Genomes and Genes
Gene Symbol: GJB3
Description: gap junction protein beta 3
Alias: CX31, DFNA2, DFNA2B, EKV, gap junction beta-3 protein, connexin 31, gap junction protein, beta 3, 31kDa
Publications191 found, 100 shown here
- Gap junction disorders of myelinating cellsKleopas A Kleopa
Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Rev Neurosci 21:397-419. 2010..Cx29, and its human ortholog Cx31.3, appear to be restricted to oligodendrocytes that myelinate small caliber fibers, likely forming hemichannels...
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilisG Richard
Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 20:366-9. 1998..6 cM on 1p34-p35, and a candidate gene (GJA4) encoding the gap junction protein alpha-4 (connexin 31, Cx31) was excluded by sequence analysis...
- Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairmentJ H Xia
National Lab of Medical Genetics of China, Changsha, Hunan, PRC
Nat Genet 20:370-3. 1998..possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR...
- Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing lossX Z Liu
Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298 0033, USA
Hum Mol Genet 9:63-7. 2000Mutations in the GJB3 gene encoding connexin31 (Cx31) can cause a dominant non-syndromic form of hearing loss (DFNA2)...
- Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairmentN Lopez-Bigas
Medical and Molecular Genetics Center, Hospital Duran i Reynals, L Hospitalet, 08907 Barcelona, Catalonia, Spain
Hum Mol Genet 10:947-52. 2001Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis...
- A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinIrit Gottfried
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Hum Mol Genet 11:1311-6. 2002..disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the form of dominant inheritance have been described in this gene ..
- Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing lossRita Teek
Department of Oto Rhino Laryngology, University of Tartu, Tartu, Estonia
Int J Pediatr Otorhinolaryngol 73:103-7. 2009..The aim of our study was to identify the IVS2-2A>G sequence change in the SLC26A5 (Prestin) gene in Estonian individuals with hearing loss and in their family members...
- Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Xue Zhong Liu
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 125:53-62. 2009Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness...
- EKV mutant connexin 31 associated cell death is mediated by ER stressDaniel Tattersall
Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Hum Mol Genet 18:4734-45. 2009..Distinct dominantly inherited mutations in Cx31 cause the skin disease erythrokeratoderma variabilis (EKV) and hearing loss with or without neuropathy...
- Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilisA Wilgoss
Centre for Cutaneous Research, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK
J Invest Dermatol 113:1119-22. 1999We report a missense mutation in the gap junction protein beta-3 (encoding Connexin 31), which was detected in only the affected members of a family in which the autosomal dominant skin disease erythrokeratoderma variabilis was ..
- Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutationsWei Li Di
Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 2AT, UK
Hum Mol Genet 11:2005-14. 2002Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy...
- Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cellsSimone Diestel
Department of Biochemistry, Institute of Animal Anatomy and Physiology, University of Bonn, 53115 Bonn, Germany
Biochem Biophys Res Commun 296:721-8. 2002The autosomal dominant skin disorder erythrokeratodermia variabilis (EKV) has been linked to mutations in the human connexin31 (hCx31) gene, which is expressed in the epidermis...
- Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cellsLi Qiang He
National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
Acta Biochim Biophys Sin (Shanghai) 37:547-54. 2005Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown...
- Clinical and genetic heterogeneity of erythrokeratoderma variabilisJohn E A Common
Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK
J Invest Dermatol 125:920-7. 2005The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively...
- The expression of multiple connexins throughout spermatogenesis in the rainbow trout testis suggests a role for complex intercellular communicationBenjamin de Montgolfier
INRS Institut Armand Frappier, Universite du Quebec, Pointe Claire, Quebec, Canada H9R 1G6
Biol Reprod 76:2-8. 2007..Amplicons were cloned and sequenced. Homology comparisons indicate that these were cx43, cx43.4, cx31, and cx30. Immunolocalization of these Cxs indicate that Cx43 was localized primarily to Sertoli cells, while Cx43...
- Multiple members of the connexin gene family participate in preimplantation development of the mouseT C Davies
Department of Zoology, University of Western Ontario, London, Canada
Dev Genet 18:234-43. 1996..They can be divided into two groups with respect to the timing of mRNA accumulation: Cx31, Cx43, and Cx45 mRNAs accumulate continuously from the two- or four-cell stage, whereas Cx30.3, Cx31...
- The detection of hamster connexins: a comparison of expression profiles with wild-type mouse and the cancer-prone Min mouseVéronique Cruciani
Department of Environmental and Occupational Cancer, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo, Norway
Cell Commun Adhes 11:155-71. 2004..from Syrian hamster (using tissues) and 16 connexins from the Chinese hamster cell line V79, were fully (Cx30, Cx31, Cx37, Cx43 and Cx45) or partially sequenced...
- Influence of municipal effluents on the expression of connexins in the brook trout (Salvelinus fontinalis) testisBenjamin de Montgolfier
INRS Institut Armand Frappier, Universite du Quebec, Pointe Claire, QC, Canada
Aquat Toxicol 86:38-48. 2008..At this time, testicular cx43 and cx31 mRNA levels increased in the 1% group, but cx30 and cx43.4 levels were not different at any concentration...
- Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing lossKirk W Beisel
Department of Biomedical Sciences, Creighton University, Omaha, Nebraska 68178, USA
J Neurosci 25:9285-93. 2005Human KCNQ4 mutations known as DFNA2 cause non-syndromic, autosomal-dominant, progressive high-frequency hearing loss in which the cellular and molecular basis is unclear...
- Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in TaiwanJiann jou Yang
Genetics Laboratory and Department of BioMedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
Audiol Neurootol 12:198-208. 2007..These genes included Cx26 (GJB2), Cx29 (GJE1), Cx30 (GJB6), Cx30.3 (GJB4), Cx31 (GJB3), Cx32 (GJB1), Cx43 (GJA1) and pseudogene [rho] of Cx43 (rho GJA1)...
- Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analysesAn Ping Xia
Department of Otorhinolaryngology Head and Neck Surgery, Tohoku University Graduate School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
Hear Res 166:150-8. 2002..A significant reduction in the immunoreactivity of connexin 26 (Cx26), connexin 31 (Cx31), Na,K-ATPase and Na-K-Cl cotransporter in the spiral ligament fibrocytes was observed in aged ..
- Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2K W Beisel
Department of Genetics, Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68178, USA
Brain Res Mol Brain Res 82:137-49. 2000..Cell 96 (1999) 437-446] to cause a non-syndromic, autosomal dominant, progressive hearing loss, DFNA2. The mouse Kcnq4 orthologue was previously localized to the outer hair cells (OHCs) of the inner ear, suggesting ..
- A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairmentMartijn H Kemperman
Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands
Arch Otolaryngol Head Neck Surg 130:281-8. 2004..To perform linkage analysis and to outline hearing loss characteristics in a family exhibiting a nonsyndromic, autosomal dominant type of progressive sensorineural hearing loss...
- Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinateA P Lavrijsen
Department of Dermatology, University Hospital Leiden, The Netherlands
Br J Dermatol 129:547-53. 1993..ichthyosis [CI] [n = 10], dyskeratosis follicularis [Darier's disease; DD] [n = 8], erythrokeratoderma variabilis [EKV] [n = 8]), and 21 healthy volunteers, using two non-invasive methods: transepidermal water loss (TEWL) measuring ..
- Expression patterns of connexin 29 (GJE1) in mouse and rat cochleaJiann jou Yang
Genetics Laboratory and Department of BioMedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
Biochem Biophys Res Commun 338:723-8. 2005Multiple types of connexin (Cxs) products, including Cx26, Cx30, Cx31, and Cx43, are found by immunolabeling in the mature cochlea...
- Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skinA Butterweck
Abt Molekulargenetik der Universität, Bonn Germany
Eur J Cell Biol 65:152-63. 1994..For this purpose, polyclonal antibodies to Cx31 and Cx45 were raised by immunizing rabbits with fusion proteins of glutathione S-transferase and carboxy-terminal ..
- Changes of gap and tight junctions during differentiation of human nasal epithelial cells using primary human nasal epithelial cells and primary human nasal fibroblast cells in a noncontact coculture systemJun ichi Koizumi
Department of Otolaryngology, Sapporo Medical University School of Medicine, S1 W17, Sapporo, Japan
J Membr Biol 218:1-7. 2007..In the coculture, downregulation of Cx26 and upregulation of Cx30.3 and Cx31 were observed together with extensive gap junctional intercellular communication...
- Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafnessTatjana Kharkovets
Zentrum für Molekulare Neurobiologie, ZMNH, Universitat Hamburg, Hamburg, Germany
EMBO J 25:642-52. 2006..KCNQ4 mutations underlie human DFNA2 dominant progressive hearing loss...
- Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing lossZ Talebizadeh
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska
Hum Mutat 14:493-501. 1999..of a five-generation American family with nonsyndromic dominant progressive hearing loss indicated linkage to the DFNA2 locus on chromosome 1p34. This kindred consists of 170 individuals, of which 51 are affected...
- Running over rough terrain: guinea fowl maintain dynamic stability despite a large unexpected change in substrate heightMonica A Daley
Concord Field Station, MCZ, Harvard University, Old Causeway Road, Bedford, MA 01730, USA
J Exp Biol 209:171-87. 2006..to the unexpected perturbation fell into three general categories: (1) conversion of vertical energy (EV=EP+EKv) to horizontal kinetic energy (EKh), (2) absorption of EV through negative muscular work (-DeltaEcom), or (3) ..
- Expression of the mouse gap junction gene Gjb3 is regulated by distinct mechanisms in embryonic stem cells and keratinocytesAchim Plum
Institut fur Genetik, Romerstrasse 164, D 53117 Bonn, Germany
Genomics 79:24-30. 2002..Connexin31 (Cx31) is encoded by the gene Gjb3 and expressed throughout mouse development n a complex pattern; in adult mice it becomes restricted to the granular ..
- Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mappingJ A Haefliger
Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, Massachusetts 02115
J Biol Chem 267:2057-64. 1992..of their predicted molecular mass, these proteins have been designated connexin (Cx) 40 (Cx40), Cx37, Cx33, and Cx31.1...
- Expression pattern of different gap junction connexins is related to embryo implantationR Grummer
Institute of Anatomy, University of Essen, Germany
Int J Dev Biol 40:361-7. 1996..In this phase, the invasive partner, the blastocyst, is characterized by coexpression of cx43 and cx31. During trophoblast invasion however, cx31 becomes restricted to the cells of the invasive ectoplacental cone, cx43 ..
- Prolonged dark adaptation changes connexin expression in the mouse retinaAlexandre Hiroaki Kihara
Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil
J Neurosci Res 83:1331-41. 2006..In the present study, we first determined whether gene expression of specific Cx (Cx26, Cx31.1, Cx36, Cx37, Cx40, Cx43, Cx45, Cx50, and Cx57) was affected by prolonged dark adaptation...
- Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapyBradley W Kesser
University of Virginia Department of Otolaryngology Head and Neck Surgery, Charlottesville, Virginia 22908, USA
Laryngoscope 118:821-31. 2008..relevant gene, wild-type KCNQ4, a potassium channel gene that when mutated causes the autosomal dominant HL DFNA2.Here, we review the current state of viral-mediated gene transfer in the inner ear and discuss different viral ..
- Connexin31.1 deficiency in the mouse impairs object memory and modulates open-field exploration, acetylcholine esterase levels in the striatum, and cAMP response element-binding protein levels in the striatum and piriform cortexE Dere
Institute of Physiological Psychology, Center for Biological and Medical Research, University of Dusseldorf, Universitatsstrasse 1, Dusseldorf, Germany
Neuroscience 153:396-405. 2008..In connexin31.1 (Cx31.1) knockout (KO) mice the coding region of the Cx31.1 gene was replaced by a LacZ reporter gene...
- Antisense down regulation of connexin31.1 reduces apoptosis and increases thickness of human and animal corneal epitheliaC Y Chang
Department of Ophthalmology, The University of Auckland, New Zealand
Cell Biol Int 33:376-85. 2009The roles of the gap junction protein connexin31.1 (Cx31.1) are poorly understood, especially as the protein appears to form non-functional channels. Cx31...
- A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment familiesNuria Lopez-Bigas
Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
Hum Mutat 19:458. 2002Mutations in GJB1, GJB2, GJB3 and GJB6 are involved in hearing impairment. GJB2, GJB3 and GJB6 are also mutated in patients with hyperproliferative skin disorders...
- Cells heterozygous for the ApcMin mutation have decreased gap junctional intercellular communication and connexin43 level, and reduced microtubule polymerizationTrine Husøy
Department of Food Toxicology, Norwegian Institute of Public Health, PO Box 4404 Nydalen, NO 0403 Oslo, Norway
Carcinogenesis 24:643-50. 2003..RT-PCR showed that both YAMC and IMCE cells express a common complement of seven connexin genes (Cx26, Cx31, Cx39, Cx40, Cx43, Cx45 and Cx50), with an additional Cx29 gene expression in YAMC cells...
- An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22Thomas G Saba
McGill University and Genome Quebec Innovation Centre, Montreal, QC, H3A 1A4, Canada
Hum Genet 116:167-71. 2005..Mutations in connexin 31 (GJB3) and connexin 30...
- Further delineation of the hypotrichosis-deafness syndromeMaurice A M van Steensel
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Eur J Dermatol 15:437-8. 2005..gap junction disorders and we propose that some cases of erythrokeratodermia variabilis without mutations in either GJB3 or GJB4 but with deafness may be caused by mutations in GJB2...
- A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expressionAngeles Mencia
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain
Hum Genet 123:41-53. 2008Mutations in the potassium channel gene KCNQ4 underlie DFNA2, a subtype of autosomal dominant progressive, high-frequency hearing loss. Based on a phenotype-guided mutational screening we have identified a novel mutation c...
- Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing lossI Nemoto-Hasebe
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo, Japan
Br J Dermatol 161:452-5. 2009..Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30...
- Green tea prevents down-regulation of gap junction intercellular communication in human keratinocytes treated with PMAYun Hoon Choung
Department of Otolaryngology, Ajou University School of Medicine, San 5, Wonchon dong, Yeongtong Gu, Suwon 443 721, Republic of Korea
Eur Arch Otorhinolaryngol 268:885-92. 2011..HaCaT cells were found to express Cx26, Cx30, Cx31, and Cx43, but not Cx29...
- Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutantsKun Xia
State Key Laboratory of Medical Genetics, Central South University, Changsha 410083, China
Protein Cell 1:935-43. 2010..The study reveals a potential pathological mechanism of HI-associated C×31 mutations...
- Molecular genetics study of deafness in Brazil: 8-year experienceCamila Andréa de Oliveira
Centro de Biologia Molecular e Engenharia Genética CBMEG, Laboratorio de Genetica Humana, Universidade Estadual de Campinas UNICAMP, Campinas, Sao Paulo, Brazil
Am J Med Genet A 143:1574-9. 2007..In this study, we present our findings from the molecular diagnostic screening of the GJB2 and GJB3 genes, del(GJB6-D13S1,830) and del(GJB6-D13S1,854) deletions in the GJB6 gene, Q829X mutation in the otoferlin gene ..
- Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: molecular cloning of mouse connexin31 and -45 cDNAsH Hennemann
Institut für Genetik Abt Molekulargenetik der Universität, Bonn Deutschland
Eur J Cell Biol 57:51-8. 1992..b>Cx31 and Cx45 are coded for by single genes in the mouse genome...
- Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell linesS W Lee
Dana Farber Cancer Institute, Boston, Massachusetts 02115
J Cell Biol 118:1213-21. 1992..Connexin genes Cx31.1, Cx32, Cx33, Cx37, and Cx40 are not expressed in either normal cells or the tumor lines examined...
- KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathwayT Kharkovets
Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Martinistrasse 85, D 20246 Hamburg, Germany
Proc Natl Acad Sci U S A 97:4333-8. 2000Mutations in the potassium channel gene KCNQ4 underlie DFNA2, an autosomal dominant form of progressive hearing loss in humans. In the mouse cochlea, the transcript has been found exclusively in the outer hair cells...
- Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single familyD P Kelsell
Centre for Cutaneous Research, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
Eur J Hum Genet 8:469-72. 2000Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders...
- Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore regionP Van Hauwe
Department of Medical Genetics, University of Antwerp, Belgium
Am J Med Genet 93:184-7. 2000The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4...
- Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypesJ Balciuniene
Unit of Medical Genetics, Department of Genetics and Pathology, Uppsala University, Sweden
Hum Genet 105:211-6. 1999..dominant NSHI with possible digenic inheritance of the disease, involving locus DFNA12 in chromosome 11 and locus DFNA2 in chromosome 1...
- Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 familyEls M R De Leenheer
Department of Otorhinolaryngology, University Medical Center St Radboud Nijmegen, The Netherlands
Ann Otol Rhinol Laryngol 111:267-74. 2002..thresholds, speech recognition scores, and vestibular responses in 32 affected persons in a large family with DFNA2/KCNQ4-related hearing impairment caused by a W276S missense mutation...
- Segment-specific expression of connexin31 in the embryonic hindbrain is regulated by Krox20Stefan Jungbluth
Neurobiologie Genetique et Integrative, Institut de Neurobiologie Alfred Fessard, CNRS, Gif sur Yvette, France
Dev Dyn 223:544-51. 2002..1997) expression of one particular connexin gene, connexin31 (Cx31), in the mouse embryonic hindbrain and compared it with that of Cx43 and Cx36...
- Multiple connexins contribute to intercellular communication in the Xenopus embryoYosef Landesman
Department of Neurobiology, Harvard Medical School, 220 Longwood Avenue, Boston, MA 02115, USA
J Cell Sci 116:29-38. 2003..Analysis of embryonic cDNA revealed maternal expression of two novel connexins, Cx31 and Cx43.4, and a third, Cx43, that had been previously identified as a product of zygotic transcription...
- Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndromeR M Pujol
Pathology, Hospital del Mar, IMAS, Passeig Maritim 25 29, 08003 Barcelona, Spain
Br J Dermatol 153:838-41. 2005..skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes...
- The vertebrate connexin familyV Cruciani
The Norwegian Radium Hospital, Institute for Cancer Research, 0310, Oslo, Norway
Cell Mol Life Sci 63:1125-40. 2006..3 and 31.1 from a preCx30.3/ 31.1 sequence, and Cx31.3 from an uncertain origin)...
- Blockage of testicular connexins induced apoptosis in rat seminiferous epitheliumNikki P Y Lee
Departments of Surgery, The University of Hong Kong, L9 52 Faculty of Medicine Building, 21 Sassoon Road, Pokfulam, Hong Kong
Apoptosis 11:1215-29. 2006..connexins during spermatogenesis, we utilized the small peptide antagonistic approach to specifically deplete connexin 31, connexin 33, and pan-connexin...
- Implication of gap junction coupling in amphibian vitellogenin uptakeM E Monaco
Departamento de Biologia del Desarrollo, Instituto Superior de Investigaciones Biológicas y Universidad Nacional de Tucumán, Tucuman, Argentina
Zygote 15:149-57. 2007..No expression changes were detected for Cx31 and Cx38 during vitellogenesis...
- Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screeningCai xia Li
Medical Systems Biology Research Center, School of Medicine, Tsinghua University, Beijing, China
Hum Mutat 29:306-14. 2008..platform was validated by accurately analyzing 141 patient samples that had been previously genotyped for GJB2, GJB3, SLC26A4, and MTRNR1...
- A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilisR Renner
J Eur Acad Dermatol Venereol 22:750-1. 2008
- KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing lossLiping Nie
Center for Neuroscience and Department of Otolaryngology Head and Neck Surgery, University of California Davis, Davis, California 95618, USA
Curr Opin Otolaryngol Head Neck Surg 16:441-4. 2008This article provides an update on the current progress in identification of KCNQ4 mutations responsible for DFNA2, a subtype of autosomal dominant nonsyndromic progressive hearing loss.
- Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction systemMaria M Kreuzberg
Institute of Genetics, University of Bonn, Bonn, Germany
J Mol Cell Cardiol 46:553-9. 2009..However, whether the human ortholog of Cx30.2, Cx31.9, is expressed in the human heart has not previously been investigated. We therefore generated Cx31...
- 5-AZA-2'-deoxycytidine (5-AZA-CdR) leads to down-regulation of Dnmt1o and gene expression in preimplantation mouse embryosJian Ning Yu
College of Animal Science and Technology, Nanjing Agricultural University, Nanjing, Jiangsu, P R China
Zygote 17:137-45. 2009..Gene expression changes were also detected in this research. Our data indicated that connexin 31 (Cx31), connexin 43 (Cx43), connexin 45 (Cx45), E-cadherin (Cdh1) and beta-catenin (Ctnnb1) were all ..
- The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of GottronM A M van Steensel
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
Am J Med Genet A 149:657-61. 2009..erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking...
- Seasonal variations in testicular connexin levels and their regulation in the brook trout, Salvelinus fontinalisBenjamin de Montgolfier
INRS Institut Armand Frappier, Universite du Quebec, 531 Boul des Prairies, Laval, Que, Canada H7V 1B7
Gen Comp Endocrinol 162:276-85. 2009..Cx43 and Cx30 levels were constant during spermatogenesis and decreased in November. Cx31 levels were also constant during spermatogenesis but decreased dramatically in October and November. Cx43...
- Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermiaS Wei
Department of Dermatology, Zhujiang Hospital, Nanfang Medical University, Guangzhou, China
Clin Exp Dermatol 36:399-405. 2011..The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4...
- Key functions for gap junctions in skin and hearingClaire A Scott
Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
Biochem J 438:245-54. 2011..In the present review we discuss mutations in β-Cx genes encoding Cx26, Cx30, Cx30.3 and Cx31 which lead to skin disease and deafness...
- Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of ChinaYajie Lu
Department of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China
J Biomed Res 25:309-18. 2011..of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNA(Ser(UCN)) by PCR amplification and direct DNA ..
- Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing lossGendong Yao
Department of Laboratory Medicine, Central Hospital of Handan City, Hebei, China
Acta Otolaryngol 133:833-41. 2013..Most of these novel mutations were predicted pathogenic variants...
- Diagnostic application of targeted resequencing for familial nonsyndromic hearing lossByung Yoon Choi
Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, Korea
PLoS ONE 8:e68692. 2013..mutations discovered by the targeted resequencing were distributed in nine genes such as WFS1, COCH, EYA4, MYO6, GJB3, COL11A2, OTOF, STRC and MYO3A, most of which were private...
- Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermiaMaxime Cadieux-Dion
Centre de recherche du Centre Hospitalier de l Universite de Montreal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada
JAMA Neurol 71:470-5. 2014..In 1972, a French-Canadian family segregating a combination of SCA and erythrokeratodermia variabilis (EKV) in an autosomal dominant fashion was described.
- Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing lossTung Cheng Li
a Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan
Biochem Cell Biol 92:251-7. 2014..In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss...
- Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing lossChristopher Beck
Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Franz Josef Straus Allee 11, 93053, Regensburg, Germany
Eur Arch Otorhinolaryngol 272:2765-76. 2015..individuals with hearing loss a three-step mutation screening program consisting of GJB2 in first line, then GJB1, GJB3 and GJB6 (second step) and if tested negative or heterozygote, testing of GJA1, GJB4, SLC26A4 and PJVK (third) was ..
- Study on connexin gene and protein expression and cellular distribution in relation to real-time proliferation of porcine granulosa cellsB Kempisty
Department of Histology and Embryology, Poznan University of Medical Sciences, Poznan, Poland
J Biol Regul Homeost Agents 28:625-35. 2014..Cx40 and Cx43 mRNA were measured by RQ-PCR analysis, and differences in the expression and distribution of Cx30, Cx31, Cx37, Cx43 and Cx45 proteins were analyzed by confocal microscopic visualization...
- Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosisJie Zhang
Department of Dermatology, Qilu Hospital of Shandong University Qingdao, Qingdao 266035, China Department of Dermatology, Peking University First Hospital, Beijing 100034, China Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China
Gene 566:84-8. 2015..No pathogenic mutations in GJB2, GJB3 and GJB6 genes were found in the siblings. By analysis of exome of the proband, we identified a novel missense (p...
- Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10A Abdul-Wahab
St John s Institute of Dermatology, King s College London Guy s Campus, London, UK
Clin Exp Dermatol 41:290-3. 2016..No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family...
- Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate CochleaMakoto Hosoya
Keio University School of Medicine, Department of Otorhinolaryngology, Head and Neck Surgery, 35 Shinanomachi Shinjyuku ku Tokyo, 160 8582, Japan
Sci Rep 6:22250. 2016..We examined 20 genes whose expression in the cochlea has already been reported. The deafness genes GJB3, CRYM, GRHL2, DFNA5, and ATP6B1 were expressed in marmoset cochleae in patterns different from those in mouse ..
- Erythrokeratodermia variabilis et progressivaAkemi Ishida-Yamamoto
Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan
J Dermatol 43:280-5. 2016..EKVP is most often transmitted in an autosomal dominant manner. Causal mutations were found in the GJB3, GJB4 and GJA1 genes encoding connexins 31, 30.3 and 43, respectively...
- Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31J H Hoh
Division of Biology 156 29, California Institute of Technology, Pasadena 91125
J Biol Chem 266:6524-31. 1991A new member of the connexin gene family has been identified and designated rat connexin-31 (Cx31) based on its predicted molecular mass of 30,960 daltons. Cx31 is 270 amino acids long and is coded for by a single copy gene...
- Erythrokeratodermia variabilis present at birth: case report and review of the literatureJ D Hendrix
Department of Dermatology, University of Virginia School of Medicine, Charlottesville 22908, USA
Pediatr Dermatol 12:351-4. 1995A healthy boy had the distinctive lesions of erythrokeratodermia variabilis (EKV) at birth. Twenty-eight patients described in the literature had EKV that presented in childhood...
- A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 regionR J Ensink
Department of Otorhinolaryngology and Head Neck Surgery, University Hospital, Nijmegen, The Netherlands
Eur Arch Otorhinolaryngol 257:62-7. 2000We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis...
- Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafnessX Z Liu
Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA 23298 0033, USA
Hum Mol Genet 10:2945-51. 2001..gene family have been shown to underlie distinct genetic forms of deafness, including GJB2 [connexin 26 (Cx26)], GJB3 (Cx31), GJB6 (Cx30) and GJB1 (Cx32)...
- K+ cycling and the endocochlear potentialPhiline Wangemann
Cell Physiology Laboratory, Anatomy and Physiology Department, Kansas State University, 1600 Denison Avenue, Manhattan 66506, USA
Hear Res 165:1-9. 2002..Gap junctions may include GJB2, GJB3 and GJB6...
- K(+) cycling and its regulation in the cochlea and the vestibular labyrinthPhiline Wangemann
Cell Physiology Laboratory, Anatomy and Physiology Department, Kansas State University, Manhattan, Kans 66506, USA
Audiol Neurootol 7:199-205. 2002..of KCNQ4, a K(+) channel in the sensory hair cells, as well as from mutations of the gap junction proteins GJB2, GJB3 and GJB6 that may facilitate cell-to-cell movements of K(+)...
- Virtual cloning, functional expression, and gating analysis of human connexin31.9Thomas W White
Department of Physiology and Biophysics, State University of New York, Stony Brook 11794 8661, USA
Am J Physiol Cell Physiol 283:C960-70. 2002..9 (Cx31.9). Cx31.9 was most homologous to human Cx32...
- DFNA2/KCNQ4 and its manifestationsEls M R De Leenheer
Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
Adv Otorhinolaryngol 61:41-6. 2002
- Acitretin for erythrokeratodermia variabilis in a 9-year-old girlRobin A C Graham-Brown
Department of Dermatology, Leicester Royal Infirmary, Leicester, United Kingdom
Pediatr Dermatol 19:510-2. 2002Erythrokeratodermia variabilis (EKV) is a rare genodermatosis with a unique phenotype. Treatment with oral synthetic retinoids is well documented in adults, but not in children...
- Audiologic evidence for further genetic heterogeneity at DFNA2Ryan E Stern
Laboratory of Molecular Otology, Epstein Laboratories and Division of Otology, Neurotology and Skull Base Surgery, Department of Otolaryngology Head and Neck Surgery, University of California, San Francisco, California 94143 0526, USA
Acta Otolaryngol 122:730-5. 2002A large American family has been mapped to the DFNA2 locus. However, mutation screening of CX31 and KCNQ4, the two genes associated with deafness at this locus, did not identify any mutations...
- Bovine embryo culture in the presence or absence of serum: implications for blastocyst development, cryotolerance, and messenger RNA expressionD Rizos
Department of Animal Science and Production, University College Dublin, Lyons Research Farm, Newcastle, County Dublin, Ireland
Biol Reprod 68:236-43. 2003..genes related to apoptosis (Bax), oxidative stress (MnSOD, CuZnSOD, and SOX), communication through gap junctions (Cx31 and Cx43), maternal recognition of pregnancy (IFN-tau), and differentiation and implantation (LIF and LR-beta)...
- Resting potential and submembrane calcium concentration of inner hair cells in the isolated mouse cochlea are set by KCNQ-type potassium channelsDominik Oliver
Physiologisches Institut der Universität Freiburg, 79104 Freiburg, Germany
J Neurosci 23:2141-9. 2003..Destabilization of the resting potential and increase in [Ca2+]i, as may result from impaired KCNQ4 function in IHCs, provide a novel explanation for the progressive hearing loss (DFNA2) observed in patients with defective KCNQ4 genes.
- Differences in expression patterns between mouse connexin-30.2 (Cx30.2) and its putative human orthologue, connexin-31.9Peter A Nielsen
Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
FEBS Lett 540:151-6. 2003..2 (Cx30.2) contains 278 amino acid residues, and is 79% identical to human Cx31.9 (GJA11). Northern analysis showed that Cx30.2 is ubiquitously expressed, most prominently in testis...
- Characterization of connexin 30.3 and 43 in thymocytesPaula Candida Fonseca
Laboratório de Pesquisas sobre o Timo, Departamento de Imunologia, Instituto Oswaldo Cruz, Fundacao Oswaldo Cruz, Brasil, Av Brasil, 4365 Manguinhos, 21045 900, Rio de Janeiro, RJ, Brazil
Immunol Lett 94:65-75. 2004..3 and Cx43, but not for Cx26, Cx30, Cx31, Cx31.1, Cx32, Cx33, Cx36, Cx37, Cx40, Cx45, Cx46, and Cx50. In addition, the presence of Cx30...
- Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutationsMartina Broghammer
Division of Molecular Genetics, Institute of Anthropology and Human Genetics, University of Tubingen, Wilhelmstr 27, 72074 Tubingen, Germany
Cancer Lett 214:225-9. 2004..Lack of GJB5 mutations in the entire tumour collection suggests that this gene is not primarily involved in laryngeal tumorigenesis...
- Species-related differences in blastocyst quality are associated with differences in relative mRNA transcriptionDimitrios Rizos
Department of Animal Science and Centre for Integrative Biology, Conway Institute for Biomolecular and Biomedical Research, University College Dublin, Belfield, Dublin 4, Ireland
Mol Reprod Dev 69:381-6. 2004..05), while transcripts for Connexin 31 (Cx31), interferon tau (IFN-tau), and sarcosine oxidase (SOX) were significantly more abundant in bovine ..
- [Study of the relation between Cx31 gene and hereditary hearing impairment]Wei Hua Gao
Department of Otorhinolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China
Zhonghua Er Bi Yan Hou Ke Za Zhi 39:344-8. 2004To study the relation between hereditary nonsyndromic hearing impairment (NSHI) in Chinese and mutation in Connexin 31 (Cx31) gene and to explore the pathogenic mechanism.
- [Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling]E Kunstmann
Humangenetik der Ruhr Universität Bochum, Bochum
HNO 53:773-8. 2005..Research on the genetics of deafness has revealed a vast number of relevant genes. Mutations in the GJB2 gene have been shown to be the most common in several populations...
- Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing lossS T Arican
Genet Couns 16:309-11. 2005
- Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiationAmy C Maher
Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario, Canada
Cell Commun Adhes 12:219-30. 2005..RT-PCR revealed that REK cells express mRNA for Cx26, Cx31, Cx31.1, Cx37, and Cx43, which mimics the reported connexin profile for rat tissue...
- [Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?]R Birkenhäger
Universitätsklinik für Hals, Nasen und Ohrenheilkunde und Poliklinik, Forschungsgruppe Genetische Erkrankungen des Kopf Hals Bereiches, Universitatsklinikum Freiburg
Laryngorhinootologie 85:191-6. 2006..The genes GJB2 (Connexin 26), GJB3 (connexin 31) and GJB6 (connexin 31) are located on chromosome 13q11-12...
- The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV)Marc Schnichels
Institut fur Genetik, Abteilung Molekulargenetik, Universitat Bonn, Bonn 53117, Germany
Hum Mol Genet 16:1216-24. 2007..So far, several mutations in the Cx31 or Cx30.3 gene have been reported to cause EKV in humans...
- Internalization of gap junctions as a regulatory mechanism of direct GJICMatthias M Falk; Fiscal Year: 2013..Human mutations in several Cxs (including Cx26, Cx30, Cx30.3, Cx31, Cx32, Cx43, Cx46, and Cx50) are implicated in a number of diseases including neuropathies, deafness, cataracts, ..
- GAP JUNCTIONS AND IONIC CURRENTS IN DEVELOPING HEARTJenny J Yang; Fiscal Year: 2013..mammalian connexin genes, only four connexins, connexin40 (Cx40), connexin43 (Cx43), connexin45 (Cx45), and connexin 31.9 (Cx31.9), are expressed in the heart...
- Functions and Disorders of K Channels in the Ineer EarTsung Yu Chen; Fiscal Year: 2012..Lang Nielson syndrome (JLNS), and an autosomal dominant form of nonsyndromic progressive hearing loss (PHL: DFNA2)...
- New APEX diagnostic for hereditary sensorineural hearing lossPhyllis Gardner; Fiscal Year: 2006..It is an inexpensive microarray, capable of simultaneous evaluation of multiple mutations in 8 genes (GJB2, GJB6, GJB3, GJA1, SCL26A4, SCL26A5 and the mitochondria! genes 12S rRNA and tRNA Ser)...
- Gene Transfer to the Inner EarAnne Luebke; Fiscal Year: 2003..KCNQ4 mutations are found in the human autosomal dominant non-syndromic deafness disorder, DFNA2, and families with this mutation exhibit a significant hearing loss...
- Newborn Screening for Hearing ImpairmentEdwin Naylor; Fiscal Year: 2003..The following mutations in connexin 26, Pendrin, and connexin 31 genes serve as model systems for hereditary hearing loss: (1) connexin 26 35 del G, 167 del T, ...
- CONNEXIN MUTATIONS IN HUMAN SKIN DISEASEThomas White; Fiscal Year: 2001..e. Vohwinkel's syndrome). In a similar fashion, mutations in Cx31 (GJB3) can cause either hearing loss, or EKV...
- CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROMEGabriele Richard; Fiscal Year: 2002....
- CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATIONGabriele Richard; Fiscal Year: 2004..of erythrokeratodermia variabilis (EKV) that recently resulted in the cloning of two novel human connexin genes, GJB3 and GJB5, and the disclosure of mutations in GJB3 as proximal cause of EKV...
- SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESSXue Liu; Fiscal Year: 2002..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..
- Pathogenesis of Disease-Associated Connexin-31 MutationsZhuohua Zhang; Fiscal Year: 2008..Little is known about the molecular basis for the distinct pathogenic processes associated with Cx31 mutants. In preliminary study, we have shown the expression of Cx31 in adult organ of corti...
- CYTOSOLIC REGULATION OF INNER EAR ION TRANSPORTA PHILINE WANGEMANN; Fiscal Year: 2007..first, middle) The name of the principal investigator/program director must be provided at the top of each printed page and each continuation page RESEARCH GRANT TABLE OF CONTENTS Page Numbers Face Page 1 Description, ..
- Gap Junction Channels Formation and GatingFeliksas Bukauskas; Fiscal Year: 2007..Abnormalities in GJ channels play a key role in generating cardiac arrhythmias, uterine malfunction, epileptic seizures and malignant cell growth. ..
- Ion Channel Function in Auditory & Vestibular hair cellsJeffrey Holt; Fiscal Year: 2008..Because deficiencies with these critical functions cause deafness and balance disorders, the information gained through these studies will facilitate design of rational strategies to treat genetic inner disorders. ..
- Connexins and Heart FunctionFeliksas Bukauskas; Fiscal Year: 2010..2 hemichannels are functional in cardiomyocytes and whether they contribute to slow propagation of excitation in the AV node and protection of ventricles from over excitation during atrial tachyarrhythmia. ..
- MOLECULAR DISSECTION OF THE ORGAN OF CORTIKirk Beisel; Fiscal Year: 2006..Extrapolation of the expression profiles may provide insights into the functional characteristics and status of each of these cell types in normal and pathogenic states of the OC. ..
- MOLECULAR DELINEATION OF THE COCHLEAR HAIR CELLSKirk Beisel; Fiscal Year: 2002....