Genomes and Genes
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
- The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndromeMelanie Schütz
Institut for Genetik, Rheinische Friedrich Wilhelms Universitat Bonn, Bonn, Germany
Hum Mol Genet 20:28-39. 2011Mutations in the GJB2 gene coding for connexin26 (Cx26) can cause a variety of deafness and hereditary hyperproliferative skin disorders in humans...
- Prevalent connexin 26 gene (GJB2) mutations in JapaneseS Abe
Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
J Med Genet 37:41-3. 2000The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far...
- 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...
- A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated familiesE 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 ..
- Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2Gabriele 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...
- Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disordersGeorge 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 ..
- New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratodermaSandra Iossa
Unit of Audiology, Department of Neurosciences, University of Naples Federico II, Naples, Italy
Am J Med Genet A 149:685-8. 2009The 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 ..
- Molecular profiling and cellular localization of connexin isoforms in the rat ciliary epitheliumKirsten 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...
- CpG site hypermethylation of E-cadherin and Connexin26 genes in hepatocellular carcinomas induced by a choline-deficient L-Amino Acid-defined diet in ratsToshifumi 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. 2007We 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...
- Connexins 43 and 26 are differentially increased after rat bladder outlet obstructionJacques 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-..
- Localization of connexin26 and connexin32 in putative CO(2)-chemosensitive brainstem regions in ratI 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...
- 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. 2001The 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 ..
- Developmental expression patterns of connexin26 and -30 in the rat cochleaJ 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...
- Modulation of gap junction expression during transient hyperplasia of rat epidermisB 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...
- Urinary bladder mucosal responses to ischemiaMasataka 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...
- R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratodermaShu Juan Jiang
Clinical Genetics Department, the Affiliated Shengjing Hospital, China Medical University, 110004 Shenyang, Liaoning, PR China
Int J Pediatr Otorhinolaryngol 78:1461-6. 2014Mutations 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.
- Reduced expression of Connexin26 and its DNA promoter hypermethylation in the inner ear of mimetic aging rats induced by d-galactoseXia 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. 2014Connexin26 (Cx26), one of the major protein subunits forming gap junctions (GJs), is important in maintaining homeostasis in the inner ear and normal hearing...
- Atomic force microscopy shows connexin26 hemichannel clustering in purified membrane fragmentsBrian 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...
- 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 RatCécile Adam
Laboratory for Reproductive Toxicology, INRS Institut Armand Frappier, Universite du Quebec, Laval, Quebec, Canada
Biol Reprod 94:120. 2016In prepubertal rats, connexin 26 (GJB2) is expressed between adjacent columnar cells of the epididymis...
- Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohortElona Cama
Servizio di Audiologia e Foniatria, Dipartimento Specialita Medico Chirurgiche, University of Padua, Padova, Italy
Int J Audiol 48:12-7. 2009The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6)...
- The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndromeGulistan Mese
Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY 11794, USA
Mol Biol Cell 22:4776-86. 2011Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
- Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2Luis 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. 2010Mutations 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...
- Absence of GJB6 mutations in Indian patients with non-syndromic hearing lossSeema 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...
- Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidatesJordan B Hochman
Department of Otolaryngology, University of Manitoba, Winnipeg, Manitoba, Canada
Otol Neurotol 31:919-22. 2010To 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 ..
- A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafnessE 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...
- A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafnessEugene 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...
- Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing lossAlessandro 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)...
- Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian populationDiana P Popova
Department of ENT, Medical University Sofia, Blvd Han Pagan 1, 1680 Sofia, Bulgaria
Eur Arch Otorhinolaryngol 269:1589-92. 2012Objective 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...
- Early inner retinal astrocyte dysfunction during diabetes and development of hypoxia, retinal stress, and neuronal functional lossAlice Ly
Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria, Australia
Invest Ophthalmol Vis Sci 52:9316-26. 2011....
- Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing lossChun Liang
Department of Otolaryngology, University of Kentucky Medical School, Lexington, KY 40536, USA
Neurosci Lett 528:36-41. 2012Connexin26 (Cx26, GJB2) mutations can induce congenital deafness and are responsible for ∼50% of nonsyndromic hearing loss in children...
- Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing lossSeyed Basir Hashemi
Department of Otolaryngology, Shiraz University of Medical Sciences, Shiraz, Iran
Mol Biol Rep 39:10481-7. 2012Hereditary 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...
- Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of ChinaYajie 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 ..
- Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicitySo 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. 2013A 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...
- Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patientsTiago Daniel Matos
Centre for Biodiversity, Functional, and Integrative Genomics BioFIG, Faculty of Science, University of Lisbon, Lisboa, Portugal
Int J Audiol 52:466-71. 2013To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients.
- Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing lossZied 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...
- [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...
- Genetics of non syndromic hearing loss in the republic of macedoniaE 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...
- Gentamicin affects connexin 26 expression in the cochlear lateral wallP 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 ..
- Intracellular Delivery of Short Interfering RNA in Rat Organ of Corti Using a Cell-penetrating Peptide PepFect6Suvarna 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 ..
- Long-lasting changes in the cochlear K+ recycling structures after acute energy failureYoichiro 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...
- Expression of different connexin genes in rat uterus during decidualization and at termE 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...
- Differential changes in expression of gap junction proteins connexin 26 and 32 during hepatocarcinogenesis in ratsH Sakamoto
Department of Pathology, Sapporo Medical College
Jpn J Cancer Res 83:1210-5. 1992We examined expressions of the gap junction proteins, connexin 26 (Cx26) and 32 (Cx32), in preneoplastic and neoplastic lesions during rat hepatocarcinogenesis...
- Altered expression and function of hepatocyte gap junctions after common bile duct ligation in the ratM 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...
- Changes in cellular distribution of connexins 32 and 26 during formation of gap junctions in primary cultures of rat hepatocytesT Kojima
Department of Pathology, Cancer Research Institute, Sapporo Medical University School of Medicine, Japan
Exp Cell Res 223:314-26. 1996In 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...
- Effects of oxygen radical scavengers on connexins 32 and 26 expression in primary cultures of adult rat hepatocytesT Kojima
Department of Pathology, Cancer Research Institute, Sapporo Medical University School of Medicine, Japan
Carcinogenesis 17:537-44. 1996Although 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 ..
- Immunolocalization of GLUT1 and connexin 26 in the rat placentaB 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...
- Expression of connexin 26 in the lateral wall of the rat cochlea after acoustic traumaWei Chung Hsu
Department of Otolaryngology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan
Acta Otolaryngol 124:459-63. 2004Although 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 ..
- Reduced cell-cell communication in experimentally induced autoimmune thyroid diseaseL 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 ..
- Expression of connexin-43 and connexin-26 in the rat myometrium during pregnancy and labor is differentially regulated by mechanical and hormonal signalsC 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...
- Direct modulation of tumor suppressor connexin 26 gene by human chorionic gonadotropin in rat mammary glandsS 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 ..
- Gap junction connexin genes cx26 and cx43 are differentially regulated by ovarian steroid hormones in rat endometriumR Grummer
Institute of Anatomy, University Hospital, Essen, Germany
Endocrinology 140:2509-16. 1999In rat endometrium, expression of gap junction connexin-26 (cx26) in the epithelium and cx43 in the uterine stroma is suppressed by progesterone before implantation...
- Identification of cells expressing Cx43, Cx30, Cx26, Cx32 and Cx36 in gap junctions of rat brain and spinal cordJ E Rash
Department of Biomedical Sciences, Colorado State University, Fort Collins 80523, USA
Cell Commun Adhes 8:315-20. 2001We 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)...
- Sequence and tissue distribution of a second protein of hepatic gap junctions, Cx26, as deduced from its cDNAJ 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...
- Two homologous protein components of hepatic gap junctionsB 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...
- Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafnessX 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)...
- Connexin26 is regulated in rat urothelium by the scaffold protein IB1/JIP-1T 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...
- Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexinsFrancisco 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...
- Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communicationJulie 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...
- A novel connexin 26 mutation associated with autosomal recessive sensorineural deafnessKlemens Frei
Department of Otorhinolaryngology, Krankenhaus der Barmherzigen Bruder, Vienna, Austria
Audiol Neurootol 9:47-50. 2004Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children...
- Different regulatory pathways of endometrial connexin expression: preimplantation hormonal-mediated pathway versus embryo implantation-initiated pathwayR 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 ..
- Connexin43 and connexin26 form gap junctions, but not heteromeric channels in co-expressing cellsJoanna 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 ..
- Reduced expression of the Connexin26 gene and its aberrant DNA methylation in rat lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amineKyoko 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...
- Connexin levels regulate keratinocyte differentiation in the epidermisStephanie 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...
- Dynamic changes in connexin expression following engraftment of neural stem cells to striatal tissueJohan 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....
- Gap junction adhesion is necessary for radial migration in the neocortexLaura 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, ..
- Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stabilityCinzia 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 ..
- Differential expression and localization of connexins 26 and 43 in the rat gingival epitheliumTakashi 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, ..
- Post-translational modifications of connexin26 revealed by mass spectrometryDarren 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. 2009Gap 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...
- Zeiss LSM 510 Laser Scanning MicroscopeJOHN 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. ..
- SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESSXue 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. ..
- Gap Junctions and Connexins in Developing CNSJOHN RASH; Fiscal Year: 2005....
- Connexins in Neuronal and Glial Gap Junctions in the Central Nervous SystemJOHN RASH; Fiscal Year: 2007..abstract_text> ..