4.5 Article

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

Haim Ashkenazy et al.

NUCLEIC ACIDS RESEARCH (2010)

Review Cell Biology

The gap junction proteome and its relationship to disease

Dale W. Laird

TRENDS IN CELL BIOLOGY (2010)

Article Biochemistry & Molecular Biology

EKV mutant connexin 31 associated cell death is mediated by ER stress

Daniel Tattersall et al.

HUMAN MOLECULAR GENETICS (2009)

Article Dermatology

The skin: an indispensable barrier

Ehrhardt Proksch et al.

EXPERIMENTAL DERMATOLOGY (2008)

Review Pathology

Clinical connexions

B. Alldredge

JOURNAL OF CLINICAL PATHOLOGY (2008)

Review Dermatology

Genetic diseases of junctions

Joey E. Lai-Cheong et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)

Review Dermatology

Gap junctions: Basic structure and function

Guelistan Mese et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)

Review Biochemistry & Molecular Biology

Molecular basis of voltage dependence of connexin channels:: An integrative appraisal

Daniel Gonzalez et al.

PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY (2007)

Article Audiology & Speech-Language Pathology

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan

Jiann-Jou Yang et al.

AUDIOLOGY AND NEURO-OTOLOGY (2007)

Article Dermatology

Molecular epidemiology of hereditary epidermolysis bullosa in a middle eastern population

Judeh Abu Sa'd et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)

Article Biochemistry & Molecular Biology

Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells

LQ He et al.

ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2005)

Article Dermatology

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis

SM Morley et al.

BRITISH JOURNAL OF DERMATOLOGY (2005)

Letter Dermatology

Novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis

A Terrinoni et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2004)

Article Biochemistry & Molecular Biology

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

N López-Bigas et al.

HUMAN MOLECULAR GENETICS (2001)

Article Biochemistry & Molecular Biology

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

XZ Liu et al.

HUMAN MOLECULAR GENETICS (2000)