Literature DB >> 16222672

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia.

Jari Honkaniemi, Juha-Pekka Kalkkila, Pasi Koivisto, Veikko Kähärä, Terho Latvala, Kalle Simola.   

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Year:  2005        PMID： 16222672     DOI： 10.1002/ajmg.a.30925

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


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  8 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

Review 3.  Connexins and Pannexins in Bone and Skeletal Muscle.

Authors:  Lilian I Plotkin; Hannah M Davis; Bruno A Cisterna; Juan C Sáez
Journal:  Curr Osteoporos Rep       Date:  2017-08       Impact factor: 5.096

4.  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

5.  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

Review 6.  Role of connexins and pannexins during ontogeny, regeneration, and pathologies of bone.

Authors:  Lilian I Plotkin; Dale W Laird; Joelle Amedee
Journal:  BMC Cell Biol       Date:  2016-05-24       Impact factor: 4.241

7.  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

Review 8.  Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

Authors:  Marijke De Bock; Marianne Kerrebrouck; Nan Wang; Luc Leybaert
Journal:  Front Pharmacol       Date:  2013-09-26       Impact factor: 5.810
  8 in total

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