GJB2

Summary

Gene Symbol: GJB2
Description: gap junction protein beta 2
Alias: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction beta-2 protein, connexin 26, gap junction protein, beta 2, 26kDa, mutant gap junction protein beta 2
Species: human

Top Publications

  1. doi Structure of the connexin 26 gap junction channel at 3.5 A resolution
    Shoji Maeda
    Institute for Protein Research, Osaka University, OLABB, 6 2 3, Furuedai, Suita, Osaka 565 0874, Japan
    Nature 458:597-602. 2009
  2. doi Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss
    Soo Young Choi
    Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea
    Hum Mutat 30:E716-27. 2009
  3. pmc Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment
    Yongyi Yuan
    Department of Otolaryngology, PLA General Hospital, Beijing, People s Republic of China
    PLoS ONE 7:e30720. 2012
  4. ncbi Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
    F Denoyelle
    Unité de Génétique de Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France
    Hum Mol Genet 6:2173-7. 1997
  5. ncbi Connexin 26 35delG does not represent a mutational hotspot
    Caryn R Rothrock
    Department of Microbiology and Molecular Genetics, Michigan State University, 5163 Biomedical and Physical Sciences Building, East Lansing, Michigan 48824 4320, USA
    Hum Genet 113:18-23. 2003
  6. ncbi Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
    Denise Yan
    Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 114:44-50. 2003
  7. doi Connexin-26 mutations in deafness and skin disease
    Jack R Lee
    Department of Physiology and Biophysics, Stony Brook University Medical Center, Stony Brook, New York 11794 8661, USA
    Expert Rev Mol Med 11:e35. 2009
  8. ncbi Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing
    Bai Lin Wu
    Department of Laboratory Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    Genet Med 4:279-88. 2002
  9. pmc Connexin26 deafness associated mutations show altered permeability to large cationic molecules
    Gulistan Mese
    Graduate Program in Genetics, State University of New York, Stony Brook, New York 11794 8661, USA
    Am J Physiol Cell Physiol 295:C966-74. 2008
  10. doi Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Athens, Greece
    Am J Med Genet A 146:2879-84. 2008

Research Grants

  1. Thomas W White; Fiscal Year: 2014
  2. Internalization of gap junctions as a regulatory mechanism of direct GJIC
    Matthias M Falk; Fiscal Year: 2013
  3. Structure and Dynamics of Gap Junction Channels
    MARK JAY YEAGER; Fiscal Year: 2013
  4. Guy A Perkins; Fiscal Year: 2016
  5. Xi Lin; Fiscal Year: 2015
  6. Andrew L Harris; Fiscal Year: 2016
  7. SiRNA therapeutics: Gap junction delivery in vitro and in vivo
    Richard T Mathias; Fiscal Year: 2013
  8. TERRY L DOWD; Fiscal Year: 2015
  9. Mutant cochlear connexins associated with deafness
    Guillermo Altenberg; Fiscal Year: 2006
  10. PROPERTIES OF CONNEXIN CHANNELS THAT CAUSE DEAFNESS
    Andrew Harris; Fiscal Year: 2006

Detail Information

Publications300 found, 100 shown here

  1. doi Structure of the connexin 26 gap junction channel at 3.5 A resolution
    Shoji Maeda
    Institute for Protein Research, Osaka University, OLABB, 6 2 3, Furuedai, Suita, Osaka 565 0874, Japan
    Nature 458:597-602. 2009
    ..Here we report the crystal structure of the gap junction channel formed by human connexin 26 (Cx26, also known as GJB2) at 3...
  2. doi Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss
    Soo Young Choi
    Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea
    Hum Mutat 30:E716-27. 2009
    Mutations in the GJB2 gene, which encodes the gap junction (GJ) protein connexin26 (Cx26), are the most common cause of inherited non-syndromic hearing loss (NSHL). We identified two missense mutations, p.D46E (c.138T>G) and p.T86R (c...
  3. pmc Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment
    Yongyi Yuan
    Department of Otolaryngology, PLA General Hospital, Beijing, People s Republic of China
    PLoS ONE 7:e30720. 2012
    ..To provide appropriate genetic testing and counseling to Tibetan families, we investigated molecular etiology of nonsyndromic deafness in this population...
  4. ncbi Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
    F Denoyelle
    Unité de Génétique de Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France
    Hum Mol Genet 6:2173-7. 1997
    ..For two of them, DFNB1 and DFNB2, the genes responsible have been characterized; they encode connexin 26 and myosin VIIA, respectively...
  5. ncbi Connexin 26 35delG does not represent a mutational hotspot
    Caryn R Rothrock
    Department of Microbiology and Molecular Genetics, Michigan State University, 5163 Biomedical and Physical Sciences Building, East Lansing, Michigan 48824 4320, USA
    Hum Genet 113:18-23. 2003
    ..Mutations in the gap junction gene GJB2 account for a high proportion of recessive NSHI. The GJB2 gene encodes connexin 26, which forms plasma membrane channels between cochlear cells...
  6. ncbi Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
    Denise Yan
    Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
    Hum Genet 114:44-50. 2003
    Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations...
  7. doi Connexin-26 mutations in deafness and skin disease
    Jack R Lee
    Department of Physiology and Biophysics, Stony Brook University Medical Center, Stony Brook, New York 11794 8661, USA
    Expert Rev Mol Med 11:e35. 2009
    ..Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause ..
  8. ncbi Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing
    Bai Lin Wu
    Department of Laboratory Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    Genet Med 4:279-88. 2002
    ..loss is a common congenital disorder that is frequently associated with mutations in the GJB2 gene encoding the connexin 26 protein (Cx26)...
  9. pmc Connexin26 deafness associated mutations show altered permeability to large cationic molecules
    Gulistan Mese
    Graduate Program in Genetics, State University of New York, Stony Brook, New York 11794 8661, USA
    Am J Physiol Cell Physiol 295:C966-74. 2008
    Intercellular communication is important for cochlear homeostasis because connexin26 (Cx26) mutations are the leading cause of hereditary deafness...
  10. doi Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Athens, Greece
    Am J Med Genet A 146:2879-84. 2008
    ..severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein...
  11. doi Connexin-26-associated deafness: phenotypic variability and progression of hearing loss
    Dylan K Chan
    Department of Otolaryngology Head and Neck Surgery, Lucille Packard Children s Hospital, Stanford University Hospital and Clinics, Stanford, California 94305, USA
    Genet Med 12:174-81. 2010
    To evaluate genotype-phenotype correlation over time for a cohort of children with connexin-26 (GJB2)-associated autosomal recessive hearing loss.
  12. ncbi [Tonal audiometry of GJB2 235delC single heterozygous mutation carriers]
    Qi Li
    Department of Otorhinolaryngology Head and Neck Surgery, Nanjing Children s Hospital, Nanjing Medical University, Nanjing 210008, China
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 46:543-6. 2011
    To analyze GJB2 235delC monoallelic mutation carrier individuals and test the possible presence and incidence of audiometric abnormalities among 30-60 years old carriers of the 235delC mutations.
  13. pmc A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
    K Heathcote
    Medical Genetics Unit, St George s Hospital Medical School, Tooting, London SW17 0RE, UK
    J Med Genet 37:50-1. 2000
    We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis...
  14. ncbi The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers
    B Engel-Yeger
    Evoked Potential Laboratory, Technion, Haifa, Israel
    Hear Res 163:93-100. 2002
    ..inner hair cells and the brainstem auditory pathway are impaired due to a mutation in a gap junction protein, connexin 26 (Cx26), 35delG...
  15. ncbi Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan
    Yi chun Wang
    Department of Life Sciences and Genetics Laboratory, Chung Shan Medical University, Taichung, Taiwan, Republic of China
    Eur J Hum Genet 10:495-8. 2002
    Mutations in the Cx26 (GJB2) gene have been shown to be responsible for a major part of autosomal recessive non-syndromic inherited prelingual deafness...
  16. ncbi Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria
    Andreas R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Schöpfstr 41, A 6020 Innsbruck, Austria
    Hum Genet 111:145-53. 2002
    Mutations of GJB2 (encoding connexin 26) are the most common cause of hearing loss (HL) in different populations, and a broad spectrum of GJB2 mutations has been identified...
  17. ncbi High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
    G Minarik
    Department of Molecular Biology, Comenius University Faculty of Natural Sciences, Mlynská dolina B2 210, 842 15 Bratislava 4, Slovakia
    Gen Physiol Biophys 22:549-56. 2003
    Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide...
  18. ncbi [Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China]
    Pu Dai
    Department of Otorhinolaryngology Head and Neck Surgery, General Hospital of Chinese People s Liberation Army, Beijing 100853, China
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 42:804-8. 2007
    To determine the prevalence of a common GJB2 mutation in a big Chinese population of deaf children and the features of its distribution in regions all over the nation and to provide epidemiology data and expertise for genetic testing of ..
  19. doi Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss
    Paola Primignani
    Laboratorio di Genetica Medica, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena Milano, Milan, Italy
    Genet Test Mol Biomarkers 13:209-17. 2009
    Mutations in the GJB2 gene, which encodes the gap-junction protein connexin 26, are the most common cause of nonsyndromic hearing loss (NSHL) and account for about 32% of cases...
  20. doi GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population
    Viviana Dalamon
    Instituto de Investigaciones en Ingenieria Genetica y Biologia Molecular, Consejo Nacional de Investigaciones Cientificas y Tecnicas, Universidad de Buenos Aires, Buenos Aires, Argentina
    Audiol Neurootol 15:194-202. 2010
    ..Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are ..
  21. pmc Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability
    Cinzia Ambrosi
    National Center for Microscopy and Imaging Research, Center for Research in Biological Systems, University of California, San Diego, La Jolla, California, USA
    Biophys J 98:1809-19. 2010
    ..These mutations do not affect Cx26 trafficking in mammalian cells, and make normal-appearing channels in baculovirus-infected Sf9 membranes when ..
  22. doi Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss
    S Battelino
    Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Slovenia
    J Laryngol Otol 126:763-9. 2012
    Mutations in the gap junction protein beta-2 gene ('GJB2') are known to be responsible for mild to profound congenital and late-onset hearing loss...
  23. ncbi GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals
    Elif Baysal
    Department of Otolaryngology, Faculty of Medicine, Gazi University, TR 06510 Besevler, Ankara, Turkey
    J Genet 87:53-7. 2008
    This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls...
  24. doi Infant hearing loss and connexin testing in a diverse population
    Lisa A Schimmenti
    Department of Pediatrics, Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    Genet Med 10:517-24. 2008
    ..This is the first study to differentiate infants with and without connexin-related hearing loss...
  25. ncbi Connexin 26 expression correlates with less aggressive phenotype of intestinal type-gastric carcinomas
    Xiaoli Liu
    Department of Pathology, Shanghai Medical College, Fudan University, Shanghai 200032, PR China
    Int J Mol Med 25:709-16. 2010
    b>Connexin 26 (Cx26), one of the gap junction-forming family members, is more controversial than other members, as a tumor suppressor...
  26. doi GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China
    Guanming Chen
    Department of Otolaryngology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China
    Int J Pediatr Otorhinolaryngol 75:1156-9. 2011
    The GJB2 and MTRNR1 1555A>G mutations are the prevalent causes of hearing loss worldwide. However, the mutation profiles of the two genes are dependent on the ethnic or geographic origins...
  27. ncbi High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
    T Antoniadi
    Clin Genet 55:381-2. 1999
  28. ncbi The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece
    Gérard Lucotte
    Institute of Molecular Anthropology, 75005 Paris, France
    Genet Test 9:20-5. 2005
    The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus represents the most common mutation in Caucasian patients with genetic sensorineural deafness...
  29. doi Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    J Hum Genet 55:265-9. 2010
    ..Here we summarize evidence regarding modifying genes, and we discuss the effect of the coexistence of mitochondrial and GJB2 mutations in families reported to date.
  30. pmc GJB2 mutations and degree of hearing loss: a multicenter study
    Rikkert L Snoeckx
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Hum Genet 77:945-57. 2005
    ..Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive ..
  31. pmc Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
    Yongyi Yuan
    Department of Otolaryngology, PLA General Hospital, Beijing, PR China
    J Transl Med 7:79. 2009
    ..To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China...
  32. pmc Prevalent connexin 26 gene (GJB2) mutations in Japanese
    S Abe
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
    J Med Genet 37:41-3. 2000
    The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far...
  33. ncbi A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 8:1237-43. 1999
    ..in the connexin26 (Cx26) gene ( GJB2 ) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in autosomal dominant deafness (DFNA3)...
  34. ncbi The prevalence of connexin 26 ( GJB2) mutations in the Chinese population
    Xue Zhong Liu
    Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, Florida 33136, USA
    Hum Genet 111:394-7. 2002
    Mutations in GJB2, encoding gap junction beta 2 protein (connexin 26), are responsible for the commonest form of non-syndromic recessive deafness in many populations...
  35. ncbi Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns
    Tomohiro Oguchi
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, 390 8621, Japan
    J Hum Genet 50:76-83. 2005
    Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations...
  36. pmc Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
    Ram Shankar Mani
    Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, India
    Eur J Hum Genet 17:502-9. 2009
    In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (-23G>T, I33T, 377_383dupTCCGCAT, W172R) and the remaining 14 (ivs1+1G>A, M1V, ..
  37. ncbi The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
    T Sobe
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Israel
    Hum Genet 106:50-7. 2000
    b>Connexin 26 (GJB2) mutations lead to hearing loss in a significant proportion of all populations studied so far, despite the fact that at least 50 other genes are also associated with hearing loss...
  38. pmc A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
    L Van Laer
    Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    J Med Genet 38:515-8. 2001
    ..severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations...
  39. ncbi Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
    Hashem Shahin
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, 69978 Israel
    Hum Genet 110:284-9. 2002
    ..48 independently ascertained probands with non-syndromic hearing loss were evaluated for mutations in the connexin 26 gene. Of the 48 deaf probands, 11 (23%) were homozygous or compound heterozygous for mutations in GJB2...
  40. ncbi Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function
    Atsunori Oshima
    Department of Biophysics, Graduate School of Science, Kyoto University, Oiwake, Kitashirakawa, Sakyo ku, Kyoto 606 8502, Japan
    J Biol Chem 278:1807-16. 2003
    ..Malfunctioning of connexin channels often cause disease, such as the mutations M34T and R75W in human connexin 26, which are associated with hereditary deafness...
  41. ncbi Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness
    R Bruzzone
    Departement of Neuroscience, Institut Pasteur, 75015, Paris
    FEBS Lett 533:79-88. 2003
    ..functional analysis by selecting nine mutations in Cx26 that are associated with non-syndromic recessive deafness (DFNB1)...
  42. ncbi Transport and function of cx26 mutants involved in skin and deafness disorders
    Tamsin Thomas
    Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario, Canada
    Cell Commun Adhes 10:353-8. 2003
    We examined the subcellular localization and function of several Cx26 mutants that exhibit both sensorineural deafness and various skin disease phenotypes...
  43. ncbi High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals
    D Wattanasirichaigoon
    Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    Clin Genet 66:452-60. 2004
    ..Several previous studies have demonstrated that mutations of connexin 26 (Cx26 or GJB2) are responsible for most cases of the recessive non-syndromic sensorineural hearing loss (NSSHL)...
  44. ncbi Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 123:856-63. 2004
    ..lies within a cluster of pathogenic GJB2 mutations affecting the evolutionary conserved first extracellular loop of Cx26 important for docking of connexin hemichannels and voltage gating...
  45. pmc The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children
    H H M Dahl
    Genetic Hearing Research, Murdoch Childrens Research Institute and Department of Paediatrics Melbourne University, Royal Children s Hospital, Melbourne, Victoria, Australia
    J Med Genet 43:850-5. 2006
    ..We report the first systematic genetic analysis of the GJB2 gene in a population-derived sample of children with slight/mild bilateral SNHL.
  46. pmc A novel hearing-loss-related mutation occurring in the GJB2 basal promoter
    T D Matos
    J Med Genet 44:721-5. 2007
    Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries...
  47. doi GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
    Yu Fen Guo
    Department of Otolaryngology Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou, China
    Acta Otolaryngol 128:297-303. 2008
    ..in Northern Chinese patients can be detected at younger ages by genetic testing of three common hearing loss genes (GJB2, SLC26A4 and mtDNA A1555G), and thus, early intervention measures could be undertaken to help them in language ..
  48. doi Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes
    Jack R Lee
    Department of Physiology and Biophysics, Stony Brook University Medical Center, Stony Brook, New York 11794 8661, USA
    J Invest Dermatol 129:870-8. 2009
    Mutations in the GJB2 gene-encoding connexin 26 (Cx26) have been linked to skin disorders and genetic deafness. However, the severity and type of the skin disorders caused by Cx26 mutations are heterogeneous...
  49. ncbi A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness
    E A de Zwart-Storm
    J Med Genet 45:161-6. 2008
    ..One of the skin expressed gap junction genes is GJB2, which codes for connexin 26 and is associated with a wide variety of keratinisation disorders...
  50. ncbi GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment
    G Padma
    Department of Genetics, Osmania University, Tarnaka, Hyderabad 500 007, India
    J Genet 88:267-72. 2009
    ..Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with ..
  51. ncbi Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
    G Richard
    Genetics Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 2757, USA
    Hum Genet 103:393-9. 1998
    Mutations in GJB2 encoding the gap junction protein connexin-26 (Cx26) have been established as the basis of autosomal recessive non-syndromic hearing loss...
  52. ncbi High frequency hearing loss correlated with mutations in the GJB2 gene
    S A Wilcox
    The Murdoch Institute, Royal Children s Hospital, Melbourne, Australia
    Hum Genet 106:399-405. 2000
    Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss...
  53. ncbi Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
    R Rabionet
    Deafness Research Group, Medical and Molecular Genetics Center, CGMM IRO, Barcelona, Spain
    Hum Genet 106:40-4. 2000
    Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations...
  54. pmc Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
    M J Houseman
    Molecular Medicine Unit, St James s University Hospital, Leeds LS9 7TF, UK
    J Med Genet 38:20-5. 2001
    ..GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11...
  55. ncbi Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss
    L Bason
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Clin Genet 61:459-64. 2002
    Mutations in the Connexin 26 (Cx26) gene have been found to account for approximately 20% of all childhood deafness. This number approaches 50% in documented recessive cases of hearing loss...
  56. ncbi GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
    Aileen Kenneson
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341 3724, USA
    Genet Med 4:258-74. 2002
    Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations...
  57. pmc A genotype-phenotype correlation for GJB2 (connexin 26) deafness
    K Cryns
    Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
    J Med Genet 41:147-54. 2004
    Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test.
  58. ncbi Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness
    Martina Beltramello
    Venetian Institute of Molecular Medicine, via G Orus 2, 35129 Padua, Italy
    Nat Cell Biol 7:63-9. 2005
    ..Here we describe an investigation of the properties of a recombinantly expressed recessive mutant of connexin 26 (Cx26), the V84L mutant, associated with deafness...
  59. ncbi Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations
    Regie Lyn P Santos
    Department of Epidemiology and Biostatistics, Genetic Epidemiology Unit, Erasmus Medical Center Rotterdam, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
    Int J Pediatr Otorhinolaryngol 69:165-74. 2005
    Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairment with these mutations remains inconsistent...
  60. ncbi GJB2 mutations: passage through Iran
    Hossein Najmabadi
    Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran
    Am J Med Genet A 133:132-7. 2005
    ..Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2, are the most common cause of congenital severe-to-profound deafness in many different populations...
  61. ncbi Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
    T Hutchin
    Molecular Medicine Unit, St James s University Hospital, University of Leeds, UK
    Clin Genet 68:506-12. 2005
    ..Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but the relative contribution of the many other genes is not ..
  62. pmc DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
    Hsiao Yuan Tang
    Bobby R Alford Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 140:2401-15. 2006
    Mutations in GJB2 are associated with hereditary hearing loss. DNA sequencing of GJB2 in a cohort of hearing impaired patients and a multi-ethnic control group is reported...
  63. ncbi The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
    Pu Dai
    Department of Otorhinolaryngology Head, PLA General Hospital, Beijing, People s Republic of China
    Genet Med 9:283-9. 2007
    Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment in populations studied to date. However, the prevalence of mutations varies among different ethnic groups...
  64. ncbi [Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases]
    Fei Yu
    Department of Otolaryngology, Head and Neck Surgery, Institute of Otorhinolaryngology, Genetic Testing Center for Deafness, People s Liberation Army General Hospital, Beijing 100853, China
    Zhonghua Yi Xue Za Zhi 87:2814-9. 2007
    To analyze the sequence of GJB2 gene in nonsyndromic hearing impairment (NSHI) patients in China.
  65. 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...
  66. 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
    ..cells (NMECs) but not in mammary tumor cell lines (TMECs), led to the cloning of the human gap junction gene connexin 26 (Cx26), identified by its sequence similarity to the rat gene...
  67. ncbi Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
    F Denoyelle
    Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France
    Lancet 353:1298-303. 1999
    b>DFNB1, the locus of an autosomal recessive form of deafness due to mutations in the connexin-26 gene (CX26 or GJB2) is one of the most frequent hereditary defects in human beings...
  68. ncbi Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    T Kudo
    Department of Otorhinolaryngology, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet 90:141-5. 2000
    Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein and is expressed in the inner ear, have been shown to be responsible for a major part of nonsyndromic hereditary prelingual (early-childhood) deafness in ..
  69. ncbi Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
    I Lerer
    Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel
    Am J Med Genet 95:53-6. 2000
    ..patients with nonsyndromic prelingual deafness (NSD) were analyzed for mutations in the coding sequence of the connexin 26 (Cx26) gene. Biallelic mutations were identified in 19 of the 27 patients (70...
  70. ncbi Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
    C Hamelmann
    Bernhard Nocht Institute for Tropical Medicine, 20359 Hamburg, Germany
    Hum Mutat 18:84-5. 2001
    Mutations of the connexin 26 gene (GJB2) were studied in 365 apparently unrelated individuals with profound nonsyndromic, sensorineural hearing impairment from Ghana, West Africa...
  71. ncbi A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
    I Lerer
    Department of Human Genetic, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel
    Hum Mutat 18:460. 2001
    ..could be due to a digenic mode of inheritance of GJB2 and GJB6 genes that encode two different connexins; connexin 26 and connexin 30, or it may abolish control elements that are important in the expression of the GJB2 gene in ..
  72. ncbi A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
    Nathalie Pallares-Ruiz
    Laboratoire de Genetique Moleculaire, 34093 Montpellier Cedex, France
    Eur J Hum Genet 10:72-6. 2002
    ..Mutations in the GJB2 gene (connexin 26) account for more than 50% of the recessive non syndromic deafness (DFNB1) among 30 loci...
  73. ncbi Connexin family members target to lipid raft domains and interact with caveolin-1
    Anne Lane Schubert
    Department of Molecular Pharmacology and Albert Einstein Cancer Center and Department of Neuroscience, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA
    Biochemistry 41:5754-64. 2002
    ..We also show that other connexins (Cx32, Cx36, and Cx46) are targeted to lipid rafts, while Cx26 and Cx50 are specifically excluded from these membrane microdomains...
  74. ncbi Identification of 605ins46, a novel GJB2 mutation in a Japanese family
    Isamu Yuge
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Auris Nasus Larynx 29:379-82. 2002
    b>Connexin 26 gene (GJB2) mutations are known to be responsible for a significant portion (30-80%) of autosomal recessive congenital severe to profound deafness...
  75. ncbi Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
    Nerissa K Marziano
    UCL Centre for Auditory Research and Institute of Laryngology and Otology, 330 332 Gray s Inn Road, London WC1X 8EE, UK
    Hum Mol Genet 12:805-12. 2003
    Mutations in the gene (GJB2) encoding connexin 26 (cx26) have been linked to sensorineural hearing loss either alone or as part of a syndrome...
  76. ncbi GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China
    Gui Zhi Shi
    Department of Forensic Medicine, Medical College of Shantou University, 22 Xinling Road, Shantou 515031, Guangdong, People s Republic of China
    Hear Res 197:19-23. 2004
    Mutations in GJB2 account for the majority of recessive forms of prelingual hearing loss...
  77. ncbi High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss
    Araceli Alvarez
    Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
    Am J Med Genet A 137:255-8. 2005
    Molecular testing for mutations in the gene encoding connexin-26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non-syndromic hearing impairment (ARNSHI)...
  78. pmc Pathogenetic role of the deafness-related M34T mutation of Cx26
    Massimiliano Bicego
    Dipartimento di Biochimica, Biofisica e Chimica delle Macromolecole, University of Trieste, and Servizio di Genetica Medica, IRCCS Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Hum Mol Genet 15:2569-87. 2006
    Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causing hereditary deafness remains controversial...
  79. pmc A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26
    Ken Arita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Am J Pathol 169:416-23. 2006
    ..The N-terminal 21 amino acids of Cx26 are located at the cytoplasmic side of the channel pore and are thought to be essential for the regulation of ..
  80. ncbi Connexin26 expression is associated with lymphatic vessel invasion and poor prognosis in human breast cancer
    Yasuto Naoi
    Department of Breast and Endocrine Surgery, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita Shi, Osaka, 565 0871, Japan
    Breast Cancer Res Treat 106:11-7. 2007
    b>Cx26, which is a constituent of the connexin family, has recently been shown to promote metastasis through enhancing the vascular invasion in mouse melanoma cells...
  81. ncbi The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population
    Asli Sirmaci
    Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara 06100, Turkey
    J Genet 85:213-6. 2006
  82. ncbi Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness
    Dwan A Gerido
    Dept of Physiology and Biophysics, State University of New York, T5 147, Basic Science Tower, Stony Brook, NY 11794 8661, USA
    Am J Physiol Cell Physiol 293:C337-45. 2007
    Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various forms of hereditary deafness and skin disease...
  83. ncbi Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature
    Katherine O Welch
    Department of Biology, Gallaudet University, Washington, District of Columbia 20002, USA
    Am J Med Genet A 143:1567-73. 2007
    Mutations in GJB2 (which encodes the gap-junction protein connexin 26) are the most common cause of genetic deafness in many populations. To date, more than 100 deafness-causing mutations have been described in this gene...
  84. pmc A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro
    Y K Stella Man
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary University of London, 4 Newark Street, Whitechapel, London, UK
    J Membr Biol 218:29-37. 2007
    A large proportion of recessive nonsyndromic hearing loss is due to mutations in the GJB2 gene encoding connexin 26 (Cx26), a component of a gap junction...
  85. ncbi M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance
    Agnieszka Pollak
    Institute of Physiology and Pathology of Hearing, Warsaw, Poland
    Am J Med Genet A 143:2534-43. 2007
    Despite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial...
  86. ncbi A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
    Laurence Jonard
    Laboratoire de Biochimie, INSERM U587, Centre de Référence des Surdités Génétiques, Hopital Armand Trousseau, AP HP, 24 av du Dr A Netter, Paris 75012, France
    Eur J Med Genet 51:35-43. 2008
    ..KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes. GJB2 mutations in the connexin 26 gene are the main cause of the disease...
  87. doi Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss
    René Utrera
    Departamento de Biologia Celular, Universidad Simon Bolivar, Caracas, Venezuela 1081 A
    Genet Test 11:347-52. 2007
    ..hearing loss (ARNSHL) is mutation in GJB2, a gene on chromosome 13, which encodes a gap junction protein named Connexin 26. Mutations in GJB2 are responsible for 40% of genetic childhood deafness...
  88. pmc Projection structure of a N-terminal deletion mutant of connexin 26 channel with decreased central pore density
    Atsunori Oshima
    Department of Biophysics, Faculty of Science, Kyoto University, Kyoto, Japan
    Cell Commun Adhes 15:85-93. 2008
    ..The three-dimensional structure of a mutant human connexin 26 (Cx26M34A) by electron cryocrystallography revealed a plug-like density in the channel pore suggesting that ..
  89. doi Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population
    Y Bajaj
    Department of ENT, Great Ormond Street Hospital and Institute of Child Health, London, UK
    Clin Otolaryngol 33:313-8. 2008
    Mutations in Gap Junction Beta 2 (GJB2) (the gene encoding the protein Connexin 26) have been found to be a major cause of non-syndromic sensorineural recessive deafness...
  90. 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...
  91. doi Detection of epidermal thickening in GJB2 carriers with epidermal US
    Pierpaolo Guastalla
    Radiology Unit, Institute of Child Health, Istituto di Ricovero e Cura a Carattere Scientifico, Burlo Garofolo Hospital, Trieste, Italy
    Radiology 251:280-6. 2009
    ..thickness by using skin ultrasonography (US) in a series of healthy control subjects and obligate carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2).
  92. doi Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification
    Sueli Matilde da Silva-Costa
    Laboratorio de Genetica Molecular Humana, Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas, Campinas, Brazil
    Genet Test Mol Biomarkers 13:701-4. 2009
    Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c...
  93. doi Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients
    Mortaza Bonyadi
    Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran
    Genet Test Mol Biomarkers 13:689-92. 2009
    Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide...
  94. doi The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
    Juan Rodriguez-Paris
    Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
    Biochem Biophys Res Commun 389:354-9. 2009
    b>Connexin 26 and connexin 30 are the major connexins expressed in the cochlea, where they are co-localized and form heteromeric gap junctions...
  95. pmc Post-translational modifications of connexin26 revealed by mass spectrometry
    Darren Locke
    Department of Pharmacology and Physiology, New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, NJ 07103, USA
    Biochem J 424:385-98. 2009
    Gap junctions play important roles in auditory function and skin biology; mutations in the Cx26 (connexin26) gene are the predominant cause of inherited non-syndromic deafness and cause disfiguring skin disorders...
  96. doi Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia
    Mohammed H Al-Qahtani
    Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia
    Genet Test Mol Biomarkers 14:79-83. 2010
    ..the task of unraveling the genetic causes of hearing loss in Saudi Arabia, starting with identifying the GJB2/DFNB1 mutation spectrum in a cohort of unrelated individuals suffering from mild to profound NSHL...
  97. doi Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss
    Alessandro Terrinoni
    Biochemistry Laboratory, IDI IRCCS, c o Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy
    Biochem Biophys Res Commun 395:25-30. 2010
    ..is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26)...
  98. doi Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss
    Zian Xiao
    Department of Otolaryngology and Head Neck Surgery, Second Xiangya Hospital of Central South University, Changsha, China
    Acta Otolaryngol 131:59-66. 2011
    This study demonstrated that five Cx26 mutations (R32H, S199F, 572delT, 631-632delGT, and Y155X) affect gap junction (GJ) functions by causing impaired membrane targeting and aberrant cellular localization, and one mutation (R165W) leads ..
  99. doi Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant
    Nejat Mahdieh
    Kawsar Human Genetic Research Center, Tehran, Iran
    Genet Test Mol Biomarkers 15:489-93. 2011
    Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations...
  100. doi Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
    Eugene A de Zwart-Storm
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    Exp Dermatol 20:408-12. 2011
    ..gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused by the mutation p...
  101. doi Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect
    Nikolay A Barashkov
    Department of Molecular Genetics, Yakut Scientific Centre of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation
    J Hum Genet 56:631-9. 2011
    ..study, we present data on the molecular, audiological and population features of autosomal recessive deafness 1A (DFNB1A) associated with the donor splicing site IVS1+1G>A mutation of GJB2 gene in Yakut population isolate of the ..

Research Grants64

  1. Thomas W White; Fiscal Year: 2014
    ..For example, mutations in connexin26 (Cx26, or GJB2) cause nonsyndromic deafness, or syndromic deafness associated with a variety of skin disorders including ..
  2. 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. Structure and Dynamics of Gap Junction Channels
    MARK JAY YEAGER; Fiscal Year: 2013
    ..We have now expanded our research to include Cx26, mutations in which are the predominant cause of inherited, nonsyndromic deafness, and Cx40, which forms high ..
  4. Guy A Perkins; Fiscal Year: 2016
    ..For example, Cx26 mutations account for ~1/2 of cases of pre-lingual non-syndromic deafness in Caucasian populations but cases are ..
  5. Xi Lin; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Mutations in connexin26 (Cx26) and Cx30 are the most common causes of hereditary deafness in humans...
  6. Andrew L Harris; Fiscal Year: 2016
    ..We have found that Cx26 channels are modulated by CL-CT interactions...
  7. SiRNA therapeutics: Gap junction delivery in vitro and in vivo
    Richard T Mathias; Fiscal Year: 2013
    ..Previously we determined that gap junctions composed of Cx43 transfer siRNA, whereas those composed of Cx32 or Cx26 will not. Hence channel permeability for siRNA depends on the connexin...
  8. TERRY L DOWD; Fiscal Year: 2015
    ..two common inherited diseases: X-linked Charcot-Marie-Tooth (Cx32) and nonsyndromic and syndromic deafness (Cx26)...
  9. Mutant cochlear connexins associated with deafness
    Guillermo Altenberg; Fiscal Year: 2006
    ..In most cells of the normal cochlea gap-junctional channels are heteromeric assemblies formed by the connexins Cx26 and Cx30...
  10. PROPERTIES OF CONNEXIN CHANNELS THAT CAUSE DEAFNESS
    Andrew Harris; Fiscal Year: 2006
    DESCRIPTION (provided by applicant): Mutations in the connexin26 (Cx26) gene (GJB2) are the predominant cause of inherited syndromic sensorineural deafness in humans...
  11. Function and Expression of Connexins in the pre-Botzinger Complex
    JONATHAN KELTY; Fiscal Year: 2007
    ..The findings a) that neurons within the rodent PBC express at least some Cx, possibly including Cx26, Cx32, and Cx36, and b) that putative gap junction blockers (uncouplers) affect the generation of bursting by the ..
  12. Structure/Function Analysis of Low pl Connexin Isoforms
    ELLIOT HERTZBERG; Fiscal Year: 2003
    ..Mutations in Cx26 underlie the most common forms of non-syndromic deafness...
  13. Connexin Mutations in Deafness
    Thomas White; Fiscal Year: 2003
    Mutations in the human connexin 26 gene (Cx26, or GJB2) are the leading cause of nonsyndromic deafness in the United States. Mutations in two additional connexin genes, Cx30 (GJB6) and Cx3l (GJ63), also produce hearing loss in humans...
  14. VYTAUTAS K VERSELIS; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Mutations in the GJB2 gene that encodes the Cx26 gap junction (GJ) protein are one of the most common causes of inherited deafness in the human population...
  15. CONNEXINS AND CARCINOGENESIS
    Hiroshi Yamasaki; Fiscal Year: 1999
    ..data suggest that co-expression of the Cx32 gene in HeLa cells, the tumorigenicity of which had been suppressed by Cx26 transfection, resulted in removal of this suppression...
  16. ANALYSIS OF CONNEXIN26 IN MOUSE SKIN CARCINOGENESIS
    Irina Budunova; Fiscal Year: 2003
    ..objective of this project is to test this innovative hypothesis using as a model co-expression of incompatible Cx26 (beta2) and Cx43 (alpha1) in keratinocytes...
  17. Auditory Neuroprotection by Small Molecule Agonists of the TrkB Receptor
    Keqiang Ye; Fiscal Year: 2013
    ..The data were acquired from a mouse model of human deafness caused by connexin26 (Cx26) mutations, which is the most common cause of prelingual non-syndromic deafness in humans...
  18. Richard J H Smith; Fiscal Year: 2016
    ..Heterogeneity is high, and to date 77 non-syndromic recessive loci have been identified and numbered sequentially DFNB1 through DFNB77 (DFN, deafness;B, recessive;integer, order of discovery)...
  19. Richard J H Smith; Fiscal Year: 2015
    ..e. GJB2);2) association with another recognizable feature (i.e...
  20. Genetics of Hearing Loss in Middle Eastern Families
    Mary Claire King; Fiscal Year: 2010
    ..In the 156 families with HHI enrolled in our project, GJB2 (connexin 26) is responsible for HHI in only 17 (11%) of families, reflecting the high frequency of HHI due to other genes...
  21. Stefan Heller; Fiscal Year: 2016
    ..Finally, Aim 3 focuses on characterization of gap junctions in supporting cell-like cells derived from DFNB1 patients homozygous for the common GJB2 35delG mutation...
  22. 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)...
  23. Effect of co-assembly on the stability of cochlear gap junctions
    Shoeb Ahmad; Fiscal Year: 2009
    ..Genes coding for Cx26 and Cx30 are the most common cause of hereditary non-syndromic deafness...
  24. STRUCTURE ANALYSIS OF CX26 (BETA2) GAP JUNCTIONS
    Mark Yeager; Fiscal Year: 2001
    ..A complete understanding of how beta2 [Cx26] mutations alter gap junction channel function will only be realized with high resolution structural information...
  25. ELLEN SHIELDS WILCH; Fiscal Year: 2014
    ..Our lab identified and characterized a DFNB1 allele that contains a 131-kb deletion with a proximal breakpoint well away from the transcriptional start sites ..
  26. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    STEVEN DOBROWOLSKI PHD; Fiscal Year: 2010
    ..Evaluate and validate each protocol using fully characterized newborn samples tied to complete. 1 a year medical histories from the Newborn Screening Program of the Statens Serum Institute; ..
  27. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    STEVEN DOBROWOLSKI PHD; Fiscal Year: 2011
    ..Evaluate and validate each protocol using fully characterized newborn samples tied to complete. 1 a year medical histories from the Newborn Screening Program of the Statens Serum Institute; ..
  28. NOVEL TECHNOLOGIES IN NEWBORN SCREENING
    Kenneth Pass; Fiscal Year: 2010
    ..5 mutations);MCADD (5 mutations), biotinidase deficiency (5 mutations);hearing loss due to connexin-26 in the GJB2 gene (3 mutations) (35);and cytomegalovirus virus (3 markers)...
  29. NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK COORD CTR
    MELISSA FORBURGER; Fiscal Year: 2012
    ..5 mutations);MCADD (5 mutations), biotinidase deficiency (5 mutations);hearing loss due to connexin-26 in the GJB2 gene (3 mutations) (35);and cytomegalovirus virus (3 markers)...
  30. NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK COORD CTR
    MELISSA T FORBURGER; Fiscal Year: 2011
    ..5 mutations);MCADD (5 mutations), biotinidase deficiency (5 mutations);hearing loss due to connexin-26 in the GJB2 gene (3 mutations) (35);and cytomegalovirus virus (3 markers)...
  31. NEWBORN SCREEING TRANSLATIONAL RESEARCH NETWORK COORD CTR
    MELISSA T FORBURGER; Fiscal Year: 2010
    ..5 mutations);MCADD (5 mutations), biotinidase deficiency (5 mutations);hearing loss due to connexin-26 in the GJB2 gene (3 mutations) (35);and cytomegalovirus virus (3 markers)...
  32. Outcomes of Cx26 Testing in Deaf/Hard of Hearing Adults
    Christina Palmer; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Genetic testing for deafness is now a reality with the identification of Connexin 26 (Cx26, GJB2) as a cause of up to 50% of nonsyndromic sensorineural deafness...
  33. GENERATION OF MODELS FOR GENETIC HEARING LOSS
    DANA ORTEN; Fiscal Year: 2003
    ..Mutations in the gene for connexin 26 (GJB2) are the most common cause of hearing loss (DFNB1) in American and European populations, accounting for ..
  34. PINEAL GAP JUNCTION--CHARACTERIZATION AND REGULATION
    JUAN SAEZ; Fiscal Year: 1992
    ..b>Connexin 26 is restricted to pinealocytes and connexin 43 is found only in the astrocytes]...
  35. The Human Genome Project and Hearing Loss
    DONNA SORKIN; Fiscal Year: 2001
    ..One speaker, Dr. Heidi Relim of Harvard Medical School, has since authored an article on Connexin 26 testing which will be published in the November/December 2000 issue of Volta Voices, AG Bell's popular magazine...
  36. PITCH HF (CCC) Lead Application
    Marc J Semigran; Fiscal Year: 2013
    ..Study drug, valued at [$54 million], as well as support for the Drug Distribution Center, will be provided as an in-kid gift by [Eli Lilly Inc...
  37. Systematic analysis of cell death regulation in mosquitoes
    Lei Zhou; Fiscal Year: 2009
    ..e. the *Reaper/Hid/Grim -like IAP-antagonists, in the annotated mosquito genomes...
  38. PITCH HF (DCC)
    Flora Sandra Siami; Fiscal Year: 2013
    ..Study drug, valued at [$54 million], as well as support for the Drug Distribution Center, will be provided as an in-kid gift by [Eli Lilly Inc...
  39. Regulation of Synaptic Transmission by Gq
    Michael Ailion; Fiscal Year: 2013
    ..apos;Using similar methods. Aim 4 will identify and characterize new molecules acting in a pathway with HID-1, in parallel to the RAB-2 pathway to regulate DCV trafficking...
  40. PPK Dependent Acidocalcisome-like Granules, Polyphosphates and Helicobacter
    Manfredo J Seufferheld; Fiscal Year: 2010
    ....
  41. The role of ppk ion channels in sensory detection
    KRISTIN E SCOTT; Fiscal Year: 2010
    ..In Drosophila, there are 29 members of this gene family called pickpocket genes (ppk)...
  42. Induction of Programmed Cell Death by cellular Mis-specification
    Andreas Bergmann; Fiscal Year: 2010
    ..The cell death-inducing gene hid is specifically up-regulated in mis-specified cells, suggesting that mis-specification-induced cell death is the ..
  43. A New Approach to Vision Therapy Based on Naturalistic 3-D Computer Gaming
    B Eugene Parker; Fiscal Year: 2013
    ..Due to the popularity of video gaming, HID technology that would have been prohibitively expensive in the recent past is now widely available at low cost (e.g...
  44. Roles for HIC1 in neural development and tumor suppression
    DAVID NEIL WATKINS; Fiscal Year: 2010
    ..3. Epigenetic silencing of HIC1 is a frequent event in human cancer, and mice heterozygous for Hid develop cancers associated with hypermethylation of the wild type allele...
  45. Apoptosis in Drosophila-From Reaper to Death
    Kristin White; Fiscal Year: 2011
    ..The Reaper gene is one of a cluster of cell death regulatory genes including grim, sickle and hid. We are dissecting this region in order to understand how the expression of cell death genes is coordinately ..
  46. Epidemiology and Prevention of Abusive Abdominal Trauma in Children
    WENDY GWIRTZMAN LANE; Fiscal Year: 2012
    ..Data from several sources will be used. The KID Inpatient Database, a national sample of pediatric hospitalizations, will be used to examine the incidence of overt ..
  47. Integrated Cheminformatics Resource for Orphan Neurodegenerative Diseases
    Weifan Zheng; Fiscal Year: 2012
    ..The second tool (SB-PPK) generates structure-based descriptors for organic molecules...
  48. Jacqueline R Starr; Fiscal Year: 2014
    ..the volume-outcome association for orofacial cleft repair procedures by analyzing the Kids'Inpatient Database (KID), a large administrative dataset available through the Agency for Health Research and Quality...
  49. Balpreet Bhogal; Fiscal Year: 2014
    ..larvae arise partially from an increase in expression of the pro-apoptotic factor Head involution defective (Hid)...
  50. Transition Pathways for Biomolecular Systems: Theory and Computation
    Robert D Skeel; Fiscal Year: 2010
    ..By employing advanced sampling methods, the method will be applied to larger systems such as KID:KIX and cMyb:KIX complexes involved in DNA transcription...
  51. Monica S Vavilala; Fiscal Year: 2014
    ..5 pediatric trauma centers and the Healthcare Cost and Utilization Project's (HCUP) child inpatient database (KID) will show that there is unwanted and remediable variability in the degree of adherence to the Pediatric Guidelines...
  52. CONtrolling Disease Using Inexpensive IT Hypertension in Diabetes: CONDUIT-HID
    Barry G Saver; Fiscal Year: 2013
    ..Lastly, we will compare our study and findings to other, recent studies using HIT to improve hypertension control and develop a set of best practices and recommendations for future efforts in this area. ..
  53. Islet Protection from Hypoxia Posttransplant
    Klearchos K Papas; Fiscal Year: 2010
    ..Effective protection of transplanted islets from hypoxia-induced death (HID) has the potential to greatly enhance the success rate of ITx...
  54. Federated Database, Protocols, and Tools for Arterial Spin Labeling CBF Measures
    Thomas T Liu; Fiscal Year: 2013
    ..infrastructure tools, such as the Storage Resource Broker (SRB) for data storage and the Human Imaging Database (HID) environment for the storage, querying, and browsing of subject and image metadata...
  55. Erica Warp; Fiscal Year: 2014
    ..Neuroscience is not emphasized in the K-12 public school curriculum and there is a particular lack of kid-friendly learning tools on neuroscience for 7-11 year olds...
  56. Metotic Spindle Assembly and Aneuploidy in Mammals
    Duane Compton; Fiscal Year: 2003
    ..we propose to use transgenic mouse technology to specifically perturb the function of the kinesin-related proteins Kid and MCAK during female meiosis...
  57. PPK: Radiation Response and Cell Proliferation
    Peter Stambrook; Fiscal Year: 2006
    ..abstract_text> ..
  58. Measuring pediatric inpatient medication use
    Tamar Lasky; Fiscal Year: 2009
    ..database to characteristics of the HCUP KID 2006 national data base of pediatric hospitalizations, a probability based sample of pediatric hospitalizations;and ..
  59. An LC-TOF for Accurate Molecular Mass Determinations
    Philip DeShong; Fiscal Year: 2004
    ..These features of the ADC allow analysis of true isotope distributions, including HID exchange product correlation of signal to sample size, e.g. through four orders of magnitude with an R=0.998...
  60. CD Vocabulary Instruction for Students with Disabilities
    Paula Lancaster; Fiscal Year: 2009
    ..IM) format for providing comprehensive vocabulary instruction to students with high incidence disabilities (HID)...
  61. INITIATION OF CELL DEATH BY POTASSIUM CHANNEL BLOCK
    Linda Iverson; Fiscal Year: 2004
    ..Three Drosophila genes, reaper, grim, and hid, trigger apoptotic cell death in a number of different contexts, yet the mechanism by which they act is unknown...
  62. Molecular Endocrinology of Gene Regulation By cAMP
    Sarah Bronson; Fiscal Year: 2005
    ..signals activate a variety of protein kinases that phosphorylate Ser 133 in the kinase inducible domain (KID) of CREB and enhance transcription activation...