标题
Syndromic and non-syndromic disease-linked Cx43 mutations
作者
关键词
-
出版物
FEBS LETTERS
Volume 588, Issue 8, Pages 1339-1348
出版商
Wiley
发表日期
2014-01-14
DOI
10.1016/j.febslet.2013.12.022
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。- Congenital heart defects in oculodentodigital dysplasia: Report of two cases
- (2013) Kosuke Izumi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Myogenic bladder defects in mouse models of human oculodentodigital dysplasia
- (2013) Tao Huang et al. BIOCHEMICAL JOURNAL
- Decidual Angiogenesis and Placental Orientation Are Altered in Mice Heterozygous for a Dominant Loss-of-Function Gja1 (Connexin43) Mutation1
- (2013) Elke Winterhager et al. BIOLOGY OF REPRODUCTION
- Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque
- (2013) Esperanza Agullo-Pascual et al. CARDIOVASCULAR RESEARCH
- A novel mutation inGJA1causing oculodentodigital syndrome and primary lymphoedema in a three generation family
- (2013) G Brice et al. CLINICAL GENETICS
- The G60S connexin 43 mutation activates the osteoblast lineage and results in a resorption-stimulating bone matrix and abrogation of old-age-related bone loss
- (2013) Tanya Zappitelli et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms
- (2013) T. Huang et al. JOURNAL OF CELL SCIENCE
- The antiarrhythmic dipeptide ZP1609 (danegaptide) when given at reperfusion reduces myocardial infarct size in pigs
- (2013) Andreas Skyschally et al. NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY
- Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia
- (2013) Michael G. Kozoriz et al. NEUROPHARMACOLOGY
- A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
- (2013) Ying Hu et al. PLoS One
- Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?
- (2013) Marijke De Bock et al. Frontiers in Pharmacology
- The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice
- (2012) Michael K. G. Stewart et al. BIOCHEMICAL JOURNAL
- The role of connexins in ear and skin physiology — Functional insights from disease-associated mutations
- (2012) Ji Xu et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- The G60S Cx43 mutant enhances keratinocyte proliferation and differentiation
- (2012) Jared M. Churko et al. EXPERIMENTAL DERMATOLOGY
- A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits
- (2012) Natsumi Furuta et al. INTERNAL MEDICINE
- The N-Terminal Half of the Connexin Protein Contains the Core Elements of the Pore and Voltage Gates
- (2012) Jack Kronengold et al. JOURNAL OF MEMBRANE BIOLOGY
- Characterization of Gap Junction Proteins in the Bladder of Cx43 Mutant Mouse Models of Oculodentodigital Dysplasia
- (2012) R. Lorentz et al. JOURNAL OF MEMBRANE BIOLOGY
- Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia
- (2012) Qing Shao et al. MOLECULAR BIOLOGY OF THE CELL
- Oculodentodigital Dysplasia
- (2011) Luis A. Rassi Gabriel ARCHIVES OF OPHTHALMOLOGY
- Key functions for gap junctions in skin and hearing
- (2011) Claire A. Scott et al. BIOCHEMICAL JOURNAL
- Connexins in epidermal homeostasis and skin disease
- (2011) Claire A. Scott 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
- Connexin43 phosphorylation in brain, cardiac, endothelial and epithelial tissues
- (2011) Lucrecia Márquez-Rosado et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Connexin43 Mutation Causes Heterogeneous Gap Junction Loss and Sudden Infant Death
- (2011) David W. Van Norstrand et al. CIRCULATION
- Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects
- (2011) Jared M. Churko et al. HUMAN MUTATION
- The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
- (2011) Jared M. Churko et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes
- (2011) Sameh Wasseff et al. Neuron Glia Biology
- 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
- Milk Secretion and Ejection Are Impaired in the Mammary Gland of Mice Harboring a Cx43 Mutant While Expression and Localization of Tight and Adherens Junction Proteins Remain Unchanged1
- (2010) Isabelle Plante et al. BIOLOGY OF REPRODUCTION
- 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
- A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia
- (2010) A. Jamsheer et al. JOURNAL OF APPLIED GENETICS
- Connexin mutations in Brazilian patients with skin disorders with or without hearing loss
- (2009) Fabiana Alexandrino et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Connexin43 phosphorylation: structural changes and biological effects
- (2009) Joell L. Solan et al. BIOCHEMICAL JOURNAL
- Novel mutation p.Gly59Arg inGJB6encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss
- (2009) I. Nemoto-Hasebe et al. BRITISH JOURNAL OF DERMATOLOGY
- Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia
- (2009) D. Tong et al. Disease Models & Mechanisms
- Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
- (2009) M.J. Alao et al. European Journal of Medical Genetics
- Connexin-26 mutations in deafness and skin disease
- (2009) Jack R. Lee et al. EXPERT REVIEWS IN MOLECULAR MEDICINE
- Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice
- (2009) R. Dobrowolski et al. HUMAN MOLECULAR GENETICS
- GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
- (2009) William A. Paznekas et al. HUMAN MUTATION
- A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation
- (2009) Momoko Himi et al. JAPANESE JOURNAL OF OPHTHALMOLOGY
- Cx43 has distinct mobility within plasma-membrane domains, indicative of progressive formation of gap-junction plaques
- (2009) J. Simek et al. JOURNAL OF CELL SCIENCE
- Novel Mutations in GJA1 Cause Oculodentodigital syndrome
- (2009) A. Fenwick et al. JOURNAL OF DENTAL RESEARCH
- Gating on the outside: Figure 1.
- (2009) Andrew L. Harris JOURNAL OF GENERAL PHYSIOLOGY
- Structure of the connexin 26 gap junction channel at 3.5 Å resolution
- (2009) Shoji Maeda et al. NATURE
- The gap junction proteome and its relationship to disease
- (2009) Dale W. Laird TRENDS IN CELL BIOLOGY
- Gap Junctions
- (2009) D. A. Goodenough et al. Cold Spring Harbor Perspectives in Biology
- Connexin-Caused Genetic Diseases and Corresponding Mouse Models
- (2008) Radoslaw Dobrowolski et al. ANTIOXIDANTS & REDOX SIGNALING
- Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant
- (2008) Janet L. Manias et al. CARDIOVASCULAR RESEARCH
- Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia
- (2008) Isabelle Plante et al. DEVELOPMENTAL BIOLOGY
- 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
- Connexin43 Modulation of Osteoblast/Osteocyte Apoptosis: A Potential Therapeutic Target?
- (2008) Roberto Civitelli JOURNAL OF BONE AND MINERAL RESEARCH
- A Report ofGJB2(N14K) Connexin 26 Mutation in Two Patients-A New Subtype of KID Syndrome?
- (2008) Tamara Lazic et al. PEDIATRIC DERMATOLOGY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started