Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
Paznekas WA, Boyadjiev SA, Shapiro RE et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003: 72: 408-418.
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
Paznekas WA, Karczeski B, Vermeer S et al. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009: 30: 724-733.
Specific motifs in the external loops of connexin proteins can determine gap junction formation between chick heart myocytes
Warner A, Clements DK, Parikh S et al. Specific motifs in the external loops of connexin proteins can determine gap junction formation between chick heart myocytes. J Physiol (Lond) 1995: 488: 721-728.
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
Ostergaard P, Simpson MA, Brice G et al. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. J Med Genet 2011: 48: 251-255.
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly
Richardson RR, Donnai D, Meire F et al. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet 2004: 41: 60-67.
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia
Flenniken AM, Osborne LR, Anderson N et al. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Development 2005: 132: 4375-4386.
Roles for alpha 1 connexin in morphogenesis of chick embryos revealed using a novel antisense approach
Becker DL, McGonnell I, Makarenkova HP et al. Roles for alpha 1 connexin in morphogenesis of chick embryos revealed using a novel antisense approach. Dev Genet 1999: 24: 33-42.
Connexin 37 and Connexin 43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax
Kanady JD, Dellinger MT, Munger SJ et al. Connexin 37 and Connexin 43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax. Dev Biol 2011: 354: 253-266.
