Gjb2

Summary

Gene Symbol: Gjb2
Description: gap junction protein, beta 2
Alias: CXN-26, Cx26, gap junction beta-2 protein, connexin 26, gap junction channel protein connexin 26, gap junction membrane channel protein beta 2
Species: rat

Top Publications

  1. doi The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome
    Melanie Schütz
    Institut for Genetik, Rheinische Friedrich Wilhelms Universitat Bonn, Bonn, Germany
    Hum Mol Genet 20:28-39. 2011
  2. 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
  3. doi A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
    Tamara Lazic
    Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA
    Pediatr Dermatol 25:535-40. 2008
  4. ncbi A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 8:1237-43. 1999
  5. 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
  6. ncbi Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
    George Bakirtzis
    Section of Squamous Cell Biology and Dermatology, Division of Cancer Sciences and Molecular Pathology, Robertson Building, University of Glasgow, Glasgow G12 8QQ, Scotland, UK
    Hum Mol Genet 12:1737-44. 2003
  7. doi New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
    Sandra Iossa
    Unit of Audiology, Department of Neurosciences, University of Naples Federico II, Naples, Italy
    Am J Med Genet A 149:685-8. 2009
  8. ncbi Molecular profiling and cellular localization of connexin isoforms in the rat ciliary epithelium
    Kirsten L Coffey
    Disciplines of Physiology, School of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
    Exp Eye Res 75:9-21. 2002
  9. ncbi CpG site hypermethylation of E-cadherin and Connexin26 genes in hepatocellular carcinomas induced by a choline-deficient L-Amino Acid-defined diet in rats
    Toshifumi Tsujiuchi
    Laboratory of Cancer Biology and Bioinformatics, Department of Life Science, Faculty of Science and Engineering, Kinki University, Higashiosaka, Osaka, Japan
    Mol Carcinog 46:269-74. 2007
  10. ncbi Connexins 43 and 26 are differentially increased after rat bladder outlet obstruction
    Jacques Antoine Haefliger
    Department of Internal Medicine, University Hospital, Lausanne, CHUV 1011, Switzerland
    Exp Cell Res 274:216-25. 2002

Scientific Experts

  • Ruth Gruemmer
  • A Wonkam
  • I C Solomon
  • Jacques Antoine Haefliger
  • Alessandro Terrinoni
  • Gabriele Richard
  • Elona Cama
  • E Maestrini
  • Johan Jäderstad
  • Darren Locke
  • Frederic Mercier
  • JOHN RASH
  • B Risek
  • Xue Z Liu
  • K Frei
  • T Muramatsu
  • Laura A B Elias
  • Cinzia Ambrosi
  • Cécile Adam
  • Toshifumi Tsujiuchi
  • Masataka Sunagawa
  • Kyoko Shimizu
  • Brian Meckes
  • N Prera
  • Shu Juan Jiang
  • Xia Wu
  • Tiago Daniel Matos
  • So Young Kim
  • Zied Riahi
  • Yoichiro Takiguchi
  • R Grummer
  • Gina E Sosinsky
  • E Sukarova Stefanovska
  • Seyed Basir Hashemi
  • Diana P Popova
  • Suvarna Dash-Wagh
  • Chun Liang
  • P Hu
  • Yajie Lu
  • Melanie Schütz
  • Gulistan Mese
  • Seema Bhalla
  • Alice Ly
  • Francisco J del Castillo
  • Luis Pablo Gravina
  • Jordan B Hochman
  • Daniel G Cyr
  • Sandra Iossa
  • E A de Zwart-Storm
  • Tamara Lazic
  • Eugene A de Zwart-Storm
  • Virginijus Valiunas
  • Peter R Brink
  • E Winterhager
  • O Traub
  • Stephanie Langlois
  • Kanya Honoki
  • Yumi Itsuzaki
  • Hiromasa Fujii
  • Wei Chung Hsu
  • Joanna Gemel
  • Julie Dufresne
  • George Bakirtzis
  • Norifumi Sawada
  • Lori A Birder
  • Karl Erik Andersson
  • Amanda Wolf-Johnston
  • Tadashi Hisamitsu
  • Masanori Nomiya
  • Yu Sun
  • Heather Barnard
  • Shu Qin Li
  • Weijia Kong
  • Sen Chen
  • Xiang Huang
  • E Lohle
  • Dan Huang
  • Yuan Yuan Zhang
  • Rong He
  • Jiu Bin Zhang
  • Xi Lin
  • Kirsten L Coffey
  • Zheng Hong Di
  • Ratnesh Lal
  • R Birkenhäger
  • T Kojima
  • Ling Shen
  • Shuai Zhang
  • Fernando Teran Arce
  • Yanjun Wang

Detail Information

Publications72

  1. doi The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome
    Melanie Schütz
    Institut for Genetik, Rheinische Friedrich Wilhelms Universitat Bonn, Bonn, Germany
    Hum Mol Genet 20:28-39. 2011
    Mutations in the GJB2 gene coding for connexin26 (Cx26) can cause a variety of deafness and hereditary hyperproliferative skin disorders in humans...
  2. 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...
  3. doi A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
    Tamara Lazic
    Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA
    Pediatr Dermatol 25:535-40. 2008
    ..Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome...
  4. ncbi A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    E Maestrini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Hum Mol Genet 8:1237-43. 1999
    ..Mutations in the connexin26 (Cx26) gene ( GJB2 ) at 13q11-q13 are a major cause of autosomal recessive hearing loss (DFNB1), but have also been reported in ..
  5. ncbi Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 123:856-63. 2004
    ..lies within a cluster of pathogenic GJB2 mutations affecting the evolutionary conserved first extracellular loop of Cx26 important for docking of connexin hemichannels and voltage gating...
  6. ncbi Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
    George Bakirtzis
    Section of Squamous Cell Biology and Dermatology, Division of Cancer Sciences and Molecular Pathology, Robertson Building, University of Glasgow, Glasgow G12 8QQ, Scotland, UK
    Hum Mol Genet 12:1737-44. 2003
    ..role of connexins in dominantly inherited skin disease, transgenic mice were produced which expressed mutant connexin 26 [gjb2/connexin 26(D66H)], from a keratin 10 promoter, exclusively in the suprabasal epidermis (the cells in ..
  7. doi New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
    Sandra Iossa
    Unit of Audiology, Department of Neurosciences, University of Naples Federico II, Naples, Italy
    Am J Med Genet A 149:685-8. 2009
    The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant ..
  8. ncbi Molecular profiling and cellular localization of connexin isoforms in the rat ciliary epithelium
    Kirsten L Coffey
    Disciplines of Physiology, School of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
    Exp Eye Res 75:9-21. 2002
    ..This enabled Cx26 and 31 to be specifically localized to spatially different gap junctions between NPE cells...
  9. ncbi CpG site hypermethylation of E-cadherin and Connexin26 genes in hepatocellular carcinomas induced by a choline-deficient L-Amino Acid-defined diet in rats
    Toshifumi Tsujiuchi
    Laboratory of Cancer Biology and Bioinformatics, Department of Life Science, Faculty of Science and Engineering, Kinki University, Higashiosaka, Osaka, Japan
    Mol Carcinog 46:269-74. 2007
    We investigated DNA methylation patterns of E-cadherin and Connexin26 (Cx26) genes in rat hepatocellular carcinomas (HCCs) induced by a choline-deficient L-Amino Acid-defined (CDAA) diet...
  10. ncbi Connexins 43 and 26 are differentially increased after rat bladder outlet obstruction
    Jacques Antoine Haefliger
    Department of Internal Medicine, University Hospital, Lausanne, CHUV 1011, Switzerland
    Exp Cell Res 274:216-25. 2002
    ..by fluid pressure, we have studied the effects of elevated transmural urine pressure on Connexin43 (Cx43) and Cx26. We chose to focus on these two proteins out of the five connexins (Cx26, 43, 40, 37, and 45) which we found by RT-..
  11. ncbi Localization of connexin26 and connexin32 in putative CO(2)-chemosensitive brainstem regions in rat
    I C Solomon
    Department of Physiology and Biophysics, State University of New York, Basic Science Tower, Health SC Center, Level 6, Rm 140, Stony Brook, NY 11794 8661, USA
    Respir Physiol 129:101-21. 2001
    ..to investigate the presence, distribution, and cellular localization of the gap junction proteins connexin26 (Cx26) and connexin32 (Cx32) in putative CO(2)-chemosensitive brainstem regions in both neonatal and adult rats...
  12. ncbi Connexin 26 and basic fibroblast growth factor are expressed primarily in the subpial and subependymal layers in adult brain parenchyma: roles in stem cell proliferation and morphological plasticity?
    F Mercier
    Department of Neuroscience, University of California, Riverside, CA 92521, USA
    J Comp Neurol 431:88-104. 2001
    The gap junction protein connexin 26 (Cx26) has been detected previously in the parenchyma of the developing brain and in the developing and adult meninges, but there is no clear evidence for the presence of this connexin in adult brain ..
  13. ncbi Developmental expression patterns of connexin26 and -30 in the rat cochlea
    J Lautermann
    Department of Oto Rhino Laryngology, University of Essen, Essen, Germany
    Dev Genet 25:306-11. 1999
    ..In the cochlea of a 22-week-old human embryo, connexin26 and connexin30 could be detected in the lateral wall, suggesting that both connexins also play a crucial role in function of the human inner ear...
  14. ncbi Modulation of gap junction expression during transient hyperplasia of rat epidermis
    B Risek
    Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Cell Sci 111:1395-404. 1998
    ..retinoic acid (RA) and 12-O-tetradecanoylphorbol-13-acetate (TPA) on the expression of alpha1 (Cx43) and beta2 (Cx26) connexins, the two major gap junction gene products in mature rat epidermis...
  15. pmc Urinary bladder mucosal responses to ischemia
    Masataka Sunagawa
    Departments of Medicine, University of Pittsburgh School of Medicine, A 1217 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA, 15261, USA
    World J Urol 33:275-80. 2015
    ..The objectives of this study were to examine the expression of various cellular proteins within the urothelium (UT) and lamina propria (LP) following chronic bladder ischemia in the rat urinary bladder...
  16. doi R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma
    Shu Juan Jiang
    Clinical Genetics Department, the Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China
    Int J Pediatr Otorhinolaryngol 78:1461-6. 2014
    Mutations in the GJB2 gene encoding connexin 26 (Cx26) are major causes of hereditary deafness. This study aimed to characterize the mutation profiles of the GJB2 gene in a Chinese family with sensorineural hearing loss.
  17. doi Reduced expression of Connexin26 and its DNA promoter hypermethylation in the inner ear of mimetic aging rats induced by d-galactose
    Xia Wu
    Department of Otolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, PR China
    Biochem Biophys Res Commun 452:340-6. 2014
    Connexin26 (Cx26), one of the major protein subunits forming gap junctions (GJs), is important in maintaining homeostasis in the inner ear and normal hearing...
  18. pmc Atomic force microscopy shows connexin26 hemichannel clustering in purified membrane fragments
    Brian Meckes
    Department of Bioengineering, National Center for Microscopy and Imaging Research, Department of Aerospace and Mechanical Engineering, Department of Neurosciences, and Materials Science Program, University of California San Diego, 9500 Gillman Drive, La Jolla, California 92093, United States
    Biochemistry 53:7407-14. 2014
    ..Defects in the Connexin26 (Cx26) gene are the major cause of hereditary deafness arising from dysfunctional hemichannels in the cochlea...
  19. doi Role of Specificity Protein-1 and Activating Protein-2 Transcription Factors in the Regulation of the Gap Junction Protein Beta-2 Gene in the Epididymis of the Rat
    Cécile Adam
    Laboratory for Reproductive Toxicology, INRS Institut Armand Frappier, Universite du Quebec, Laval, Quebec, Canada
    Biol Reprod 94:120. 2016
    In prepubertal rats, connexin 26 (GJB2) is expressed between adjacent columnar cells of the epididymis...
  20. doi Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort
    Elona Cama
    Servizio di Audiologia e Foniatria, Dipartimento Specialita Medico Chirurgiche, University of Padua, Padova, Italy
    Int J Audiol 48:12-7. 2009
    The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6)...
  21. pmc The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome
    Gulistan Mese
    Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY 11794, USA
    Mol Biol Cell 22:4776-86. 2011
    Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
  22. doi Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2
    Luis Pablo Gravina
    Laboratorio de Biologia Molecular, Servicio de Genetica, Hospital de Pediatria Prof Dr Juan P Garrahan, Combate de los Pozos 1881, 1245 Buenos Aires, Argentina
    Int J Pediatr Otorhinolaryngol 74:250-4. 2010
    Mutations in DFNB1 locus, containing GJB2 (connexin 26) and GJB6 (connexin 30) genes, are the most common cause of autosomal recessive non-syndromic hearing loss. More than 100 mutations in GJB2 have been reported worldwide...
  23. doi Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss
    Seema Bhalla
    Department of Otolaryngology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
    Int J Pediatr Otorhinolaryngol 75:356-9. 2011
    ..The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively...
  24. doi Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates
    Jordan B Hochman
    Department of Otolaryngology, University of Manitoba, Winnipeg, Manitoba, Canada
    Otol Neurotol 31:919-22. 2010
    To assess the prevalence of Connexin 26 (GJB2), Connexin 30 (GJB6), and Pendred (SLC26A4) mutations in a population of adult cochlear implant patients with a history of either early idiopathic or hereditary progressive sensorineural ..
  25. 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...
  26. 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...
  27. 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)...
  28. doi Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian population
    Diana P Popova
    Department of ENT, Medical University Sofia, Blvd Han Pagan 1, 1680 Sofia, Bulgaria
    Eur Arch Otorhinolaryngol 269:1589-92. 2012
    Objective of the study is to assess the prevalence of Connexin 26 (GJB2) mutation in patients with congenital nonsyndromic sensorineural hearing loss in Bulgarian population. Study design is done prospectively...
  29. doi Early inner retinal astrocyte dysfunction during diabetes and development of hypoxia, retinal stress, and neuronal functional loss
    Alice Ly
    Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria, Australia
    Invest Ophthalmol Vis Sci 52:9316-26. 2011
    ....
  30. pmc Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss
    Chun Liang
    Department of Otolaryngology, University of Kentucky Medical School, Lexington, KY 40536, USA
    Neurosci Lett 528:36-41. 2012
    Connexin26 (Cx26, GJB2) mutations can induce congenital deafness and are responsible for ∼50% of nonsyndromic hearing loss in children...
  31. doi Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss
    Seyed Basir Hashemi
    Department of Otolaryngology, Shiraz University of Medical Sciences, Shiraz, Iran
    Mol Biol Rep 39:10481-7. 2012
    Hereditary hearing loss is a genetically heterogeneous disorder. Mutations in connexin 26 (CX26), are a major cause in many countries and are largely dependent on ethnic groups...
  32. pmc Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China
    Yajie Lu
    Department of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China
    J Biomed Res 25:309-18. 2011
    ..a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNA(Ser(UCN)) by PCR amplification and ..
  33. pmc Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity
    So Young Kim
    Department of Otorhinolaryngology Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
    PLoS ONE 8:e61592. 2013
    A p.V37I variant of GJB2 has been reported from subjects with moderate or slight hearing loss especially in East Asian populations. This study aimed to estimate the prevalence of the p...
  34. doi Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients
    Tiago Daniel Matos
    Centre for Biodiversity, Functional, and Integrative Genomics BioFIG, Faculty of Science, University of Lisbon, Lisboa, Portugal
    Int J Audiol 52:466-71. 2013
    To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients.
  35. doi Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
    Zied Riahi
    Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia
    Gene 525:1-4. 2013
    ..It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness...
  36. doi [Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening]
    N Prera
    Universitätsklinikum für Hals, Nasen und Ohrenheilkunde, Universitatsklinikum Freiburg
    Laryngorhinootologie 93:244-8. 2014
    ..About half of the cases are due to genetic alterations. Most commonly, the GJB2 gene (connexin-26) is concerned with the mutation c.35delG...
  37. pmc Genetics of non syndromic hearing loss in the republic of macedonia
    E Sukarova Stefanovska
    Research Centre for Genetic Engineering and Biotechnology Georgi D Efremov, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia
    Balkan J Med Genet 15:57-9. 2012
    ..Despite the wide functional heterogeneity of the genes, mutations in the GJB2 gene are found to be the most common cause of sporadic and recessive NSHL in many populations worldwide...
  38. ncbi Gentamicin affects connexin 26 expression in the cochlear lateral wall
    P Hu
    Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha 410011, China
    B-ENT 8:77-84. 2012
    ..b>Connexin 26 expression in the lateral wall may play a role in acquired hearing loss by maintaining the endocochlear ..
  39. pmc Intracellular Delivery of Short Interfering RNA in Rat Organ of Corti Using a Cell-penetrating Peptide PepFect6
    Suvarna Dash-Wagh
    Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
    Mol Ther Nucleic Acids 1:e61. 2012
    ..PF6/siRNA nanoparticles lead to knockdown of target genes, a housekeeping gene and supporting cell-specific connexin 26. Interestingly, application of PF6/connexin 26 siRNA exhibited knockdown of both connexin 26 and 30 mRNA and ..
  40. doi Long-lasting changes in the cochlear K+ recycling structures after acute energy failure
    Yoichiro Takiguchi
    Department of Otolaryngology, Eiju General Hospital, 2 23 16 Higashi Ueno, Taito Ku, Tokyo 110 8645, Japan The Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, 2 5 1 Higashigaoka, Meguro ku, Tokyo, 152 8902, Japan Department of Otolaryngology, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku ku, Tokyo, 160 8582, Japan
    Neurosci Res 77:33-41. 2013
    ..and the levels of the Na,K-ATPase alpha and beta1 subunits and of NKCC1 were decreased in these cells, whereas connexin 26 (Cx26) level increased in the type 1 fibrocytes adjacent to the stria vascularis...
  41. ncbi Expression of different connexin genes in rat uterus during decidualization and at term
    E Winterhager
    Institut für Anatomie der Universität, Essen Bundesrepublik Deutschland
    Eur J Cell Biol 55:133-42. 1991
    ..In gap junctions from uterine epithelium, stroma, or myometrium, connexin 26 and/or connexin 43 are much more abundant than connexins 32 and 37...
  42. ncbi Differential changes in expression of gap junction proteins connexin 26 and 32 during hepatocarcinogenesis in rats
    H Sakamoto
    Department of Pathology, Sapporo Medical College
    Jpn J Cancer Res 83:1210-5. 1992
    We examined expressions of the gap junction proteins, connexin 26 (Cx26) and 32 (Cx32), in preneoplastic and neoplastic lesions during rat hepatocarcinogenesis...
  43. ncbi Altered expression and function of hepatocyte gap junctions after common bile duct ligation in the rat
    M B Fallon
    Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Am J Physiol 268:C1186-94. 1995
    ..IF) localization and mRNA and protein levels of the two hepatocyte gap junction proteins connexin 32 and connexin 26, after hepatic injury induced by common bile duct ligation (CBDL) in the rat...
  44. ncbi Changes in cellular distribution of connexins 32 and 26 during formation of gap junctions in primary cultures of rat hepatocytes
    T Kojima
    Department of Pathology, Cancer Research Institute, Sapporo Medical University School of Medicine, Japan
    Exp Cell Res 223:314-26. 1996
    In the adult rat hepatocyte, gap junction proteins consist of connexin 32 (Cx32) and connexin 26 (Cx26). Previously, we reported that both Cx32 and Cx26 were markedly induced and maintained in primary cultures of adult rat hepatocytes...
  45. ncbi Effects of oxygen radical scavengers on connexins 32 and 26 expression in primary cultures of adult rat hepatocytes
    T Kojima
    Department of Pathology, Cancer Research Institute, Sapporo Medical University School of Medicine, Japan
    Carcinogenesis 17:537-44. 1996
    Although we recently reported our success in inducing and maintaining the gap junction proteins connexin 26 (Cx26) and connexin 32 (Cx32) in adult rat hepatocytes cultured in serum-free L-15 medium supplemented with epidermal growth ..
  46. ncbi Immunolocalization of GLUT1 and connexin 26 in the rat placenta
    B C Shin
    Laboratory of Molecular and Cellular Morphology, Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Gunma 371, Japan
    Cell Tissue Res 285:83-9. 1996
    ..Double-immunofluorescence microscopy has shown that connexin 26 is present between these GLUT1-positive sites, i.e., between syncytiotrophoblastic layers I and II...
  47. ncbi Expression of connexin 26 in the lateral wall of the rat cochlea after acoustic trauma
    Wei Chung Hsu
    Department of Otolaryngology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan
    Acta Otolaryngol 124:459-63. 2004
    Although the mutation in the Gap Junction Beta 2-encoding gap junction protein connexin 26 (Cx26) has been related to hereditary non-syndromic deafness and maturation of cochlear development, the physiological role of Cx26 in the ..
  48. ncbi Reduced cell-cell communication in experimentally induced autoimmune thyroid disease
    L M Green
    Research Service, J L Pettis Memorial Veterans Medical Center, Loma Linda, California 92357
    Endocrinology 137:2823-32. 1996
    ..Both experimental and control rat thyroid tissues produced gap junction proteins connexin 43, connexin 32, and connexin 26. The connexins in nondiseased tissue was located in the plasma membrane at points of cell-cell contact and ..
  49. ncbi Expression of connexin-43 and connexin-26 in the rat myometrium during pregnancy and labor is differentially regulated by mechanical and hormonal signals
    C W Ou
    Mount Sinai Hospital, and the Department of Obstetrics and Gynecology, University of Toronto, Ontario, Canada
    Endocrinology 138:5398-407. 1997
    ..In contrast, Cx-26 expression during late pregnancy, although requiring the presence of the fetal/placental unit, does not require stretch of the myometrium...
  50. ncbi Direct modulation of tumor suppressor connexin 26 gene by human chorionic gonadotropin in rat mammary glands
    S You
    Department of Medicine, University of Minnesota Medical School, Minneapolis 55455, USA
    Cancer Res 58:1498-502. 1998
    ..Because connexin 26 (Cx26), a tumor suppressor gene candidate, can be up-regulated in mammary epithelial cells during lactation, we ..
  51. ncbi Gap junction connexin genes cx26 and cx43 are differentially regulated by ovarian steroid hormones in rat endometrium
    R Grummer
    Institute of Anatomy, University Hospital, Essen, Germany
    Endocrinology 140:2509-16. 1999
    In rat endometrium, expression of gap junction connexin-26 (cx26) in the epithelium and cx43 in the uterine stroma is suppressed by progesterone before implantation...
  52. pmc Identification of cells expressing Cx43, Cx30, Cx26, Cx32 and Cx36 in gap junctions of rat brain and spinal cord
    J E Rash
    Department of Biomedical Sciences, Colorado State University, Fort Collins 80523, USA
    Cell Commun Adhes 8:315-20. 2001
    We have identified cells expressing Cx26, Cx30, Cx32, Cx36 and Cx43 in gap junctions of rat central nervous system (CNS) using confocal light microscopic immunocytochemistry and freeze-fracture replica immunogold labeling (FRIL)...
  53. pmc Sequence and tissue distribution of a second protein of hepatic gap junctions, Cx26, as deduced from its cDNA
    J T Zhang
    Department of Biological Sciences, State University of New York, Buffalo 14260
    J Cell Biol 109:3391-401. 1989
    ..tertiary structure confirm that this protein forms part of the connexin family and is consequently referred to as Cx26. Consistent with observations on Cx43 (Beyer, E. C., D. L. Paul, and D. A. Goodenough. 1987. J. Cell Biol...
  54. ncbi Two homologous protein components of hepatic gap junctions
    B Nicholson
    Division of Biology, California Institute of Technology, Pasadena 91125
    Nature 329:732-4. 1987
    ..Immuno-staining and immuno-precipitation show both proteins to be in the same gap junctional plaques. Thus, it seems that hepatic gap junction channels (and by extension possibly others) are composed of two (or more) homologous proteins...
  55. ncbi Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
    X Z Liu
    Department of Human Genetics, Medical College of Virginia of Virginia Commonwealth University, Richmond, VA 23298 0033, USA
    Hum Mol Genet 10:2945-51. 2001
    ..of the connexin gene family have been shown to underlie distinct genetic forms of deafness, including GJB2 [connexin 26 (Cx26)], GJB3 (Cx31), GJB6 (Cx30) and GJB1 (Cx32)...
  56. ncbi Connexin26 is regulated in rat urothelium by the scaffold protein IB1/JIP-1
    T Tawadros
    Service of Urology, University Hospital, Lausanne, Switzerland
    Cell Commun Adhes 8:303-6. 2001
    ..In the rat bladder, Cx43 is expressed by SMC and urothelial cells, whereas Cx26 expression is restricted to the epithelium...
  57. pmc Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins
    Francisco J del Castillo
    Unite de Genetique et Physiologie de l Audition, Institut Pasteur, Paris, France
    Hum Mol Genet 19:262-75. 2010
    ..Sequence accession numbers. GenBank: Human CNST cDNA, NM_152609; mouse Cnst cDNA, NM_146105...
  58. ncbi Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communication
    Julie Dufresne
    Institut National de la Recherche Scientifique Institut Armand Frappier, Universite du Quebec, 245 Hymus Boulevard, Pointe Claire, Quebec, Canada H9R 1G6
    Am J Physiol Cell Physiol 284:C33-43. 2003
    ..Cx30.3, 31.1, and 32 were identified in adult rat epididymis by RT-PCR, whereas Cx26 was present in young rats...
  59. ncbi A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness
    Klemens Frei
    Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Bruder, Vienna, Austria
    Audiol Neurootol 9:47-50. 2004
    Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children...
  60. ncbi Different regulatory pathways of endometrial connexin expression: preimplantation hormonal-mediated pathway versus embryo implantation-initiated pathway
    R Grummer
    Institute of Anatomy, University Hospital, 45122 Essen, Germany
    Biol Reprod 71:273-81. 2004
    ..Additionally, Cx26 and Cx43 are induced by embryonic signals during implantation and delayed implantation as well as during ..
  61. ncbi Connexin43 and connexin26 form gap junctions, but not heteromeric channels in co-expressing cells
    Joanna Gemel
    Department of Pediatrics, Section of Hematology Oncology and Stem Cell Transplantation, University of Chicago, IL 60637 1470, USA
    J Cell Sci 117:2469-80. 2004
    ..b>Cx26 and Cx43 are found together in a number of cell types, but previous data have suggested that they might not form ..
  62. ncbi Reduced expression of the Connexin26 gene and its aberrant DNA methylation in rat lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine
    Kyoko Shimizu
    Laboratory of Cancer Biology and Bioinformatics, Department of Life Science, Faculty of Science and Engineering, Kinki University, Higashiosaka, Osaka, Japan
    Mol Carcinog 45:710-4. 2006
    ..A member of the Cx family, Cx26 is considered a potential tumor suppressor in several cancers...
  63. ncbi Connexin levels regulate keratinocyte differentiation in the epidermis
    Stephanie Langlois
    Department of Anatomy and Cell Biology, The University of Western Ontario, London, Ontario, N6A 5C1, Canada
    J Biol Chem 282:30171-80. 2007
    ..When Cx43 expression was knocked down by 50-75%, there was a coordinate 55-65% reduction in Cx26 level, gap junction-based dye coupling was reduced by 60%, and transepithelial resistance decreased...
  64. doi Dynamic changes in connexin expression following engraftment of neural stem cells to striatal tissue
    Johan Jäderstad
    Neonatal Research Unit, Dept of Women s and Children s Health, Astrid Lindgren Children s Hospital, Karolinska Institutet, S 171 76, Stockholm, Sweden
    Exp Cell Res 317:70-81. 2011
    ....
  65. ncbi Gap junction adhesion is necessary for radial migration in the neocortex
    Laura A B Elias
    Neuroscience Graduate Program, University of California San Francisco, 513 Parnassus Avenue, San Francisco, California 94143, USA
    Nature 448:901-7. 2007
    ..Here we show that the gap junction subunits connexin 26 (Cx26) and connexin 43 (Cx43) are expressed at the contact points between radial fibres and migrating neurons, ..
  66. 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 ..
  67. ncbi Differential expression and localization of connexins 26 and 43 in the rat gingival epithelium
    Takashi Muramatsu
    Oral Health Science Center HRC7, Tokyo Dental College, Chiba, Japan
    Arch Histol Cytol 71:147-54. 2008
    ..RT-PCR analysis revealed CX26 gene expression in both the upper and lower layers of the gingival epithelium and in the total epithelial layer, ..
  68. pmc Post-translational modifications of connexin26 revealed by mass spectrometry
    Darren Locke
    Department of Pharmacology and Physiology, New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, NJ 07103, USA
    Biochem J 424:385-98. 2009
    Gap junctions play important roles in auditory function and skin biology; mutations in the Cx26 (connexin26) gene are the predominant cause of inherited non-syndromic deafness and cause disfiguring skin disorders...

Research Grants5

  1. Zeiss LSM 510 Laser Scanning Microscope
    JOHN RASH; Fiscal Year: 2002
    ..The DIC Board of Directors will meet bi-monthly to insure continued efficient scheduling and operation of the replacement confocal microscope, to consider future upgrades, and to establish or change DIC access policies. ..
  2. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    Xue Liu; Fiscal Year: 2002
    ..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..
  3. Gap Junctions and Connexins in Developing CNS
    JOHN RASH; Fiscal Year: 2005
    ....
  4. Connexins in Neuronal and Glial Gap Junctions in the Central Nervous System
    JOHN RASH; Fiscal Year: 2007
    ..abstract_text> ..