GJB2

Summary

Gene Symbol: GJB2
Description: gap junction protein, beta 2, 26kDa
Alias: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, connexin 26, gap junction beta-2 protein, gap junction protein beta 2, 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. 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
  3. 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
  4. pmc A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
    E Wilch
    Genetics Program, Michigan State University, East Lansing, MI 48824, USA
    Clin Genet 78:267-74. 2010
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications272 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. 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...
  3. 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...
  4. pmc A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
    E Wilch
    Genetics Program, Michigan State University, East Lansing, MI 48824, USA
    Clin Genet 78:267-74. 2010
    ..were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG ..
  5. 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 ..
  6. 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...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. pmc Clinical significance of the expression of connexin26 in colorectal cancer
    Shinya Nomura
    Department of Surgical Oncology, Osaka City University Graduate School of Medicine, 1 5 7 Asahimachi Abeno ku, Osaka 545 8585, Japan
    J Exp Clin Cancer Res 29:79. 2010
    Connexin26 (Cx26) is one of the connexins (Cxs) family members which form gap junction channels. Cx26 is considered to be a tumor suppressor gene...
  12. ncbi Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population
    Yuhe Liu
    Department of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China
    J Hum Genet 47:688-90. 2002
    The connexin26 gene ( GJB2) has been shown to be responsible for DFNB1 and DFNA3 (Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3)...
  13. 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...
  14. 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...
  15. ncbi A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad
    Jay R Montgomery
    USN, National Naval Medical Center, Bethesda, Maryland 20889, USA
    J Am Acad Dermatol 51:377-82. 2004
    ..mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein...
  16. ncbi Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing
    Johanna M Brandner
    Department of Dermatology and Venerology, University Hospital Hamburg Eppendorf, Hamburg, Germany
    J Invest Dermatol 122:1310-20. 2004
    ..We analyzed the staining patterns of the GJ proteins Cx26, Cx30, and Cx43 in human cutaneous wound healing and compared ex vivo spontaneous wound healing to non-healing ..
  17. 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 ..
  18. 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...
  19. pmc Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule
    Atsunori Oshima
    Department of Biophysics, Faculty of Science, Kyoto University, Oiwake, Kitashirakawa, Sakyo ku, Kyoto 606 8502, Japan
    Proc Natl Acad Sci U S A 104:10034-9. 2007
    ..Connexin26 (Cx26) is the second smallest member of the gap junction protein family, and mutations in Cx26 cause certain hereditary ..
  20. 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)...
  21. pmc Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics
    Francesco Zonta
    Department of Physics and Astronomy G Galilei, University of Padua, 35129 Padua, Italy
    J Biomol Struct Dyn 29:985-98. 2012
    Mutations in the genes GJB2 and GJB6 encoding human connnexin26 (hCx26) and connexin30 (hCx30), respectively, are the leading cause of non-syndromic prelingual deafness in several human populations...
  22. pmc Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients
    K Y Lee
    Department of Otolaryngology, College of Medicine, Kyungpook National University, Deagu 702 701, Republic of Korea
    Int J Pediatr Otorhinolaryngol 72:1301-9. 2008
    Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing loss in a number of populations. However, little is known about the genetic causes of hearing loss in the Korean population.
  23. ncbi Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment
    Joy Samanich
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Am J Med Genet A 143:830-8. 2007
    ..Approximately half result from mutations in the connexin 26 (Cx26) gene, GJB2, in Caucasian populations...
  24. ncbi High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss
    Vassos Neocleous
    Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    Genet Test 10:285-9. 2006
    Mutations in the GJB2 (Connexin 26) gene are responsible for more than half of all cases of prelingual, recessive, inherited, nonsyndromic deafness in Europe...
  25. 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...
  26. 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...
  27. 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...
  28. 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.
  29. 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...
  30. 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 ..
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. pmc A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
    L Morle
    Centre de Genetique Moleculaire et Cellulaire, CNRS UMR 5534, Universite Claude Bernard Lyon I, 43 Boulevard du 11 Novembre 1918, 69622 Villeurbanne, France
    J Med Genet 37:368-70. 2000
    Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss...
  38. 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...
  39. 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 ..
  40. 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...
  41. 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 ..
  42. 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 ..
  43. 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...
  44. 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...
  45. 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...
  46. doi Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26
    Ingo Todt
    Department of Otolaryngology, Unfallkrankenhaus Berlin, Charite Medical School, Berlin, Germany
    Clin Genet 76:404-8. 2009
    ..Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete ..
  47. 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...
  48. ncbi Overexpression of connexin 26 in carcinoma of the pancreas
    Naganori Kyo
    Department of Surgery, Gastroenterological Surgery, Graduate School of Medicine, Osaka University, Osaka 565 0871, Japan
    Oncol Rep 19:627-31. 2008
    Contrary to the previously purported role of gap junction (GJ) associated-protein connexin 26 (Cx26) as a tumor suppressor, increased expression of Cx26 has recently been demonstrated in several human malignancies...
  49. doi High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients
    Dongye Chen
    Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China
    ORL J Otorhinolaryngol Relat Spec 71:212-5. 2009
    The GJB2 gene, mapping to chromosome 13q12, encodes a gap junction protein, connexin 26, and is responsible for certain forms of congenital deafness, such as DFNB1 and DFNA3...
  50. 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...
  51. doi Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment
    Seema Bhalla
    Department of Otolaryngology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
    Biochem Biophys Res Commun 385:445-8. 2009
    Mutations at the DFNB1 locus which encode connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively, are main cause for sporadic and familial non-syndromic hearing impairment (NSHI) in many populations...
  52. pmc A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness
    Eugene A de Zwart-Storm
    Department of Dermatology, University Medical Center Maastricht, Maastricht, The Netherlands
    Am J Pathol 173:1113-9. 2008
    ..In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein...
  53. 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).
  54. 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...
  55. 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...
  56. doi Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population
    Omar Abidi
    Laboratory of Human Genetics, Department of Scientific Research, Pasteur Institute, Casablanca, Morocco
    Genet Test 12:569-74. 2008
    Mutations in the Connexin 26 gene (GJB2/Cx26) are responsible for more than half of all cases of prelingual nonsyndromic recessive deafness in Caucasians...
  57. ncbi Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor Setar
    B H I Ruszymah
    Department of Physiology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Raja Muda Abdul Aziz, Kuala Lumpur
    Med J Malaysia 60:269-74. 2005
    Twenty percent of all childhood deafness is due to mutations in the GJB2 gene (Connexin 26). The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in childhood deafness in Malaysia...
  58. 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...
  59. 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
  60. 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.
  61. 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...
  62. 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 ..
  63. ncbi Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    D P Kelsell
    Academic Department of Dermatology, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Nature 387:80-3. 1997
    ..of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family...
  64. pmc Conformational changes in surface structures of isolated connexin 26 gap junctions
    Daniel J Muller
    Max Planck Institute of Molecular Cell Biology and Genetics and BIOTEC, Technical University Dresden, Dresden, Germany
    EMBO J 21:3598-607. 2002
    ..microscopy (AFM), we have imaged conformational changes of the cytoplasmic and extracellular surfaces of native connexin 26 gap junction plaques...
  65. 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...
  66. pmc Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Hum Genet 70:1341-8. 2002
    ..Here, we provide compelling evidence that KID is caused by heterozygous missense mutations in the connexin-26 gene, GJB2. In each of 10 patients with KID, we identified a point mutation leading to substitution of conserved residues in ..
  67. ncbi SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
    Sebastien Albert
    Service d ORL et de Chirurgie Cervico faciale, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
    Eur J Hum Genet 14:773-9. 2006
    ..SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population.
  68. ncbi Connexin-26 mutations in sporadic and inherited sensorineural deafness
    X Estivill
    Department de Genetica, Centre de Genètica Mèdica i Molecular, Hospital Duran i Reynals, L Hospitalet, Barcelona, Catalonia, Spain
    Lancet 351:394-8. 1998
    ..Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in about 80% of Mediterranean families and that the ..
  69. 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...
  70. 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...
  71. ncbi A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
    Girish V Putcha
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    Genet Med 9:413-26. 2007
    The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic ..
  72. 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...
  73. pmc Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome
    Helmuth A Sánchez
    Dominick P Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    J Gen Physiol 136:47-62. 2010
    Mutations in GJB2, which encodes Cx26, are one of the most common causes of inherited deafness in humans...
  74. 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.
  75. 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 ..
  76. ncbi Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients
    J Mazereeuw-Hautier
    Service de Dermatologie, Hopital Rangueil, TSA 50032, Toulouse, France
    Br J Dermatol 156:1015-9. 2007
    ..KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2).
  77. 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 ..
  78. 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...
  79. doi Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
    Sung Hee Han
    Division of Molecular Genetics, Department of Laboratory Medicine, Seoul Clinical Laboratories, Seoul Medical Science Institute, 7 14, Dongbingo dong, Yongsan gu, Seoul, South Korea
    J Hum Genet 53:1022-8. 2008
    Mutations in the GJB2 gene are associated with hereditary hearing loss. Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population...
  80. 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...
  81. 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)...
  82. 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
    ..Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship...
  83. doi A large cohort study of GJB2 mutations in Japanese hearing loss patients
    K Tsukada
    Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
    Clin Genet 78:464-70. 2010
    b>GJB2 is the gene most frequently associated with hereditary hearing loss, and the GJB2 mutation spectrums vary among different ethnic groups...
  84. 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...
  85. doi GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf
    Mustafa Tekin
    The Dr John T Macdonald Foundation Department of Human Genetics, University of Miami, Leonard M Miller School of Medicine, Miami, Florida 33136, USA
    Ann Hum Genet 74:155-64. 2010
    ..V27I;E114G] disturbs the gap junction function of Cx26, the equal distribution of this complex allele in both deaf probands and hearing controls makes it a less likely ..
  86. ncbi Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling
    S Marlin
    Service d ORL Pédiatrique et de Chirurgie Cervicofaciale, Hopital d Enfants Armand Trousseau, and Université Paris VI, Paris Cedex 05, France
    Arch Otolaryngol Head Neck Surg 127:927-33. 2001
    To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene (CX26 or GJB2) mutations.
  87. 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...
  88. 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 ..
  89. 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...
  90. doi Aberrant expression of connexin 26 is associated with lung metastasis of colorectal cancer
    Koji Ezumi
    Department of Surgery, Gastroenterological Surgery, Graduate School of Medicine, Osaka University, Yamada oka, Suita City, Osaka, Japan
    Clin Cancer Res 14:677-84. 2008
    b>Connexin 26 (Cx26) is one of the gap junction-forming family members classically considered to be tumor suppressors...
  91. 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...
  92. pmc GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment
    Pu Dai
    Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
    J Transl Med 7:26. 2009
    Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.
  93. 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...
  94. 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)...
  95. 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 ..
  96. doi Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia
    Lilya U Dzhemileva
    Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Bashkortostan, Russian Federation
    J Hum Genet 55:749-54. 2010
    ..b>GJB2 gene mutations make the largest contribution to hereditary hearing impairment...
  97. 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...
  98. doi A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss
    Delphine Feldmann
    Laboratoire de Biochimie, INSERM, U587, Centre de Référence des Surdités Génétiques, AP HP, Hopital Armand Trousseau, 26 avenue du Docteur Arnold Netter, 75012 Paris, France
    Eur J Med Genet 52:195-200. 2009
    Mutations in the GJB2 gene encoding the gap junction protein connexin 26 are responsible for up to 30% of all cases of autosomal recessive nonsyndromic hearing impairment (HI) with prelingual onset in most populations...
  99. 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...
  100. ncbi Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
    D A Scott
    Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
    Hum Mutat 11:387-94. 1998
    Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12...
  101. 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...

Research Grants64

  1. Cx26 mutations in syndromic deafness linked to skin disease
    Thomas W White; Fiscal Year: 2013
    ..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. STRUCTURE AND DYNAMICS OF CONNEXIN26 GAP JUNCTIONS
    Gina E Sosinsky; Fiscal Year: 2013
    ..For example, Cx26 mutations account for ~1/2 of cases of pre-lingual non-syndromic deafness in Caucasian populations but cases are ..
  5. Role of connexins in cochlear functions
    Xi Lin; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Mutations in connexin26 (Cx26) and Cx30 are the most common causes of hereditary deafness in humans...
  6. Regulation of Cx26 and Cx32 Channels by Cytosolic Interdomain Interactions
    Andrew L Harris; Fiscal Year: 2013
    ..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. Structure-Function relation of Connexin disease mutations
    TERRY L DOWD; Fiscal Year: 2013
    ..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. MECHANISMS OF GATING AND PERMEATION IN GAP JUNCTIONS
    VYTAUTAS K VERSELIS; Fiscal Year: 2013
    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...
  14. 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...
  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. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard J H Smith; Fiscal Year: 2013
    ..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. Optimizing Genetic Testing for Deafness for Clinical Diagnostics
    Richard J H Smith; Fiscal Year: 2013
    ..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. Patient derived sensory hair- and supporting cell-like cells
    Stefan Heller; Fiscal Year: 2013
    ..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. Discovery of GJB2 cis-regulatory elements and missing DFNB1 mutation
    ELLEN SHIELDS WILCH; Fiscal Year: 2013
    ..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. 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)...
  29. 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)...
  30. 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)...
  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. Hospital Volume for Orofacial Cleft Repair and Risk of Complications
    Jacqueline R Starr; Fiscal Year: 2013
    ..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. Regulation of dendrite morphogenseis by Nanos and Pumilio
    Balpreet Bhogal; Fiscal Year: 2013
    ..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. Implementation Science to Increase Use of Evidence Based Pediatric Brain Injury G
    Monica S Vavilala; Fiscal Year: 2013
    ..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. Ned the Neuron: mobile, interactive neuroscience education for kids
    Erica Warp; Fiscal Year: 2013
    ..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...