Genomes and Genes
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
Publications252 found, 100 shown here
- GJB2 mutations and degree of hearing loss: a multicenter studyRikkert 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 ..
- Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean populationSung 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. 2008Mutations 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...
- Structure of the connexin 26 gap junction channel at 3.5 A resolutionShoji 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...
- Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patternsTomohiro Oguchi
Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto, 390 8621, Japan
J Hum Genet 50:76-83. 2005Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations...
- The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school childrenH 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.
- A large cohort study of GJB2 mutations in Japanese hearing loss patientsK Tsukada
Department of Otorhinolaryngology, Shinshu University School of Medicine, 3 1 1 Asahi, Matsumoto 390 8621, Japan
Clin Genet 78:464-70. 2010b>GJB2 is the gene most frequently associated with hereditary hearing loss, and the GJB2 mutation spectrums vary among different ethnic groups...
- A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expressionE 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 ..
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessD 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...
- The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cisJuan Rodriguez-Paris
Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
Biochem Biophys Res Commun 389:354-9. 2009b>Connexin 26 and connexin 30 are the major connexins expressed in the cochlea, where they are co-localized and form heteromeric gap junctions...
- SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsSebastien 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.
- High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individualsD 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)...
- A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi JewsI 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 ..
- Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in ChinaYongyi 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...
- Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese populationT Kudo
Department of Otorhinolaryngology, Tohoku University School of Medicine, Sendai, Japan
Am J Med Genet 90:141-5. 2000Mutations 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 ..
- Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 geneF 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...
- A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairmentL 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...
- Clinical significance of the expression of connexin26 in colorectal cancerShinya 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. 2010Connexin26 (Cx26) is one of the connexins (Cxs) family members which form gap junction channels. Cx26 is considered to be a tumor suppressor gene...
- Connexin26 gene ( GJB2): prevalence of mutations in the Chinese populationYuhe Liu
Department of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China
J Hum Genet 47:688-90. 2002The 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)...
- GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deafMustafa 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 ..
- 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...
- A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triadJay 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...
- Connexin 26 35delG does not represent a mutational hotspotCaryn 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...
- Connexin-26 mutations in deafness and skin diseaseJack R Lee
Department of Physiology and Biophysics, Stony Brook University Medical Center, Stony Brook, New York 11794 8661, USA
Expert Rev Mol Med 11:e35. 2009..Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause ..
- Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east AsiansDenise Yan
Department of Otolaryngology, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 114:44-50. 2003Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations...
- Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patientsK Y Lee
Department of Otolaryngology, College of Medicine, Kyungpook National University, Deagu 702 701, Republic of Korea
Int J Pediatr Otorhinolaryngol 72:1301-9. 2008Mutations 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.
- Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele 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 ..
- Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testingBai 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)...
- Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibuleAtsunori 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 ..
- Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytesJack 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. 2009Mutations 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...
- Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairmentJoy 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...
- 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 Connexin26Ken 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 ..
- High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing lossVassos Neocleous
Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
Genet Test 10:285-9. 2006Mutations in the GJB2 (Connexin 26) gene are responsible for more than half of all cases of prelingual, recessive, inherited, nonsyndromic deafness in Europe...
- Aberrant expression of connexin 26 is associated with lung metastasis of colorectal cancerKoji Ezumi
Department of Surgery, Gastroenterological Surgery, Graduate School of Medicine, Osaka University, Yamada oka, Suita City, Osaka, Japan
Clin Cancer Res 14:677-84. 2008b>Connexin 26 (Cx26) is one of the gap junction-forming family members classically considered to be tumor suppressors...
- Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypesEugene 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...
- GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjectsYu 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 ..
- Connexin26 deafness associated mutations show altered permeability to large cationic moleculesGulistan 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. 2008Intercellular communication is important for cochlear homeostasis because connexin26 (Cx26) mutations are the leading cause of hereditary deafness...
- Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek populationHaris 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...
- Connexin-26-associated deafness: phenotypic variability and progression of hearing lossDylan 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. 2010To evaluate genotype-phenotype correlation over time for a cohort of children with connexin-26 (GJB2)-associated autosomal recessive hearing loss.
- A novel hearing-loss-related mutation occurring in the GJB2 basal promoterT D Matos
J Med Genet 44:721-5. 2007Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries...
- GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairmentPu Dai
Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, Beijing, PR China
J Transl Med 7:26. 2009Mutations 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.
- Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle EastHashem 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...
- High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipientsDongye 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. 2009The 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...
- Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26Ingo 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 ..
- 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...
- GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individualsElif Baysal
Department of Otolaryngology, Faculty of Medicine, Gazi University, TR 06510 Besevler, Ankara, Turkey
J Genet 87:53-7. 2008This 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...
- Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairmentSeema Bhalla
Department of Otolaryngology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
Biochem Biophys Res Commun 385:445-8. 2009Mutations 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...
- Connexin 26 expression correlates with less aggressive phenotype of intestinal type-gastric carcinomasXiaoli Liu
Department of Pathology, Shanghai Medical College, Fudan University, Shanghai 200032, PR China
Int J Mol Med 25:709-16. 2010b>Connexin 26 (Cx26), one of the gap junction-forming family members, is more controversial than other members, as a tumor suppressor...
- GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of ChinaGuanming 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. 2011The 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...
- Infant hearing loss and connexin testing in a diverse populationLisa 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...
- Overexpression of connexin 26 in carcinoma of the pancreasNaganori Kyo
Department of Surgery, Gastroenterological Surgery, Graduate School of Medicine, Osaka University, Osaka 565 0871, Japan
Oncol Rep 19:627-31. 2008Contrary 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...
- Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variantNejat Mahdieh
Kawsar Human Genetic Research Center, Tehran, Iran
Genet Test Mol Biomarkers 15:489-93. 2011Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations...
- Congenital deafness: high prevalence of a V37I mutation in the GJB2 gene among deaf school children in Alor SetarB 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. 2005Twenty 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...
- 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.
- The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient GreeceGérard Lucotte
Institute of Molecular Anthropology, 75005 Paris, France
Genet Test 9:20-5. 2005The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus represents the most common mutation in Caucasian patients with genetic sensorineural deafness...
- Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patientsMortaza Bonyadi
Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran
Genet Test Mol Biomarkers 13:689-92. 2009Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide...
- High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafnessT Antoniadi
Clin Genet 55:381-2. 1999
- Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan populationOmar Abidi
Laboratory of Human Genetics, Department of Scientific Research, Pasteur Institute, Casablanca, Morocco
Genet Test 12:569-74. 2008Mutations in the Connexin 26 gene (GJB2/Cx26) are responsible for more than half of all cases of prelingual nonsyndromic recessive deafness in Caucasians...
- Detection of epidermal thickening in GJB2 carriers with epidermal USPierpaolo 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).
- Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi ArabiaMohammed 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...
- Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counselingS 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. 2001To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene (CX26 or GJB2) mutations.
- Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafnessDwan 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. 2007Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various forms of hereditary deafness and skin disease...
- 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...
- M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetranceAgnieszka Pollak
Institute of Physiology and Pathology of Hearing, Warsaw, Poland
Am J Med Genet A 143:2534-43. 2007Despite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial...
- Connexin-26 mutations in sporadic and inherited sensorineural deafnessX 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 ..
- A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohortGirish V Putcha
Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
Genet Med 9:413-26. 2007The 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 ..
- The prevalence of connexin 26 ( GJB2) mutations in the Chinese populationXue Zhong Liu
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, Florida 33136, USA
Hum Genet 111:394-7. 2002Mutations in GJB2, encoding gap junction beta 2 protein (connexin 26), are responsible for the commonest form of non-syndromic recessive deafness in many populations...
- Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of EurasiaLilya 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...
- A new large deletion in the DFNB1 locus causes nonsyndromic hearing lossDelphine 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. 2009Mutations 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...
- GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairmentG 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 ..
- 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...
- GJB2 mutations: passage through IranHossein 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...
- High frequency hearing loss correlated with mutations in the GJB2 geneS A Wilcox
The Murdoch Institute, Royal Children s Hospital, Melbourne, Australia
Hum Genet 106:399-405. 2000Genetic 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...
- Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) geneR Rabionet
Deafness Research Group, Medical and Molecular Genetics Center, CGMM IRO, Barcelona, Spain
Hum Genet 106:40-4. 2000Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations...
- Connexin 26 correlates with Bcl-xL and Bax proteins expression in colorectal cancerLuiza Kanczuga-Koda
Department of Pathology, Medical University of Bialystok, Waszyngtona 13, 15 269 Bialystok, Poland
World J Gastroenterol 11:1544-8. 2005To evaluate of Cx26 in correlation with Bcl-xL and Bax proteins in colorectal cancer.
- GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutationsA Pollak
J Med Genet 45:607-8. 2008
- The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriersB 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...
- Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutationsRegie 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. 2005Despite 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...
- Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech populationP 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. 2005Mutations in the GJB2 gene are the most common cause of prelingual, autosomal recessive, sensorineural hearing loss worldwide...
- GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal formAndreas 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...
- Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafnessMartina 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...
- GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern ChinaGui 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. 2004Mutations in GJB2 account for the majority of recessive forms of prelingual hearing loss...
- 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 populationAsli Sirmaci
Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara 06100, Turkey
J Genet 85:213-6. 2006
- Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM 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...
- Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing lossD A Scott
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA
Hum Mutat 11:387-94. 1998Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12...
- The prevalence of the 235delC GJB2 mutation in a Chinese deaf populationPu Dai
Department of Otorhinolaryngology Head, PLA General Hospital, Beijing, People s Republic of China
Genet Med 9:283-9. 2007Mutations 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...
- Connexin26 expression is associated with lymphatic vessel invasion and poor prognosis in human breast cancerYasuto 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. 2007b>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...
- 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 controlsHsiao 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. 2006Mutations 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...
- Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndromeS Yotsumoto
Department of Dermatology, Kagoshima University Faculty of Medicine, 8 35 1 Sakuragaoka, Kagoshima 890 8520, Japan
Br J Dermatol 148:649-53. 2003Germline 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.
- Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulationAlessandro 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. 2010The 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...
- Pathogenetic role of the deafness-related M34T mutation of Cx26Massimiliano 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. 2006Mutations 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...
- 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)...
- [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. 2007To analyze the sequence of GJB2 gene in nonsyndromic hearing impairment (NSHI) patients in China.
- Connexin family members target to lipid raft domains and interact with caveolin-1Anne 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...
- Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplificationSueli 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. 2009Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c...
- Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testingT 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 ..
- Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern AustriaKlemens 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...
- [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. 2002The 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...
- A genotype-phenotype correlation for GJB2 (connexin 26) deafnessK Cryns
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
J Med Genet 41:147-54. 2004Mutations 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.
- Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counsellingF Denoyelle
Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France
Lancet 353:1298-303. 1999b>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...
- Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31Xue Zhong Liu
Department of Otolaryngology D 48, University of Miami, 1666 NW 12th Avenue, Miami, FL 33136, USA
Hum Genet 125:53-62. 2009Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness...
- Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafnessHsiao Lin Hwa
Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan
Genet Med 5:161-5. 2003To 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.
- Mutant cochlear connexins associated with deafnessGuillermo Altenberg; Fiscal Year: 2006..In most cells of the normal cochlea gap-junctional channels are heteromeric assemblies formed by the connexins Cx26 and Cx30...
- PROPERTIES OF CONNEXIN CHANNELS THAT CAUSE DEAFNESSAndrew Harris; Fiscal Year: 2006DESCRIPTION (provided by applicant): Mutations in the connexin26 (Cx26) gene (GJB2) are the predominant cause of inherited syndromic sensorineural deafness in humans...
- Function and Expression of Connexins in the pre-Botzinger ComplexJONATHAN 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 ..
- Structure/Function Analysis of Low pl Connexin IsoformsELLIOT HERTZBERG; Fiscal Year: 2003..Mutations in Cx26 underlie the most common forms of non-syndromic deafness...
- Connexin Mutations in DeafnessThomas White; Fiscal Year: 2003Mutations 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...
- CONNEXINS AND CARCINOGENESISHiroshi Yamasaki; Fiscal Year: 1999..data suggest that co-expression of the Cx32 gene in HeLa cells, the tumorigenicity of which had been suppressed by Cx26 transfection, resulted in removal of this suppression...
- ANALYSIS OF CONNEXIN26 IN MOUSE SKIN CARCINOGENESISIrina 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...
- New APEX diagnostic for hereditary sensorineural hearing lossPhyllis 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)...
- Outcomes of Cx26 Testing in Deaf/Hard of Hearing AdultsChristina Palmer; Fiscal Year: 2009DESCRIPTION (provided by applicant): Genetic testing for deafness is now a reality with the identification of Connexin 26 (Cx26, GJB2) as a cause of up to 50% of nonsyndromic sensorineural deafness...
- Effect of co-assembly on the stability of cochlear gap junctionsShoeb Ahmad; Fiscal Year: 2009..Genes coding for Cx26 and Cx30 are the most common cause of hereditary non-syndromic deafness...
- The Human Genome Project and Hearing LossDONNA SORKIN; Fiscal Year: 2001..One speaker, Dr. Heidi Relim of Harvard Medical School, has since authored an article on Connexin 26 testing which will be published in the November/December 2000 issue of Volta Voices, AG Bell's popular magazine...
- GENERATION OF MODELS FOR GENETIC HEARING LOSSDANA 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 ..