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
Species: human

Top Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications252 found, 100 shown here

  1. 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 ..
  2. 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...
  3. 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...
  4. 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...
  5. 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.
  6. 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...
  7. 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 ..
  8. 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...
  9. 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...
  10. 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.
  11. 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)...
  12. 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 ..
  13. 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...
  14. 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 ..
  15. 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...
  16. 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...
  17. 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...
  18. 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)...
  19. 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 ..
  20. 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...
  21. 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...
  22. 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...
  23. 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
    ..For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin ..
  24. 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...
  25. 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.
  26. 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
    ..leading to substitution of conserved residues in the cytoplasmic amino terminus or first extracellular domain of Cx26. One of these mutations was detected in six unrelated sporadic case subjects and also segregated in one family with ..
  27. 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)...
  28. 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 ..
  29. 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...
  30. 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...
  31. 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 ..
  32. 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...
  33. 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...
  34. 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...
  35. 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 ..
  36. 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...
  37. 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...
  38. 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.
  39. 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...
  40. 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.
  41. 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...
  42. 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...
  43. 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 ..
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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...
  51. 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...
  52. 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...
  53. 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.
  54. 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...
  55. 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...
  56. 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
  57. 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...
  58. 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).
  59. 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...
  60. 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.
  61. 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...
  62. 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...
  63. 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...
  64. 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 ..
  65. 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 ..
  66. 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...
  67. 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...
  68. 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...
  69. 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 ..
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. ncbi Connexin 26 correlates with Bcl-xL and Bax proteins expression in colorectal cancer
    Luiza Kanczuga-Koda
    Department of Pathology, Medical University of Bialystok, Waszyngtona 13, 15 269 Bialystok, Poland
    World J Gastroenterol 11:1544-8. 2005
    To evaluate of Cx26 in correlation with Bcl-xL and Bax proteins in colorectal cancer.
  75. doi GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations
    A Pollak
    J Med Genet 45:607-8. 2008
  76. 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...
  77. 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...
  78. ncbi Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population
    P Seeman
    Department of Child Neurology DNA laboratory, Charles University Prague, 2nd School of Medicine, V Uvalu 84, 150 06 Praha 5, Czech
    Ann Hum Genet 69:9-14. 2005
    Mutations in the GJB2 gene are the most common cause of prelingual, autosomal recessive, sensorineural hearing loss worldwide...
  79. ncbi GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
    Andreas R Janecke
    Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schopfstrasse 41, A 6020 Innsbruck, Austria
    Am J Med Genet A 133:128-31. 2005
    ..Germline missense mutations in GJB2, encoding connexin-26, were recently found to cause KID in 14 unrelated juvenile and adult patients...
  80. 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...
  81. 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...
  82. 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
  83. 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...
  84. 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...
  85. 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...
  86. 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...
  87. 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...
  88. ncbi Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
    S Yotsumoto
    Department of Dermatology, Kagoshima University Faculty of Medicine, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
    Br J Dermatol 148:649-53. 2003
    Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome.
  89. doi Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation
    Alessandro Terrinoni
    Biochemistry Laboratory, IDI IRCCS, c o Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    Biochem Biophys Res Commun 394:909-14. 2010
    The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness...
  90. 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...
  91. 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)...
  92. 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.
  93. 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...
  94. 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...
  95. 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 ..
  96. ncbi Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria
    Klemens Frei
    Department of Otorhinolaryngology, Medical University of Vienna, AKH 8J, Waehringer Gurtel 18 20, Vienna A 1090, Austria
    Hear Res 196:115-8. 2004
    ..Genes such as the gap junction protein beta 2 (GJB2) encoding for Connexin (Cx26) and GJB6 (Cx30) are known to cause sensorineural deafness...
  97. ncbi [The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss]
    Joanna Wiszniewska
    Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17a, 01 211 Warszawa, Poland
    Med Wieku Rozwoj 6:309-18. 2002
    The GJB2 gene defects are the most frequent cause of autosomal recessive non-syndromic hearing loss (DFNB1). Epidemiological data suggest that 35delG is the most prevalent mutation found in 88% of mutated alleles...
  98. 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.
  99. 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...
  100. 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...
  101. ncbi Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness
    Hsiao Lin Hwa
    Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
    Genet Med 5:161-5. 2003
    To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects.

Research Grants64

  1. Cx26 mutations in syndromic deafness linked to skin disease
    Thomas W White; Fiscal Year: 2010
    ..For example, mutations in connexin26 (Cx26, or GJB2) cause nonsyndromic deafness, or syndromic deafness associated with a variety of skin disorders including ..
  2. Connexin Mutations in Deafness
    Thomas White; Fiscal Year: 2007
    Mutations in the human connexin26 gene (Cx26, or GJB2) are the leading cause of nonsyndromic deafness in the United States...
  3. Mouse models for human deafness caused by diverse types of connexin26 mutations
    Xi Lin; Fiscal Year: 2007
    ..g., nutrients and signaling molecules) couplings. Genetic studies have linked more than 100 mutations in the Cx26 gene to a large proportion of prelingual nonsyndromic deafness...
  4. 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...
  5. PROPERTIES OF CONNEXIN CHANNELS THAT CAUSE DEAFNESS
    Andrew Harris; Fiscal Year: 2006
    Mutations in the connexin26 (Cx26) gene (GJB2) are the predominant cause of inherited syndromic sensorineural deafness in humans...
  6. 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 ..
  7. Internalization of gap junctions as a regulatory mechanism of direct GJIC
    Matthias M Falk; Fiscal Year: 2010
    ..Human mutations in several Cxs (including Cx26, Cx30, Cx30...
  8. STRUCTURE-FUNCTION STUDIES OF GAP JUNCTIONS
    THADDEUS BARGIELLO; Fiscal Year: 1993
    ..We will focus our initial investigations on two vertebrate connexins Cx26 and Cx32...
  9. MECHANISMS OF GATING AND PERMEATION IN GAP JUNCTIONS
    VYTAUTAS VERSELIS; Fiscal Year: 2000
    ..Recently, we identified a charge complex in two closely related Group I connexins, Cx32 and Cx26, that appears to be part of the transjunctional voltage, Vj, sensor and we proposed a molecular mechanism of gating ..
  10. 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...
  11. Role of connexins in cochlear functions
    Xi Lin; Fiscal Year: 2007
    ..approach to test the HYPOTHESIS that biochemical coupling mediated by heteromultimeric GJs assembled from Cx26 and Cx30 in the cochlea is required for normal hearing in mice...
  12. Role of connexins in cochlear functions
    Xi Lin; Fiscal Year: 2010
    ..approach to test the HYPOTHESIS that biochemical coupling mediated by heteromultimeric GJs assembled from Cx26 and Cx30 in the cochlea is required for normal hearing in mice...
  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. 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...
  15. STRUCTURE AND DYNAMICS OF CONNEXIN26 GAP JUNCTIONS
    GINA SOSINSKY; Fiscal Year: 2007
    ..Here, we focus on the structure and function of connexin26 (Cx26), the smallest of the family...
  16. 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)...
  17. Outcomes of Cx26 Testing in Deaf/Hard of Hearing Adults
    Christina Palmer; Fiscal Year: 2009
    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...
  18. Outcomes of Cx26 Testing in Deaf/Hard of Hearing Adults
    Christina Palmer; Fiscal Year: 2007
    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...
  19. Effect of co-assembly on the stability of cochlear gap junctions
    Shoeb Ahmad; Fiscal Year: 2007
    ..Genes coding for Cx26 and Cx30 are the most common cause of hereditary non-syndromic deafness...
  20. Genetic Deafness in the Alumni of Gallaudet University
    Kathleen Arnos; Fiscal Year: 2007
    ..recessive mutations at a single locus, DFNB1, involving the GJB2 gene, which encodes the gap junction protein connexin 26, account for 30-40 percent of all cases. In 1898, E.A...
  21. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard Smith; Fiscal Year: 2009
    ..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)...
  22. Non-Syndromic Hearing Loss -- A Collaborative Study
    Richard J Smith; Fiscal Year: 2010
    ..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)...
  23. Auditory Neuroprotection by Small Molecule Agonists of the TrkB Receptor
    Keqiang Ye; Fiscal Year: 2010
    ..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...
  24. Auditory Neuroprotection by Small Molecule Agonists of the TrkB Receptor
    Keqiang Ye; Fiscal Year: 2010
    ..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...
  25. 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 ..
  26. STRUCTURE/FUNCTION STUDIES OF GAP JUNCTIONS
    THADDEUS BARGIELLO; Fiscal Year: 2000
    Gap junctions formed by Cx26 and Cx32, although closely related in sequence, display significant differences in sensitivity to transjunctional voltage (vi) and in single channel conductance...