The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation

(2010) Alessandro Terrinoni et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

(2010) U. Koppelhus et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form

(2010) E Sbidian et al.   CLINICAL GENETICS

Cell membrane permeabilization via connexin hemichannels in living and dying cells

(2010) Juan C. Sáez et al.   EXPERIMENTAL CELL RESEARCH

The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome

(2010) M. Schutz et al.   HUMAN MOLECULAR GENETICS

Differentially altered Ca2+regulation and Ca2+permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome

(2010) Helmuth A. Sánchez et al.   JOURNAL OF GENERAL PHYSIOLOGY

Dysfunctions of the Diffusional Membrane Pathways Mediated Hemichannels in Inherited and Acquired Human Diseases

(2009) Kurt Schalper et al.   Current Vascular Pharmacology

Connexin-26 mutations in deafness and skin disease

(2009) Jack R. Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Epidermal homeostasis: a balancing act of stem cells in the skin

(2009) Cédric Blanpain et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Connexin26 deafness associated mutations show altered permeability to large cationic molecules

(2008) Gülistan Meşe et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The hairless mouse in skin research

(2008) Fernando Benavides et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Connexin Mutations Causing Skin Disease and Deafness Increase Hemichannel Activity and Cell Death when Expressed in Xenopus Oocytes

(2008) Jack R. Lee et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

A Report ofGJB2(N14K) Connexin 26 Mutation in Two Patients-A New Subtype of KID Syndrome?

(2008) Tamara Lazic et al.   PEDIATRIC DERMATOLOGY

Connexins, pannexins, innexins: novel roles of “hemi-channels”

(2008) Eliana Scemes et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E

(2007) Laurence Jonard et al.   European Journal of Medical Genetics