Literature DB >> 18412120

Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.

Liviu Feller1, Neil H Wood, Michelle D Sluiter, Claudia Noffke, Erich J Raubenheimer, Johan Lemmer, Elizabeth J van Rensburg.   

Abstract

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Year:  2008        PMID： 18412120     DOI： 10.1002/ajmg.a.32272

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

Authors:  X Huang; N Wang; X Xiao; S Li; Q Zhang
Journal:  Eye (Lond)       Date:  2015-05-15       Impact factor: 3.775

Review 2.  Gap junctions in inherited human disorders of the central nervous system.

Authors:  Charles K Abrams; Steven S Scherer
Journal:  Biochim Biophys Acta       Date:  2011-08-16

3.  Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.

Authors:  Jana Chtchetinin; Wes D Gifford; Sichen Li; William A Paznekas; Ethylin Wang Jabs; Albert Lai
Journal:  FEBS J       Date:  2009-10-27       Impact factor: 5.542

4.  Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.

Authors:  Xueqing Li; Xueshan Xiao; Shiqiang Li; Jiamin Ouyang; Wenmin Sun; Xing Liu; Qingjiong Zhang
Journal:  Mol Vis       Date:  2021-05-13       Impact factor: 2.367

5.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04

6.  Taurodontism in dental genetics.

Authors:  Manogari Chetty; Imaan A Roomaney; Peter Beighton
Journal:  BDJ Open       Date:  2021-07-09
  6 in total

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