标题
Connexinopathies: a structural and functional glimpse
作者
关键词
Connexins, hemichannels, gap junction channels, structure and function, human genetic disease
出版物
BMC CELL BIOLOGY
Volume 17, Issue S1, Pages -
出版商
Springer Nature
发表日期
2016-05-25
DOI
10.1186/s12860-016-0092-x
参考文献
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。- Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F
- (2015) Felicitas Bosen et al. FEBS LETTERS
- Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract
- (2015) YUANYUAN LIU et al. JOURNAL OF GENETICS
- Keratitis-Ichthyosis-Deafness Syndrome-Associated Cx26 Mutants Produce Nonfunctional Gap Junctions but Hyperactive Hemichannels When Co-Expressed With Wild Type Cx43
- (2015) Isaac E. García et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Connexins, gap junctions and peripheral neuropathy
- (2015) Kleopas A. Kleopa et al. NEUROSCIENCE LETTERS
- Voltage Regulation of Connexin Channel Conductance
- (2015) Seunghoon Oh et al. YONSEI MEDICAL JOURNAL
- Diseases associated with leaky hemichannels
- (2015) Mauricio A. Retamal et al. Frontiers in Cellular Neuroscience
- Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss – A Common Hereditary Deafness
- (2015) Jeffrey C. Wingard et al. Frontiers in Cellular Neuroscience
- Correction: A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract
- (2015) Yanan Zhu et al. PLoS One
- Mutations in cardiovascular connexin genes
- (2014) Filippo Molica et al. BIOLOGY OF THE CELL
- Syndromic and non-syndromic disease-linked Cx43 mutations
- (2014) Dale W. Laird FEBS LETTERS
- Altered Inhibition of Cx26 Hemichannels by pH and Zn2+in the A40V Mutation Associated with Keratitis-Ichthyosis-Deafness Syndrome
- (2014) Helmuth A. Sanchez et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss
- (2014) Helmuth A. Sanchez et al. Frontiers in Cellular Neuroscience
- Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis
- (2014) Yasushi Ogawa et al. PLoS Genetics
- Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2
- (2014) Louise Meigh et al. eLife
- Connexin hemichannels in the lens
- (2014) Eric C. Beyer et al. Frontiers in Physiology
- The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity
- (2013) Pallavi V. Mhaske et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Functional effects of Cx50 mutations associated with congenital cataracts
- (2013) Clio Rubinos et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Conserved glycine at position 45 of major cochlear connexins constitutes a vital component of the Ca2+ sensor for gating of gap junction hemichannels
- (2013) Yanping Zhang et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- A Connexin50 Mutant, CX50fs, That Causes Cataracts Is Unstable, but Is Rescued by a Proteasomal Inhibitor
- (2013) Peter J. Minogue et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms
- (2013) T. Huang et al. JOURNAL OF CELL SCIENCE
- Insights on the mechanisms of Ca2+regulation of connexin26 hemichannels revealed by human pathogenic mutations (D50N/Y)
- (2013) William Lopez et al. JOURNAL OF GENERAL PHYSIOLOGY
- The D50N mutation and syndromic deafness: Altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions
- (2013) Helmuth A. Sanchez et al. JOURNAL OF GENERAL PHYSIOLOGY
- Inherited Peripheral Neuropathies
- (2013) Mario A. Saporta et al. NEUROLOGIC CLINICS
- Analysis of Trafficking, Stability and Function of Human Connexin 26 Gap Junction Channels with Deafness-Causing Mutations in the Fourth Transmembrane Helix
- (2013) Cinzia Ambrosi et al. PLoS One
- How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?
- (2012) Kleopas A. Kleopa et al. BRAIN RESEARCH
- GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
- (2012) Sandra Iossa et al. CURRENT GENOMICS
- Cardiac connexins, mutations and arrhythmias
- (2012) Mario Delmar et al. CURRENT OPINION IN CARDIOLOGY
- Characterization of the Structure and Intermolecular Interactions between the Connexin 32 Carboxyl-terminal Domain and the Protein Partners Synapse-associated Protein 97 and Calmodulin
- (2012) Kelly Stauch et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32
- (2012) Charles K. Abrams et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A dominant negative Cx43 mutant differentially affects tumorigenic and invasive properties in human metastatic melanoma cells
- (2012) Shoshanna N. Zucker et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia
- (2012) Qing Shao et al. MOLECULAR BIOLOGY OF THE CELL
- Critical role of the first transmembrane domain of Cx26 in regulating oligomerization and function
- (2012) Oscar Jara et al. MOLECULAR BIOLOGY OF THE CELL
- X inactivation in females with X-linked Charcot–Marie–Tooth disease
- (2012) Sinéad M. Murphy et al. NEUROMUSCULAR DISORDERS
- Genetics of Neuropathies
- (2012) Carly Siskind et al. SEMINARS IN NEUROLOGY
- Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50
- (2011) Jun-Jie Tong et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Charcot-marie-tooth disease subtypes and genetic testing strategies
- (2011) Anita S.D. Saporta et al. ANNALS OF NEUROLOGY
- Different domains are critical for oligomerization compatibility of different connexins
- (2011) Agustín D. Martínez et al. BIOCHEMICAL JOURNAL
- Voltage-dependent conformational changes in connexin channels
- (2011) Thaddeus A. Bargiello et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Gap junctions in inherited human disorders of the central nervous system
- (2011) Charles K. Abrams et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Ca2+ homeostasis defects and hereditary hearing loss
- (2011) Fabio Mammano BIOFACTORS
- Connexin43 Mutation Causes Heterogeneous Gap Junction Loss and Sudden Infant Death
- (2011) David W. Van Norstrand et al. CIRCULATION
- Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
- (2011) Eugene A. de Zwart-Storm et al. EXPERIMENTAL DERMATOLOGY
- Molecular dynamics simulations of the Cx26 hemichannel: Evaluation of structural models with Brownian dynamics
- (2011) Taekyung Kwon et al. JOURNAL OF GENERAL PHYSIOLOGY
- The Connexin40 A96S Mutation Causes Renin-Dependent Hypertension
- (2011) I. Lubkemeier et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome
- (2011) Gulistan Mese et al. MOLECULAR BIOLOGY OF THE CELL
- Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss
- (2010) Zian Xiao et al. ACTA OTO-LARYNGOLOGICA
- Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss
- (2010) Alessandro Terrinoni et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- 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
- The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants
- (2010) Jared M. Churko et al. BIOCHEMICAL JOURNAL
- Analysis of Four Connexin26 Mutant Gap Junctions and Hemichannels Reveals Variations in Hexamer Stability
- (2010) Cinzia Ambrosi et al. BIOPHYSICAL JOURNAL
- Paradigm of Genetic Mosaicism and Lone Atrial Fibrillation
- (2010) Isabelle L. Thibodeau et al. CIRCULATION
- Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss
- (2010) Hui-Mei Hong et al. HUMAN GENETICS
- 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
- Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26
- (2010) Junxian Zhang et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
- (2010) Sabrina W. Yum et al. NEUROBIOLOGY OF DISEASE
- Lens Gap Junctions in Growth, Differentiation, and Homeostasis
- (2010) Richard T. Mathias et al. PHYSIOLOGICAL REVIEWS
- Two Novel Missense Mutations in the Connexin 26 Gene in Turkish Patients with Nonsyndromic Hearing Loss
- (2009) Akin Yilmaz et al. BIOCHEMICAL GENETICS
- Connexin43 phosphorylation: structural changes and biological effects
- (2009) Joell L. Solan et al. BIOCHEMICAL JOURNAL
- The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium
- (2009) Adam M. DeRosa et al. EXPERIMENTAL CELL RESEARCH
- Different functional consequences of two missense mutations in theGJB2gene associated with non-syndromic hearing loss
- (2009) Soo-Young Choi et al. HUMAN MUTATION
- GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
- (2009) William A. Paznekas et al. HUMAN MUTATION
- Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner
- (2009) E. A. Banks et al. JOURNAL OF CELL SCIENCE
- Conformational changes in a pore-forming region underlie voltage-dependent “loop gating” of an unapposed connexin hemichannel
- (2009) Qingxiu Tang et al. JOURNAL OF GENERAL PHYSIOLOGY
- Connexin32 Mutations Cause Loss of Function in Schwann Cells and Oligodendrocytes Leading to PNS and CNS Myelination Defects
- (2009) I. Sargiannidou et al. JOURNAL OF NEUROSCIENCE
- Structure of the connexin 26 gap junction channel at 3.5 Å resolution
- (2009) Shoji Maeda et al. NATURE
- A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness
- (2008) Eugene A. de Zwart-Storm et al. AMERICAN JOURNAL OF PATHOLOGY
- Connexin26 deafness associated mutations show altered permeability to large cationic molecules
- (2008) Gülistan Meşe et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Gap-Junction Channels Dysfunction in Deafness and Hearing Loss
- (2008) Agustín D. Martínez et al. ANTIOXIDANTS & REDOX SIGNALING
- Remodelling of gap junctions and connexin expression in diseased myocardium
- (2008) N. J. Severs et al. CARDIOVASCULAR RESEARCH
- Spectrum ofGJB2mutations causing deafness in the British Bangladeshi population
- (2008) Y. Bajaj et al. CLINICAL OTOLARYNGOLOGY
- Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
- (2008) Ram Shankar Mani et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
- (2008) T.D. Matos et al. HEARING RESEARCH
- Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation
- (2008) Sharon L. Cushing et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- ODDD-Linked Cx43 Mutants Reduce Endogenous Cx43 Expression and Function in Osteoblasts and Inhibit Late Stage Differentiation
- (2008) Elizabeth McLachlan et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Divalent Cations Regulate Connexin Hemichannels by Modulating Intrinsic Voltage-dependent Gating
- (2008) Vytas K. Verselis et al. JOURNAL OF GENERAL PHYSIOLOGY
- 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
- Central Nervous System Signs in X-Linked Charcot-Marie-Tooth Disease After Hyperventilation
- (2008) Jayasri Srinivasan et al. PEDIATRIC NEUROLOGY
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started