4.7 Article

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva

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。
Review Cell Biology

Cellular mechanisms of connexin-based inherited diseases

Dale W. Laird et al.

Summary: The connexin gene family, consisting of 21 members, can cause over 30 inherited diseases with distinct tissue expression patterns. Mutations may lead to disease in one tissue while other tissues remain unaffected, emphasizing the importance of cellular context. By studying genetically modified mice and tissue-relevant cells, researchers have identified at least a dozen mechanisms underlying connexin-related diseases, laying the foundation for therapeutic interventions.

TRENDS IN CELL BIOLOGY (2022)

Article Cell Biology

Impaired Cx43 gap junction endocytosis causes morphological and functional defects in zebrafish

Caitlin Hyland et al.

Summary: This study investigated the effects of dysregulated Cx43 gap junction endocytosis by deleting a region within the Cx43 CT domain. The deletion caused defective gap junction endocytosis and increased intercellular communication. The findings demonstrate that continuous Cx43 gap junction endocytosis is crucial for gap junction function and impaired endocytosis leads to significant physiological problems, particularly in cardiovascular development and function.

MOLECULAR BIOLOGY OF THE CELL (2021)

Article Genetics & Heredity

Confirming the recessive inheritance of PERP-related erythrokeratoderma

Nisha Patel et al.

CLINICAL GENETICS (2020)

Article Biochemistry & Molecular Biology

Comparative Analysis of Cx31 and Cx43 in Differentiation-Competent Rodent Keratinocytes

Akina Au et al.

BIOMOLECULES (2020)

Article Dermatology

Mutations in PERP Cause Dominant and Recessive Keratoderma

Sabine Duchatelet et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2019)

Letter Dermatology

Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation

A. C. Bursztejn et al.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2019)

Article Genetics & Heredity

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

Changxing Li et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Article Dermatology

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia

Huijun Wang et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2019)

Review Biochemistry & Molecular Biology

Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease

Anthony G. Cocozzelli et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)

Article Multidisciplinary Sciences

Connexin43 mutations linked to skin disease have augmented hemichannel activity

Miduturu Srinivas et al.

SCIENTIFIC REPORTS (2019)

Article Biochemistry & Molecular Biology

The connexin 43 C-terminus: A tail of many tales

Edward Leithe et al.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2018)

Review Biochemistry & Molecular Biology

Connexins: Synthesis, Post-Translational Modifications, and Trafficking in Health and Disease

Trond Aasen et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)

Article Cell Biology

Focus on lens connexins

Viviana M. Berthoud et al.

BMC CELL BIOLOGY (2017)

Article Genetics & Heredity

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

Lynn M. Boyden et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Review Dermatology

Erythrokeratodermia variabilis et progressiva

Akemi Ishida-Yamamoto

JOURNAL OF DERMATOLOGY (2016)

Review Cell Biology

Connexin channels in congenital skin disorders

Evelyn Lilly et al.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Huijun Wang et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

Connexin43 Reduces Melanoma Growth within a Keratinocyte Microenvironment and during Tumorigenesis in Vivo

Mark J. Ableser et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2014)

Article Cardiac & Cardiovascular Systems

Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated

Joanna Gemel et al.

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2014)

Letter Dermatology

Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family with Erythrokeratodermia Variabilis

Emilie Sbidian et al.

ACTA DERMATO-VENEREOLOGICA (2013)

Article Multidisciplinary Sciences

Connexin43 Functions as a Novel Interacting Partner of Heat Shock Cognate Protein 70

Tomoya Hatakeyama et al.

SCIENTIFIC REPORTS (2013)

Article Ophthalmology

Connexin50D47A Decreases Levels of Fiber Cell Connexins and Impairs Lens Fiber Cell Differentiation

Viviana M. Berthoud et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)

Article Ophthalmology

The effect of connexin43 on the level of vascular endothelial growth factor in human retinal pigment epithelial cells

Cady E. Pocrnich et al.

GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2012)

Article Dermatology

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis

C. A. Scott et al.

CLINICAL AND EXPERIMENTAL DERMATOLOGY (2011)

Article Genetics & Heredity

Connexin Mutations in Brazilian Patients With Skin Disorders With or Without Hearing Loss

Fabiana Alexandrino et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Biochemistry & Molecular Biology

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

Daniel Tattersall et al.

HUMAN MOLECULAR GENETICS (2009)

Review Biochemistry & Molecular Biology

Connexin channel permeability to cytoplasmic molecules

Andrew L. Harris

PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY (2007)

Article Genetics & Heredity

Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43

M. Vreeburg et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Cell Biology

Ubiquitin protein ligase Nedd4 binds to connexin43 by a phosphorylation-modulated process

Kerstin Leykauf et al.

JOURNAL OF CELL SCIENCE (2006)

Review Biochemistry & Molecular Biology

Life cycle of connexins in health and disease

DW Laird

BIOCHEMICAL JOURNAL (2006)

Article Biochemistry & Molecular Biology

Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation

AC Maher et al.

CELL COMMUNICATION AND ADHESION (2005)

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)

Article Genetics & Heredity

A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma

MAM van Steensel et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Review Biochemistry & Molecular Biology

The effects of connexin phosphorylation on gap junctional communication

PD Lampe et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2004)

Article Cell Biology

Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43

K Maass et al.

MOLECULAR BIOLOGY OF THE CELL (2004)

Article Genetics & Heredity

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

WA Paznekas et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Biochemistry & Molecular Biology

Interaction of c-Src with gap junction protein connexin-43 - Role in the regulation of cell-cell communication

BNG Giepmans et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

Article Dermatology

Differential expression of connexins during stratification of human keratinocytes

L Wiszniewski et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2000)