990 hasConceptScore W2051497990C135763542 @default.
• W2051497990 hasConceptScore W2051497990C142870003 @default.
• W2051497990 hasConceptScore W2051497990C176944494 @default.
• W2051497990 hasConceptScore W2051497990C180754005 @default.
• W2051497990 hasConceptScore W2051497990C197754878 @default.
• W2051497990 hasConceptScore W2051497990C501734568 @default.
• W2051497990 hasConceptScore W2051497990C54355233 @default.
• W2051497990 hasConceptScore W2051497990C61320498 @default.
• W2051497990 hasConceptScore W2051497990C64618202 @default.
• W2051497990 hasConceptScore W2051497990C69991583 @default.
• W2051497990 hasConceptScore W2051497990C75563809 @default.
• W2051497990 hasConceptScore W2051497990C84597430 @default.
• W2051497990 hasConceptScore W2051497990C86803240 @default.
• W2051497990 hasIssue "6" @default.
• W2051497990 hasLocation W20514979901 @default.
• W2051497990 hasLocation W20514979902 @default.
• W2051497990 hasOpenAccess W2051497990 @default.
• W2051497990 hasPrimaryLocation W20514979901 @default.
• W2051497990 hasRelatedWork W1984120613 @default.
• W2051497990 hasRelatedWork W2004065624 @default.
• W2051497990 hasRelatedWork W2027181866 @default.
• W2051497990 hasRelatedWork W2032139146 @default.
• W2051497990 hasRelatedWork W2032418376 @default.
• W2051497990 hasRelatedWork W2046632616 @default.
• W2051497990 hasRelatedWork W2089703083 @default.

• next