Associated Papers
Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D et al.
International Journal of Molecular Sciences, 2021
34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-5_Final_021921.xlsx › Table_S3.5
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.
Kumar V et al.
Case Reports in Ophthalmological Medicine, 2020
32318302 (PubMed )
Supplement: 6535974.f1.xlsx › Sheet1
Decidual angiogenesis and placental orientation are altered in mice heterozygous for a dominant loss-of-function Gja1 (connexin43) mutation.
Winterhager E et al.
Biology of Reproduction, 2013
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse.
Tong D et al.
Biology of Reproduction, 2009
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
Novel mutations in GJA1 cause oculodentodigital syndrome.
Fenwick A et al.
Journal of Dental Research, 2008
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
Laird DW
The Journal of Biological Chemistry, 2008
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
Vasconcellos JP et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2005
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia.
Tong D et al.
Disease Models & Mechanisms, 0
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