GJB3

Summary

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
Species: human

Top Publications

  1. ncbi Gap junction disorders of myelinating cells
    Kleopas A Kleopa
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Rev Neurosci 21:397-419. 2010
  2. ncbi Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
    G 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
  3. ncbi Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
    J H Xia
    National Lab of Medical Genetics of China, Changsha, Hunan, PRC
    Nat Genet 20:370-3. 1998
  4. ncbi Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
    X Z Liu
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298 0033, USA
    Hum Mol Genet 9:63-7. 2000
  5. ncbi Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
    N Lopez-Bigas
    Medical and Molecular Genetics Center, Hospital Duran i Reynals, L Hospitalet, 08907 Barcelona, Catalonia, Spain
    Hum Mol Genet 10:947-52. 2001
  6. ncbi A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
    Irit 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
  7. doi Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss
    Rita Teek
    Department of Oto Rhino Laryngology, University of Tartu, Tartu, Estonia
    Int J Pediatr Otorhinolaryngol 73:103-7. 2009
  8. pmc Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
    Xue Zhong Liu
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 125:53-62. 2009
  9. pmc EKV mutant connexin 31 associated cell death is mediated by ER stress
    Daniel 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
  10. ncbi Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
    A 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. 1999

Detail Information

Publications191 found, 100 shown here

  1. ncbi Gap junction disorders of myelinating cells
    Kleopas 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...
  2. ncbi Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
    G 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...
  3. ncbi Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
    J 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...
  4. ncbi Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
    X Z Liu
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond 23298 0033, USA
    Hum Mol Genet 9:63-7. 2000
    Mutations in the GJB3 gene encoding connexin31 (Cx31) can cause a dominant non-syndromic form of hearing loss (DFNA2)...
  5. ncbi Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
    N Lopez-Bigas
    Medical and Molecular Genetics Center, Hospital Duran i Reynals, L Hospitalet, 08907 Barcelona, Catalonia, Spain
    Hum Mol Genet 10:947-52. 2001
    Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis...
  6. ncbi A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
    Irit 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 ..
  7. doi Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss
    Rita 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...
  8. pmc Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31
    Xue Zhong Liu
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 125:53-62. 2009
    Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness...
  9. pmc EKV mutant connexin 31 associated cell death is mediated by ER stress
    Daniel 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...
  10. ncbi Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
    A 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. 1999
    We 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 ..
  11. ncbi Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations
    Wei 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. 2002
    Distinct 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...
  12. ncbi Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
    Simone Diestel
    Department of Biochemistry, Institute of Animal Anatomy and Physiology, University of Bonn, 53115 Bonn, Germany
    Biochem Biophys Res Commun 296:721-8. 2002
    The autosomal dominant skin disorder erythrokeratodermia variabilis (EKV) has been linked to mutations in the human connexin31 (hCx31) gene, which is expressed in the epidermis...
  13. ncbi Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells
    Li Qiang He
    National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Acta Biochim Biophys Sin (Shanghai) 37:547-54. 2005
    Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown...
  14. ncbi Clinical and genetic heterogeneity of erythrokeratoderma variabilis
    John 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. 2005
    The 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...
  15. ncbi The expression of multiple connexins throughout spermatogenesis in the rainbow trout testis suggests a role for complex intercellular communication
    Benjamin 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...
  16. ncbi Multiple members of the connexin gene family participate in preimplantation development of the mouse
    T 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...
  17. ncbi The detection of hamster connexins: a comparison of expression profiles with wild-type mouse and the cancer-prone Min mouse
    Véronique 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...
  18. ncbi Influence of municipal effluents on the expression of connexins in the brook trout (Salvelinus fontinalis) testis
    Benjamin 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...
  19. ncbi Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss
    Kirk W Beisel
    Department of Biomedical Sciences, Creighton University, Omaha, Nebraska 68178, USA
    J Neurosci 25:9285-93. 2005
    Human KCNQ4 mutations known as DFNA2 cause non-syndromic, autosomal-dominant, progressive high-frequency hearing loss in which the cellular and molecular basis is unclear...
  20. ncbi Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan
    Jiann 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)...
  21. ncbi Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses
    An 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 ..
  22. ncbi Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2
    K 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 ..
  23. ncbi A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment
    Martijn 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...
  24. ncbi Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate
    A 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 ..
  25. ncbi Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea
    Jiann jou Yang
    Genetics Laboratory and Department of BioMedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
    Biochem Biophys Res Commun 338:723-8. 2005
    Multiple types of connexin (Cxs) products, including Cx26, Cx30, Cx31, and Cx43, are found by immunolabeling in the mature cochlea...
  26. ncbi Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin
    A 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 ..
  27. ncbi 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 system
    Jun 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...
  28. pmc Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness
    Tatjana 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...
  29. ncbi Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
    Z 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...
  30. ncbi Running over rough terrain: guinea fowl maintain dynamic stability despite a large unexpected change in substrate height
    Monica 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) ..
  31. ncbi Expression of the mouse gap junction gene Gjb3 is regulated by distinct mechanisms in embryonic stem cells and keratinocytes
    Achim 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 ..
  32. ncbi Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping
    J 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...
  33. ncbi Expression pattern of different gap junction connexins is related to embryo implantation
    R 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 ..
  34. ncbi Prolonged dark adaptation changes connexin expression in the mouse retina
    Alexandre 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...
  35. pmc Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy
    Bradley 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 ..
  36. doi 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 cortex
    E 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...
  37. doi Antisense down regulation of connexin31.1 reduces apoptosis and increases thickness of human and animal corneal epithelia
    C Y Chang
    Department of Ophthalmology, The University of Auckland, New Zealand
    Cell Biol Int 33:376-85. 2009
    The roles of the gap junction protein connexin31.1 (Cx31.1) are poorly understood, especially as the protein appears to form non-functional channels. Cx31...
  38. ncbi A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
    Nuria Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 19:458. 2002
    Mutations in GJB1, GJB2, GJB3 and GJB6 are involved in hearing impairment. GJB2, GJB3 and GJB6 are also mutated in patients with hyperproliferative skin disorders...
  39. ncbi Cells heterozygous for the ApcMin mutation have decreased gap junctional intercellular communication and connexin43 level, and reduced microtubule polymerization
    Trine 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...
  40. ncbi An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22
    Thomas 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...
  41. ncbi Further delineation of the hypotrichosis-deafness syndrome
    Maurice 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...
  42. ncbi A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression
    Angeles Mencia
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain
    Hum Genet 123:41-53. 2008
    Mutations 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...
  43. doi Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss
    I 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...
  44. doi Green tea prevents down-regulation of gap junction intercellular communication in human keratinocytes treated with PMA
    Yun 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...
  45. pmc Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants
    Kun 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...
  46. ncbi Molecular genetics study of deafness in Brazil: 8-year experience
    Camila 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 ..
  47. ncbi Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: molecular cloning of mouse connexin31 and -45 cDNAs
    H 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...
  48. pmc Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines
    S 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...
  49. pmc KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
    T Kharkovets
    Zentrum fur Molekulare Neurobiologie Hamburg, Universitat Hamburg, Martinistrasse 85, D 20246 Hamburg, Germany
    Proc Natl Acad Sci U S A 97:4333-8. 2000
    Mutations 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...
  50. ncbi Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    D 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. 2000
    Recently, 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...
  51. ncbi Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region
    P Van Hauwe
    Department of Medical Genetics, University of Antwerp, Belgium
    Am J Med Genet 93:184-7. 2000
    The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4...
  52. ncbi Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes
    J 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...
  53. ncbi Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family
    Els 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...
  54. ncbi Segment-specific expression of connexin31 in the embryonic hindbrain is regulated by Krox20
    Stefan 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...
  55. ncbi Multiple connexins contribute to intercellular communication in the Xenopus embryo
    Yosef 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...
  56. ncbi Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome
    R 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...
  57. ncbi The vertebrate connexin family
    V 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)...
  58. ncbi Blockage of testicular connexins induced apoptosis in rat seminiferous epithelium
    Nikki 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...
  59. ncbi Implication of gap junction coupling in amphibian vitellogenin uptake
    M 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...
  60. ncbi Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening
    Cai 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...
  61. doi A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis
    R Renner
    J Eur Acad Dermatol Venereol 22:750-1. 2008
  62. pmc KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss
    Liping 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. 2008
    This 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.
  63. doi Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system
    Maria 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...
  64. doi 5-AZA-2'-deoxycytidine (5-AZA-CdR) leads to down-regulation of Dnmt1o and gene expression in preimplantation mouse embryos
    Jian 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 ..
  65. doi 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
    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...
  66. doi Seasonal variations in testicular connexin levels and their regulation in the brook trout, Salvelinus fontinalis
    Benjamin 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...
  67. doi Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia
    S 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...
  68. doi Key functions for gap junctions in skin and hearing
    Claire 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...
  69. pmc Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China
    Yajie 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 ..
  70. doi Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss
    Gendong 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...
  71. pmc Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss
    Byung 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...
  72. doi Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia
    Maxime 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.
  73. doi Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss
    Tung 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...
  74. doi Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss
    Christopher 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 ..
  75. ncbi Study on connexin gene and protein expression and cellular distribution in relation to real-time proliferation of porcine granulosa cells
    B 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...
  76. doi Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis
    Jie 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...
  77. doi Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10
    A 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...
  78. pmc Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea
    Makoto 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 ..
  79. doi Erythrokeratodermia variabilis et progressiva
    Akemi 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...
  80. ncbi Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31
    J H Hoh
    Division of Biology 156 29, California Institute of Technology, Pasadena 91125
    J Biol Chem 266:6524-31. 1991
    A 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...
  81. ncbi Erythrokeratodermia variabilis present at birth: case report and review of the literature
    J D Hendrix
    Department of Dermatology, University of Virginia School of Medicine, Charlottesville 22908, USA
    Pediatr Dermatol 12:351-4. 1995
    A 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...
  82. ncbi A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region
    R J Ensink
    Department of Otorhinolaryngology and Head Neck Surgery, University Hospital, Nijmegen, The Netherlands
    Eur Arch Otorhinolaryngol 257:62-7. 2000
    We 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...
  83. ncbi Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
    X 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)...
  84. ncbi K+ cycling and the endocochlear potential
    Philine 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...
  85. ncbi K(+) cycling and its regulation in the cochlea and the vestibular labyrinth
    Philine 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(+)...
  86. ncbi Virtual cloning, functional expression, and gating analysis of human connexin31.9
    Thomas 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...
  87. ncbi DFNA2/KCNQ4 and its manifestations
    Els M R De Leenheer
    Department of Otorhinolaryngology, University Medical Centre Nijmegen, The Netherlands
    Adv Otorhinolaryngol 61:41-6. 2002
  88. ncbi Acitretin for erythrokeratodermia variabilis in a 9-year-old girl
    Robin A C Graham-Brown
    Department of Dermatology, Leicester Royal Infirmary, Leicester, United Kingdom
    Pediatr Dermatol 19:510-2. 2002
    Erythrokeratodermia variabilis (EKV) is a rare genodermatosis with a unique phenotype. Treatment with oral synthetic retinoids is well documented in adults, but not in children...
  89. ncbi Audiologic evidence for further genetic heterogeneity at DFNA2
    Ryan 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. 2002
    A 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...
  90. ncbi Bovine embryo culture in the presence or absence of serum: implications for blastocyst development, cryotolerance, and messenger RNA expression
    D 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)...
  91. ncbi Resting potential and submembrane calcium concentration of inner hair cells in the isolated mouse cochlea are set by KCNQ-type potassium channels
    Dominik 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.
  92. ncbi Differences in expression patterns between mouse connexin-30.2 (Cx30.2) and its putative human orthologue, connexin-31.9
    Peter 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...
  93. ncbi Characterization of connexin 30.3 and 43 in thymocytes
    Paula 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...
  94. ncbi Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutations
    Martina 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...
  95. ncbi Species-related differences in blastocyst quality are associated with differences in relative mRNA transcription
    Dimitrios 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 ..
  96. ncbi [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. 2004
    To study the relation between hereditary nonsyndromic hearing impairment (NSHI) in Chinese and mutation in Connexin 31 (Cx31) gene and to explore the pathogenic mechanism.
  97. ncbi [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...
  98. ncbi Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss
    S T Arican
    Genet Couns 16:309-11. 2005
  99. ncbi Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation
    Amy 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...
  100. ncbi [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...
  101. ncbi 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...

Research Grants17

  1. Internalization of gap junctions as a regulatory mechanism of direct GJIC
    Matthias 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, ..
  2. GAP JUNCTIONS AND IONIC CURRENTS IN DEVELOPING HEART
    Jenny 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...
  3. Functions and Disorders of K Channels in the Ineer Ear
    Tsung Yu Chen; Fiscal Year: 2012
    ..Lang Nielson syndrome (JLNS), and an autosomal dominant form of nonsyndromic progressive hearing loss (PHL: DFNA2)...
  4. New APEX diagnostic for hereditary sensorineural hearing loss
    Phyllis 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)...
  5. Gene Transfer to the Inner Ear
    Anne 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...
  6. Newborn Screening for Hearing Impairment
    Edwin 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, ...
  7. CONNEXIN MUTATIONS IN HUMAN SKIN DISEASE
    Thomas White; Fiscal Year: 2001
    ..e. Vohwinkel's syndrome). In a similar fashion, mutations in Cx31 (GJB3) can cause either hearing loss, or EKV...
  8. CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROME
    Gabriele Richard; Fiscal Year: 2002
    ....
  9. CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATION
    Gabriele 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...
  10. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    Xue 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. ..
  11. Pathogenesis of Disease-Associated Connexin-31 Mutations
    Zhuohua 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...
  12. CYTOSOLIC REGULATION OF INNER EAR ION TRANSPORT
    A 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, ..
  13. Gap Junction Channels Formation and Gating
    Feliksas Bukauskas; Fiscal Year: 2007
    ..Abnormalities in GJ channels play a key role in generating cardiac arrhythmias, uterine malfunction, epileptic seizures and malignant cell growth. ..
  14. Ion Channel Function in Auditory & Vestibular hair cells
    Jeffrey 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. ..
  15. Connexins and Heart Function
    Feliksas 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. ..
  16. MOLECULAR DISSECTION OF THE ORGAN OF CORTI
    Kirk 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. ..
  17. MOLECULAR DELINEATION OF THE COCHLEAR HAIR CELLS
    Kirk Beisel; Fiscal Year: 2002
    ....