Connexin46 Mutations in Autosomal Dominant Congenital Cataract

Basic local alignment search tool

1990 • 87,358 citations

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1996 • 2,983 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1997 • 1,435 citations

Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

1993 • 1,055 citations

Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes.

1991 • 600 citations

Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

1998 • 506 citations

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1998 • 441 citations

Disruption of α3 Connexin Gene Leads to Proteolysis and Cataractogenesis in Mice

1997 • 415 citations

Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

1998 • 415 citations

Diverse functions of vertebrate gap junctions

1998 • 398 citations

Mutations of theConnexin43Gap-Junction Gene in Patients with Heart Malformations and Defects of Laterality

1995 • 376 citations

A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

1998 • 373 citations

Targeted Ablation of Connexin50 in Mice Results in Microphthalmia and Zonular Pulverulent Cataracts

1998 • 354 citations

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1998 • 343 citations

Selective interactions among the multiple connexin proteins expressed in the vertebrate lens: the second extracellular domain is a determinant of compatibility between connexins.

1994 • 286 citations

Heteromeric connexons in lens gap junction channels.

1996 • 273 citations

The human gene mutation database

1997 • 267 citations

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human -Crystallin Gene CRYBB2

1997 • 238 citations

Infantile cataracts

1996 • 232 citations

Progressive juvenile-onset punctate cataracts caused by mutation of the γD-crystallin gene

1999 • 196 citations

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

1998 • 132 citations

Lens Disorders: A Clinical Manual of Cataract Diagnosis

1996 • 118 citations

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

1998 • 99 citations

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1995 • 89 citations

A progressive early onset cataract gene maps to human chromosome 17q24

1995 • 87 citations

Activation of the ΓE-crystallin pseudogene in the human hereditary Coppock-like cataract

1994 • 84 citations

A locus for autosomal dominant posterior polar cataract on chromosome 1p

1997 • 82 citations

A computer program to make linkage analysis with <scp>liped</scp> and <scp>linkage</scp> easier to perform and less prone to input errors

1988 • 74 citations

The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

1996 • 66 citations

A New Locus for Dominant “Zonular Pulverulent” Cataract, on Chromosome 13

1997 • 66 citations

A locus for autosomal dominant anterior polar cataract on chromosome 17p

1996 • 64 citations

Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin

1988 • 60 citations

Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11→q12 and mouse chromosome 14D1-E1 by in situ hybridization

1996 • 33 citations

Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11-q12.1 with Evidence for Multiple Independent Mutations

1998 • 32 citations

Inherited Eye Disease

1996 • 6 citations