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。Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4
Xilin Zhang et al.
EXPERIMENTAL DERMATOLOGY (2022)
Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva
Sergiu A. Lucaciu et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
The Role of Connexin Hemichannels in Inflammatory Diseases
Bo Peng et al.
BIOLOGY-BASEL (2022)
Cellular mechanisms of connexin-based inherited diseases
Dale W. Laird et al.
TRENDS IN CELL BIOLOGY (2022)
Cell death in skin function, inflammation, and disease
Holly Anderton et al.
BIOCHEMICAL JOURNAL (2022)
The Hydrophobic Residues in Amino Terminal Domains of Cx46 and Cx50 Are Important for Their Gap Junction Channel Ion Permeation and Gating
Roa'a Jaradat et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin
Rasheed A. Bailey et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome
Caterina Sellitto et al.
SCIENTIFIC REPORTS (2021)
Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B
Kayoko Okuda et al.
JOURNAL OF DERMATOLOGY (2020)
Regulation of CFTR Biogenesis by the Proteostatic Network and Pharmacological Modulators
Samuel Estabrooks et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
Mechanisms, regulation and functions of the unfolded protein response
Claudio Hetz et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)
GJB2 Mutations Linked to Hearing Loss Exhibit Differential Trafficking and Functional Defects as Revealed in Cochlear-Relevant Cells
Rianne Beach et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice
Yuanyua Kuang et al.
EBIOMEDICINE (2020)
Connexin hemichannel inhibition improves skin pathology in Clouston syndrome mice
Roberto Bruzzone et al.
EBIOMEDICINE (2020)
Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish
Ryuji Okamoto et al.
PLOS ONE (2020)
Comparative Analysis of Cx31 and Cx43 in Differentiation-Competent Rodent Keratinocytes
Akina Au et al.
BIOMOLECULES (2020)
Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva
Shangzhi Dai et al.
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY (2020)
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death
Jennifer A. Easton et al.
EXPERIMENTAL DERMATOLOGY (2019)
Endoplasmic reticulum stress signalling - from basic mechanisms to clinical applications
Aitor Almanza et al.
FEBS JOURNAL (2019)
Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease
Anthony G. Cocozzelli et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Connexin43 mutations linked to skin disease have augmented hemichannel activity
Miduturu Srinivas et al.
SCIENTIFIC REPORTS (2019)
Connexins and Disease
Mario Delmar et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2018)
Crucial motifs and residues in the extracellular loops influence the formation and specificity of connexin docking
Donglin Bai et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2018)
Human diseases associated with connexin mutations
Miduturu Srinivas et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2018)
Chemical chaperone treatment improves levels and distributions of connexins in Cx50D47A mouse lenses
Oscar Jara et al.
EXPERIMENTAL EYE RESEARCH (2018)
Chemical chaperone, TUDCA unlike PBA, mitigates protein aggregation efficiently and resists ER and non-ER stress induced HepG2 cell death
Jagadeesh Kumar Uppala et al.
SCIENTIFIC REPORTS (2017)
Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?
Yumie Yoshikata-Isokawa et al.
JOURNAL OF DERMATOLOGY (2016)
Erythrokeratodermia variabilis et progressiva
Akemi Ishida-Yamamoto
JOURNAL OF DERMATOLOGY (2016)
Connexin channels in congenital skin disorders
Evelyn Lilly et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2016)
Structural analysis of key gap junction domains-Lessons from genome data and disease-linked mutants
Donglin Bai
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2016)
Connexin gap junction channels and chronic rhinosinusitis
Raymond Kim et al.
INTERNATIONAL FORUM OF ALLERGY & RHINOLOGY (2016)
Connexins and pannexins in the integumentary system: the skin and appendages
Chrysovalantou Faniku et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism
Chengyuan Tang et al.
HUMAN MOLECULAR GENETICS (2015)
Cx30 exhibits unique characteristics including a long half-life when assembled into gap junctions
John J. Kelly et al.
JOURNAL OF CELL SCIENCE (2015)
Case of erythrokeratodermia variabilis successfully treated with oral vitamin A
Hiroko Shizukawa et al.
JOURNAL OF DERMATOLOGY (2015)
Mechanisms linking connexin mutations to human diseases
John J. Kelly et al.
CELL AND TISSUE RESEARCH (2015)
Connexins: Sensors of epidermal integrity that are therapeutic targets
Patricia E. Martin et al.
FEBS LETTERS (2014)
Connexin43 Reduces Melanoma Growth within a Keratinocyte Microenvironment and during Tumorigenesis in Vivo
Mark J. Ableser et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies
Amy C. Berger et al.
JOURNAL OF CELL SCIENCE (2014)
Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating
Xiaoling Tong et al.
JOURNAL OF PHYSIOLOGY-LONDON (2014)
The therapeutic potential of chemical chaperones in protein folding diseases
Leonardo Cortez et al.
PRION (2014)
Connexin expression patterns in diseased human corneas
Jiajie Zhai et al.
EXPERIMENTAL AND THERAPEUTIC MEDICINE (2014)
Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family with Erythrokeratodermia Variabilis
Emilie Sbidian et al.
ACTA DERMATO-VENEREOLOGICA (2013)
Gap Junction Remodeling in Skin Repair Following Wounding and Disease
Jared M. Churko et al.
PHYSIOLOGY (2013)
Functional redundancy and compensation among members of gap junction protein families?
Peter Bedner et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2012)
Connexins in epidermal homeostasis and skin disease
Claire A. Scott et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2012)
Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis
Hong Liu et al.
JOURNAL OF DERMATOLOGY (2012)
Small-molecule proteostasis regulators for protein conformational diseases
Barbara Calamini et al.
NATURE CHEMICAL BIOLOGY (2012)
Erythrokeratodermia variabilis: Report of two cases and a novel missense variant in GJB4 encoding connexin 30.3
Haris Kokotas et al.
EUROPEAN JOURNAL OF DERMATOLOGY (2012)
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis
C. A. Scott et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2011)
The Role of Amino Terminus of Mouse Cx50 in Determining Transjunctional Voltage-Dependent Gating and Unitary Conductance
Li Xin et al.
BIOPHYSICAL JOURNAL (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
The Missense Mutation G12D in Connexin30.3 Can Cause Both Erythrokeratodermia Variabilis of Mendes da Costa and Progressive Symmetric Erythrokeratodermia of Gottron
M. A. M. van Steensel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
EKV mutant connexin 31 associated cell death is mediated by ER stress
Daniel Tattersall et al.
HUMAN MOLECULAR GENETICS (2009)
Functional Annotations Improve the Predictive Score of Human Disease-Related Mutations in Proteins
Remo Calabrese et al.
HUMAN MUTATION (2009)
Connexin expression and gap junctional coupling in human cumulus cells: contribution to embryo quality
H. -X Wang et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2009)
Structure of the connexin 26 gap junction channel at 3.5 Å resolution
Shoji Maeda et al.
NATURE (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Gap Junctions
Daniel A. Goodenough et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2009)
The skin: an indispensable barrier
Ehrhardt Proksch et al.
EXPERIMENTAL DERMATOLOGY (2008)
Characterization of connexin30.3-deficient mice suggests a possible role of connexin30.3 in olfaction
Qingyi Zheng-Fischhoefer et al.
EUROPEAN JOURNAL OF CELL BIOLOGY (2007)
In vivo analysis of undocked connexin43 gap junction hemichannels in ovarian granulosa cells
Dan Tong et al.
JOURNAL OF CELL SCIENCE (2007)
Gap junctions: Basic structure and function
Guelistan Mese et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2007)
Connexin levels regulate keratinocyte differentiation in the epidermis
Stephanie Langlois et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Differentiation of organotypic epidermis in the presence of skin disease-linked dominant-negative cx26 mutants and knockdown cx26
Tamsin Thomas et al.
JOURNAL OF MEMBRANE BIOLOGY (2007)
Functional expression of connexin30 and connexin31 in the polarized human airway epithelium
Ludovic Wiszniewski et al.
DIFFERENTIATION (2007)
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma
Xiang-Qun Gong et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Protein-misfolding diseases and chaperone-based therapeutic approaches
TK Chaudhuri et al.
FEBS JOURNAL (2006)
Life cycle of connexins in health and disease
DW Laird
BIOCHEMICAL JOURNAL (2006)
Pathways and control of connexin oligomerization
M Koval
TRENDS IN CELL BIOLOGY (2006)
Clinical and genetic heterogeneity of erythrokeratoderma variabilis
JEA Common et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Mechanisms of Cx43 and Cx26 transport to the plasma membrane and gap junction regeneration
T Thomas et al.
JOURNAL OF CELL SCIENCE (2005)
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)
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants
E McLachlan et al.
CELL COMMUNICATION AND ADHESION (2005)
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells
LQ He et al.
ACTA BIOCHIMICA ET BIOPHYSICA SINICA (2005)
Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease
GT Cottrell et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2005)
In vivo and in vitro expression of connexins in the human corneal epithelium
DL Shurman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
The cornified envelope: A model of cell death in the skin
E Candi et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2005)
Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions
H Musa et al.
JOURNAL OF PHYSIOLOGY-LONDON (2004)
WebLogo: A sequence logo generator
GE Crooks et al.
GENOME RESEARCH (2004)
Gap junctions and the connexin protein family
G Söhl et al.
CARDIOVASCULAR RESEARCH (2004)
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis
L Plantard et al.
HUMAN MOLECULAR GENETICS (2003)
Genetic heterogeneity in erythrokeratodermia variabilis:: Novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations
G Richard et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2003)
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations
WL Di et al.
HUMAN MOLECULAR GENETICS (2002)