Literature DB >> 14729836

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.

R Richardson, D Donnai, F Meire, M J Dixon.   

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Year:  2004        PMID: 14729836      PMCID: PMC1757241          DOI: 10.1136/jmg.2003.012005

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  36 in total

Review 1.  Roles of gap junctions and hemichannels in bone cell functions and in signal transmission of mechanical stress.

Authors:  Jean Xin Jiang; Arlene Janel Siller-Jackson; Sirisha Burra
Journal:  Front Biosci       Date:  2007-01-01

Review 2.  Life cycle of connexins in health and disease.

Authors:  Dale W Laird
Journal:  Biochem J       Date:  2006-03-15       Impact factor: 3.857

3.  A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

Authors:  R J Richardson; S Joss; S Tomkin; M Ahmed; E Sheridan; M J Dixon
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

Review 4.  Gap junctions in inherited human disease.

Authors:  Georg Zoidl; Rolf Dermietzel
Journal:  Pflugers Arch       Date:  2010-02-07       Impact factor: 3.657

5.  A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes.

Authors:  Sameh Wasseff; Charles K Abrams; Steven S Scherer
Journal:  Neuron Glia Biol       Date:  2011-03-04

6.  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 7.  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 8.  Biological role of connexin intercellular channels and hemichannels.

Authors:  Rekha Kar; Nidhi Batra; Manuel A Riquelme; Jean X Jiang
Journal:  Arch Biochem Biophys       Date:  2012-03-17       Impact factor: 4.013

9.  Attenuated response to in vivo mechanical loading in mice with conditional osteoblast ablation of the connexin43 gene (Gja1).

Authors:  Susan K Grimston; Michael D Brodt; Matthew J Silva; Roberto Civitelli
Journal:  J Bone Miner Res       Date:  2008-06       Impact factor: 6.741

10.  Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Authors:  Jennifer L Orthmann-Murphy; Ettore Salsano; Charles K Abrams; Alberto Bizzi; Graziella Uziel; Mona M Freidin; Eleonora Lamantea; Massimo Zeviani; Steven S Scherer; Davide Pareyson
Journal:  Brain       Date:  2008-12-04       Impact factor: 13.501

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