Published in BMC Med Genet on May 04, 2016
Basic local alignment search tool. J Mol Biol (1990) 659.07
VMD: visual molecular dynamics. J Mol Graph (1996) 117.02
SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis (1997) 57.27
Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations. J Mol Biol (2002) 9.74
A graph-theory algorithm for rapid protein side-chain prediction. Protein Sci (2003) 9.25
Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature (2009) 4.44
Gap junctions: structure and function (Review). Mol Membr Biol (2002) 2.58
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol (1997) 2.56
Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) (1995) 2.47
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11
Connexin disorders of the ear, skin, and lens. Biochim Biophys Acta (2004) 1.75
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet (2002) 1.71
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet (1999) 1.65
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett (2003) 1.56
A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet (2004) 1.56
Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs. Pediatr Dermatol (1998) 1.49
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol (2007) 1.48
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. J Biol Chem (2002) 1.45
Gap junctions and cochlear homeostasis. J Membr Biol (2006) 1.41
Connexin disorders of the skin. Clin Dermatol (2005) 1.17
Insights on the mechanisms of Ca(2+) regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y). J Gen Physiol (2013) 1.06
Functional analysis of human Cx26 mutations associated with deafness. Brain Res Brain Res Rev (2000) 1.04
The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions. J Gen Physiol (2013) 1.01
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol (2003) 1.00
Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol (1987) 0.97
Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome. Case reports of a mother and daughter. J Am Acad Dermatol (1990) 0.97
The KID-syndrome in Finland. A report of four cases. Acta Ophthalmol (Copenh) (1988) 0.96
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. Mol Cell Neurosci (2010) 0.92
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochem Biophys Res Commun (2010) 0.91
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet (2008) 0.91
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. BMC Med Genet (2013) 0.90
GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. Audiol Neurootol (2009) 0.89
Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. Br J Dermatol (1990) 0.88
Changing patterns of gap junctional intercellular communication and connexin distribution in mouse epidermis and hair follicles during embryonic development. Dev Dyn (1997) 0.88
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. Front Cell Neurosci (2014) 0.86
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. Pediatr Dermatol (2011) 0.85
[Genetic study of hearing loss in families from Argentina]. Rev Fac Cien Med Univ Nac Cordoba (2004) 0.81
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. Br J Dermatol (2011) 0.78
Corneal effect of isotretinoin: possible exacerbation of corneal neovascularization in a patient with the keratitis, ichthyosis, deafness ("KID") syndrome. J Am Acad Dermatol (1986) 0.78
Keratitis, ichthyosis, and deafness (KID) syndrome: management with chronic oral ketoconazole therapy. Int J Dermatol (1992) 0.77
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. Int J Dermatol (2009) 0.77
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2. Int J Pediatr Otorhinolaryngol (2009) 0.77
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases. Mol Biol Rep (2013) 0.76
Keratitis, ichthyosis and deafness (KID) syndrome. Int J Dermatol (1997) 0.76