GJB6

Summary

Gene Symbol: GJB6
Description: gap junction protein beta 6
Alias: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction beta-6 protein, connexin 30, ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap junction protein, beta 6, 30kDa
Species: human
Products:     GJB6

Top Publications

  1. Lerer I, Sagi M, Ben Neriah Z, Wang T, Levi H, Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum Mutat. 2001;18:460 pubmed
    ..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 the cochlea...
  2. Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, et al. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A. 2007;143A:830-8 pubmed
    ..Heterozygous mutations in GJB2 occasionally co-occur with a deletion of part of GJB6 (connexin 30; Cx30)...
  3. Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000;26:142-4 pubmed
  4. Common J, Becker D, Di W, Leigh I, O Toole E, Kelsell D. Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun. 2002;298:651-6 pubmed
    b>Connexin 30 (Cx30) is a component of the gap junction complex...
  5. Putcha G, Bejjani B, Bleoo S, Booker J, Carey J, Carson N, et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007;9:413-26 pubmed
    The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic ..
  6. del Castillo I, Villamar M, Moreno Pelayo M, del Castillo F, Alvarez A, Telleria D, et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002;346:243-9 pubmed
    ..We identified a 342-kb deletion in the gene encoding connexin 30 (GJB6), a protein that is reported to be expressed with connexin 26 in the inner ear...
  7. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med. 2002;4:258-74 pubmed
    ..These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity. ..
  8. Forge A, Becker D, Casalotti S, Edwards J, Marziano N, Nevill G. Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. J Comp Neurol. 2003;467:207-31 pubmed
    ..mammalian inner ear by RT-PCR, Western blotting, and immunohistochemistry revealed four connexin isotypes, cx26, cx30, cx31, and cx43, in the cochlea and three, cx26, cx30, and cx43, in the vestibular organs...
  9. Yuan Y, You Y, Huang D, Cui J, Wang Y, Wang Q, et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med. 2009;7:79 pubmed publisher
    ..Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN) genes in this population...

More Information

Publications111 found, 100 shown here

  1. Beltramello M, Bicego M, Piazza V, Ciubotaru C, Mammano F, D Andrea P. Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells. Biochem Biophys Res Commun. 2003;305:1024-33 pubmed
  2. Brandner J, Houdek P, Hüsing B, Kaiser C, Moll I. Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing. J Invest Dermatol. 2004;122:1310-20 pubmed
    ..We analyzed the staining patterns of the GJ proteins Cx26, Cx30, and Cx43 in human cutaneous wound healing and compared ex vivo spontaneous wound healing to non-healing wounds (..
  3. Wilch E, Azaiez H, Fisher R, Elfenbein J, Murgia A, Birkenhäger R, et al. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Clin Genet. 2010;78:267-74 pubmed publisher
    ..Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons...
  4. Yang J, Wang W, Lin Y, Weng H, Yang J, Hwang C, et al. Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Hum Genet. 2010;128:303-13 pubmed publisher
    ..These data can be effectively applied to direct the clinical evaluation of children with CX gene variants. ..
  5. Pallares Ruiz N, Blanchet P, Mondain M, Claustres M, Roux A. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?. Eur J Hum Genet. 2002;10:72-6 pubmed
    ..Other connexin genes have been more rarely involved and attention was given here to the GJB6 gene (connexin 30). We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL...
  6. del Castillo I, Moreno Pelayo M, del Castillo F, Brownstein Z, Marlin S, Adina Q, et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet. 2003;73:1452-8 pubmed
    ..Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12, was shown to be the accompanying mutation in approximately 50% of ..
  7. Rodriguez Paris J, Schrijver I. The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun. 2009;389:354-9 pubmed publisher
    Connexin 26 and connexin 30 are the major connexins expressed in the cochlea, where they are co-localized and form heteromeric gap junctions...
  8. Grifa A, Wagner C, D Ambrosio L, Melchionda S, Bernardi F, Lopez Bigas N, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet. 1999;23:16-8 pubmed
  9. Feldmann D, Denoyelle F, Chauvin P, Garabedian E, Couderc R, Odent S, et al. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. Am J Med Genet A. 2004;127A:263-7 pubmed
    Recent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with DFNB1...
  10. Yum S, Zhang J, Valiunas V, Kanaporis G, Brink P, White T, et al. Human connexin26 and connexin30 form functional heteromeric and heterotypic channels. Am J Physiol Cell Physiol. 2007;293:C1032-48 pubmed
    Mutations in GJB2 and GJB6, the genes that encode the human gap junction proteins connexin26 (Cx26) and connexin30 (Cx30), respectively, cause hearing loss...
  11. Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, et al. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. Int J Pediatr Otorhinolaryngol. 2009;73:103-7 pubmed publisher
    ..members with an arrayed primer extension (APEX) microarray, which covers 201 mutations in six nuclear genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5) and two mitochondrial genes encoding 12S rRNA and tRNA-Ser (UCN)...
  12. Qu C, Gardner P, Schrijver I. The role of the cytoskeleton in the formation of gap junctions by Connexin 30. Exp Cell Res. 2009;315:1683-92 pubmed publisher
    Mutations in the genes that encode Connexin 26 (GJB2) and Connexin 30 (GJB6) are the most common known cause of hereditary nonsyndromic sensorineural deafness...
  13. Chen L, Chien Y, Liang C, Chan C, Fan M, Huang H. Green tea extract induces genes related to browning of white adipose tissue and limits weight-gain in high energy diet-fed rat. Food Nutr Res. 2017;61:1347480 pubmed publisher
    ..Four groups of rats (n=10/group) were used including a normal diet with vehicle treatment, and a high-energy diet (HED) with vehicle or GTE by oral gavage at 77.5 or 155 mg/kg/day for 8 weeks...
  14. Chaitanya K, Addanki A, Karambelkar R, Ranjan R. Traumatic brain injury in Indian children. Childs Nerv Syst. 2018;34:1119-1123 pubmed publisher
    ..3%) children were unconscious. CT scan findings revealed no gross abnormality in (26%), extradural heamorrhage (EDH) (18.4%), subdural hemorrhage (SDH) (14.4%), subarachnoid hemorrhage (21%), fracture skull (55...
  15. Juszczak G, Stankiewicz A. Glucocorticoids, genes and brain function. Prog Neuropsychopharmacol Biol Psychiatry. 2017;: pubmed publisher
    ..and Hepacam), autophagy (Eva1a and Plekhf1), vesicular transport (Rhob, Ehd3, Vps37b and Scamp2), gap junctions (Gjb6), immune response (Tiparp, Mertk, Lyve1 and Il6r), signaling mediated by thyroid hormones (Thra and Sult1a1), ..
  16. Changklungmoa N, Kueakhai P, Sangpairoj K, Chaichanasak P, Jaikua W, Riengrojpitak S, et al. Molecular cloning and characterization of Fasciola gigantica thioredoxin-glutathione reductase. Parasitol Res. 2015;114:2119-27 pubmed publisher
    ..5,5'-dithiobis (2-nitro-benzoic acid) (DTNB) reductase assay for TR activity and in β-hydroxyethul disulfide (HED) for Grx activity...
  17. Chen L, Chen Y, Cheng K, Chien T, Chan C, Tsao S, et al. Antiobesity effect of Lactobacillus reuteri 263 associated with energy metabolism remodeling of white adipose tissue in high-energy-diet-fed rats. J Nutr Biochem. 2018;54:87-94 pubmed publisher
    ..groups of Sprague-Dawley rats (n=10/group), namely, C (normal diet with vehicle treatment), HE [high-energy diet (HED) with vehicle treatment], 1X (HED with 2.1×109 CFU/kg/day of L. reuteri 263) and 5X (HED with 1...
  18. Mroue R, INMAN J, Mott J, Budunova I, Bissell M. Asymmetric expression of connexins between luminal epithelial- and myoepithelial- cells is essential for contractile function of the mammary gland. Dev Biol. 2015;399:15-26 pubmed publisher
    ..of some Cx subtypes in the heterotypic gap junctions is not symmetrical; in the murine mammary gland, Cx26, Cx30 and Cx32 are expressed only in the luminal epithelial cells and Cx43 is expressed only in myoepithelial cells...
  19. Amissi S, Boisramé Helms J, Burban M, Rashid S, León González A, Auger C, et al. Lipid Emulsions Containing Medium Chain Triacylglycerols Blunt Bradykinin-Induced Endothelium-Dependent Relaxation in Porcine Coronary Artery Rings. Lipids. 2017;52:235-243 pubmed publisher
    ..endothelium-dependent relaxation, affecting both the nitric oxide (NO) and endothelium-dependent hyperpolarization (EDH) components, whereas, Intralipid® containing LCT (soybean oil) and ClinOleic® ..
  20. Chandrupatla D, Molthoff C, Ritsema W, Vos R, Elshof E, Matsuyama T, et al. Prophylactic and therapeutic activity of alkaline phosphatase in arthritic rats: single-agent effects of alkaline phosphatase and synergistic effects in combination with methotrexate. Transl Res. 2018;199:24-38 pubmed publisher
    ..outcome, macrophage infiltration in knees, liver, and spleen was assessed by immunohistochemistry (ED1 and ED2 expression), immunofluoresence (macrophage marker folate receptor-? [FR?]), and [18F]fluoro-polyethylene ..
  21. Dunn S, Hilgers R, Das K. Decreased EDHF-mediated relaxation is a major mechanism in endothelial dysfunction in resistance arteries in aged mice on prolonged high-fat sucrose diet. Physiol Rep. 2017;5: pubmed publisher
    ..stiffness, reduced myogenic tone, impaired vasodilation, increased contractility and blunted nitric oxide (NO) and EDH-mediated relaxations...
  22. Kutkowska Kaźmierczak A, Niepokój K, Wertheim Tysarowska K, Giza A, Mordasewicz Goliszewska M, Bal J, et al. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. J Appl Genet. 2015;56:329-37 pubmed publisher
    ..KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively...
  23. Choi M, Park H, Cho S, Lee M. Vitamin D3 supplementation modulates inflammatory responses from the muscle damage induced by high-intensity exercise in SD rats. Cytokine. 2013;63:27-35 pubmed publisher
    ..C: n=10), (2) high-intensity exercise (HE: n=10), and (3) high-intensity exercise with vitamin D supplementation (HED: n=10; i.p. 1000 IU/kg body weight)...
  24. Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, D Eustacchio A, et al. Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. PLoS ONE. 2013;8:e80323 pubmed publisher
    ..GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a ..
  25. D Assante R, Fusco A, Palamaro L, Giardino G, Gallo V, Cirillo E, et al. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies. Int Rev Immunol. 2016;35:25-38 pubmed publisher
    ..Ectodermal dysplasia (ED) is a group of rare disorders that affect tissues of ectodermal origin. Hypoidrotic ED (HED), the most common form, is inherited as autosomal dominant, autosomal recessive or X-linked trait (XLHED)...
  26. Nielsen B, Hansen D, Ransom B, Nielsen M, MacAulay N. Connexin Hemichannels in Astrocytes: An Assessment of Controversies Regarding Their Functional Characteristics. Neurochem Res. 2017;42:2537-2550 pubmed publisher
    ..in the mammalian central nervous system are interconnected by gap junctions made from connexins of the subtypes Cx30 and Cx43...
  27. Chen J, Zhu Y, Liang C, Chen J, Zhao H. Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing. Sci Rep. 2015;5:10762 pubmed publisher
    ..Moreover, defect of connexin hemichannels by deletion of connexin26 (Cx26) and Cx30, which are predominant connexin isoforms in the cochlea, did not reduce ATP release under physiological conditions...
  28. Lee M, Takada T, Takada Y, Kappy M, Beyer L, Swiderski D, et al. Mice with conditional deletion of Cx26 exhibit no vestibular phenotype despite secondary loss of Cx30 in the vestibular end organs. Hear Res. 2015;328:102-12 pubmed publisher
    ..by another connexin explains survival of the normal vestibular sensory epithelium, we evaluated the presence of Cx30 in the Gjb2-CKO mouse...
  29. Azar A, Piccinelli C, Brown H, Headon D, Cheeseman M. Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology. Hum Mol Genet. 2016;25:3564-3577 pubmed publisher
    Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and ..
  30. Johnson S, Ceriani F, Houston O, Polishchuk R, Polishchuk E, Crispino G, et al. Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea. J Neurosci. 2017;37:258-268 pubmed publisher
    Mutations in the genes encoding for gap junction proteins connexin 26 (Cx26) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans...
  31. Wong S, Wang W, Chen P, Li S, Yang J. Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene. Int J Med Sci. 2017;14:246-256 pubmed publisher
    ..W77S, in the GJC3 gene encoding connexin30.2/connexin31.3 (CX30.2/CX31.3) from patients with hearing loss. The functional alteration of CX30.2/CX31.3 caused by the p...
  32. Ross S, Novak Z, Kumbla R, Zhang K, Fowler K, Boppana S. GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection. Pediatr Res. 2007;61:687-91 pubmed
    ..We examined gap junction protein beta-2 (GJB2) and gap junction protein beta-6 (GJB6) mutations in 149 children with congenital CMV infection and 380 uninfected neonates...
  33. Poonawalla T, Xia L, Patten S, Stratman E. Clouston syndrome and eccrine syringofibroadenomas. Am J Dermatopathol. 2009;31:157-61 pubmed publisher
    ..are uncommon disorders that have been reported together rarely and only before the discovery of the GJB6 gene for Clouston syndrome...
  34. Sasaki E, Iida A, Oda S, Tsuneyama K, Fukami T, Nakajima M, et al. Pathogenetic analyses of carbamazepine-induced liver injury in F344 rats focused on immune- and inflammation-related factors. Exp Toxicol Pathol. 2016;68:27-38 pubmed publisher
    ..The number of ED1- and ED2-positive macrophages was increased in injured centrilobular areas in the liver with CBZ-induced liver injury...
  35. Wong K, Raffel D, Bohnen N, Altinok G, Gilman S, Frey K. 2-Year Natural Decline of Cardiac Sympathetic Innervation in Idiopathic Parkinson Disease Studied with 11C-Hydroxyephedrine PET. J Nucl Med. 2017;58:326-331 pubmed publisher
    ..sympathetic denervation in idiopathic Parkinson disease (IPD) using 11C-hydroxyephedrine (11C-HED) PET and determine the denervation rate over 2 y...
  36. Podzus J, Kowalczyk Quintas C, Schuepbach Mallepell S, Willen L, Staehlin G, Vigolo M, et al. Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia. J Dent Res. 2017;96:217-224 pubmed publisher
    ..Inactivating mutations in Eda or Edar cause hypohidrotic ectodermal dysplasia (HED), a condition characterized by malformations of the teeth, hair and glands, with milder deficiencies affecting only ..
  37. Smoyak S, Swarbrick M, Nowik K, Ancheta A, Lombardo A. Consumers of Mental Health Services: Their Knowledge, Attitudes, and Practices About High Energy Drinks and Drugs. J Psychosoc Nurs Ment Health Serv. 2017;55:37-43 pubmed publisher
    To date, whether individuals with mental illness use high energy drinks (HED) to offset their symptoms, or whether their use began after diagnosis or psychoactive drugs were prescribed is unknown...
  38. Ji C, Zhang X, Yan X, Mostafizar Rahman M, Prates L, Yu P. Bio-functions and molecular carbohydrate structure association study in forage with different source origins revealed using non-destructive vibrational molecular spectroscopy techniques. Spectrochim Acta A Mol Biomol Spectrosc. 2017;183:260-266 pubmed publisher
    ..bio-functions in terms of CHO rumen degradation characteristics and hourly effective degradation ratio of N to OM (HEDN/OM), and 3) quantify interactive association between molecular structures, bio-functions and nutrient ..
  39. Tey S, Salleh N, Henry C, Forde C. Effects of Consuming Preloads with Different Energy Density and Taste Quality on Energy Intake and Postprandial Blood Glucose. Nutrients. 2018;10: pubmed publisher
    ..participants were asked to consume a sweet ("Cheng Teng") or a savoury (broth) preload soup in high energy density (HED; around 0.50 kcal/g; 250 kcal) or low energy density (LED; around 0...
  40. Yuan Y, Zhang X, Huang S, Zuo L, Zhang G, Song Y, et al. Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment. PLoS ONE. 2012;7:e30720 pubmed publisher
    ..Five prominent deafness-related genes, GJB2, SLC26A4, GJB6, POU3F4, and mtDNA 12S rRNA, were analyzed. Inner ear development was evaluated by temporal CT...
  41. Gaynullina D, Shestopalov V, Panchin Y, Tarasova O. Pannexin 1 facilitates arterial relaxation via an endothelium-derived hyperpolarization mechanism. FEBS Lett. 2015;589:1164-70 pubmed publisher
    ..We hypothesized that Panx1 facilitates large vessel relaxations regulating endothelium-derived hyperpolarization (EDH)-like mechanisms...
  42. Madkour A, Jackson K, Wang H, Miles T, MATHER F, Shankar A. Perceived Discrimination and Heavy Episodic Drinking Among African-American Youth: Differences by Age and Reason for Discrimination. J Adolesc Health. 2015;57:530-6 pubmed publisher
    ..of this study was to examine whether associations between perceived discrimination and heavy episodic drinking (HED) vary by age and by discrimination type (e.g., racial, age, physical appearance) among African-American youth...
  43. Fitzpatrick B, Martinez J, Polidan E, Angelis E. On the Effectiveness of Social Norms Intervention in College Drinking: The Roles of Identity Verification and Peer Influence. Alcohol Clin Exp Res. 2016;40:141-51 pubmed publisher
    ..We observe a general reduction in heavy episodic drinking (HED) as students are affected by the intervention...
  44. Kim R, Chang G, Hu R, Phillips A, Douglas R. Connexin gap junction channels and chronic rhinosinusitis. Int Forum Allergy Rhinol. 2016;6:611-7 pubmed publisher
    ..profile of the connexin family of genes, and second to compare the level of expression of 3 key connexins (Cx26, Cx30, and Cx43) in CRS and normal sinus mucosa...
  45. Peralta R, L Mulhollem M, Blue C, Stewart B. The Association Between Heavy Episodic Drinking and Gender Orientation Among U.S. College Students: The Significance of Masculinity. Subst Use Misuse. 2017;:1-11 pubmed publisher
    Heavy episodic drinking (HED) remains a public health concern among college students. Sex differences are routinely reported in the literature although some evidence of convergence in drinking patterns has been observed...
  46. Ozawa H, Matsunaga T, Kamiya K, Tokumaru Y, Fujii M, Tomita T, et al. Decreased expression of connexin-30 and aberrant expression of connexin-26 in human head and neck cancer. Anticancer Res. 2007;27:2189-95 pubmed
    ..The expression of connexin-26 (Cx26) and connexin-30 (Cx30) in human head and neck carcinomas, as well as in adjacent normal mucosa, was evaluated by immunohistochemistry...
  47. García I, Bosen F, Mujica P, Pupo A, Flores Muñoz C, Jara O, et al. From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. J Invest Dermatol. 2016;136:574-83 pubmed publisher
    ..KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively...
  48. Arun S, Ravisankar S, Vanisree A. Implication of connexin30 on the stemness of glioma: connexin30 reverses the malignant phenotype of glioma by modulating IGF-1R, CD133 and cMyc. J Neurooncol. 2017;135:473-485 pubmed publisher
    ..Following our earlier in vitro observation, in this work, we aimed to study the consequence of this influence of Cx30 on IGF-1R by evaluating the marker of GSCs, CD133 and oncoprotein, cMyc...
  49. Silva T, Jimenez C, Ieda E, Abdalla A, Louvandini H. Phosphorus kinetics in lambs experimentally infected with Trichostrongylus colubriformis with the use of 32P. Exp Parasitol. 2018;188:13-20 pubmed publisher
    ..VaT) of P in infected lambs, there was, consequently, lower distribution to bones and soft tissues (VeD2) and lower P deposition in the bones (VO+D)...
  50. Lee S, Park S, Joo B, Lee J, Kong D, Park K. A surgical strategy to prevent delayed epidural hematoma after posterior fossa surgery using lateral suboccipital retrosigmoid approach. J Clin Neurosci. 2018;52:156-158 pubmed publisher
    Although non-traumatic postoperative delayed epidural hematoma (EDH) after posterior fossa surgery is rare, measures to prevent it need to be pursued due to its catastrophic results...
  51. Propst E, Stockley T, Gordon K, Harrison R, Papsin B. Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. Int J Pediatr Otorhinolaryngol. 2006;70:435-44 pubmed
    To determine the relationship between ethnicity and mutations in the GJB2 and GJB6 genes in multi-cultural patients enrolled in a Canadian paediatric Cochlear Implant Program...
  52. Bhalla S, Sharma R, Khandelwal G, Panda N, Khullar M. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. Biochem Biophys Res Commun. 2009;385:445-8 pubmed publisher
    Mutations at the DFNB1 locus which encode connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively, are main cause for sporadic and familial non-syndromic hearing impairment (NSHI) in many populations...
  53. Wonkam A, Bosch J, Noubiap J, Lebeko K, Makubalo N, Dandara C. No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans. S Afr Med J. 2015;105:23-6 pubmed
    ..Two other connexin genes, GJB6 (connexin 30) and GJA1 (connexin 43), have been implicated in hearing loss, but these genes have seldom been investigated in ..
  54. Adedipe A, Fly D, Schwitz S, Jorgenson D, Duric H, Sayre M, et al. Carotid Doppler blood flow measurement during cardiopulmonary resuscitation is feasible: A first in man study. Resuscitation. 2015;96:121-5 pubmed publisher
    ..chest compressions with transverse and longitudinal color flow and Doppler using a portable ultrasound machine (CX30, Philips Healthcare., Andover, MA)...
  55. Quesseveur G, Portal B, Basile J, Ezan P, Mathou A, Halley H, et al. Attenuated Levels of Hippocampal Connexin 43 and its Phosphorylation Correlate with Antidepressant- and Anxiolytic-Like Activities in Mice. Front Cell Neurosci. 2015;9:490 pubmed publisher
    ..Both GJCs and HCs are formed by two main protein subunits: connexins (Cx) 30 and 43 (Cx30 and Cx43)...
  56. Muñoz M, López Oliva M, Pinilla E, Martínez M, Sánchez A, Rodríguez C, et al. CYP epoxygenase-derived H2O2 is involved in the endothelium-derived hyperpolarization (EDH) and relaxation of intrarenal arteries. Free Radic Biol Med. 2017;106:168-183 pubmed publisher
    ..like hydrogen peroxide (H2O2) are involved in the in endothelium-derived hyperpolarization (EDH)-type relaxant responses of coronary and mesenteric arterioles...
  57. Goldstein N, Koster M, Jones K, Gao B, Hoaglin L, Robinson S, et al. Repigmentation of Human Vitiligo Skin by NBUVB Is Controlled by Transcription of GLI1 and Activation of the ?-Catenin Pathway in the Hair Follicle Bulge Stem Cells. J Invest Dermatol. 2018;138:657-668 pubmed publisher
    ..Using this strategy, we found up-regulation of TNC, GJB6, and THBS1 in the hair follicle bulge melanocytes and of TYR in the epidermal melanocytes of the NBUVB-treated ..
  58. Battelino S, Repic Lampret B, Zargi M, Podkrajšek K. Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss. J Laryngol Otol. 2012;126:763-9 pubmed publisher
    ..35delG mutation responsible for 56 per cent of the mutated alleles. A novel gap junction protein beta-6 gene ('GJB6') mutation (p.Met203Val) was observed in one patient with mild progressive hearing loss...
  59. Sugiura K, Teranishi M, Matsumoto Y, Akiyama M. Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. JAMA Dermatol. 2013;149:1350-1 pubmed publisher
  60. Mazaré N, Gilbert A, Boulay A, Rouach N, Cohen Salmon M. Connexin 30 is expressed in a subtype of mouse brain pericytes. Brain Struct Funct. 2018;223:1017-1024 pubmed publisher
    ..Here, we demonstrate that a fraction of brain pericytes express Connexin 30 (Cx30), a gap junction protein, which, in the brain parenchyma, was thought to be exclusively found in ..
  61. Battini S, Mannava M, Nangia A. Improved Stability of Tuberculosis Drug Fixed-Dose Combination Using Isoniazid-Caffeic Acid and Vanillic Acid Cocrystal. J Pharm Sci. 2018;107:1667-1679 pubmed publisher
    ..4 tuberculosis drugs, namely rifampicin (RIF), isoniazid (INH), pyrazinamide (PZA), and ethambutol dihydrochloride (EDH) has the twin issues of physical stability and RIF cross-reaction in the 4-FDC...
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    ..or only one mutated allele in GJB2, however, some subjects can exhibit a large deletion in another connexin gene, GJB6, resulting in a monogenic or digenic pattern of inheritance in this complex DFNB1 locus that contains both genes (..
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    ..in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness...
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    ..multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-..
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    ..35delG and del(GJB6-D13S1830) are thought to be two common mutations in this locus among Caucasians...
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    ..Additionally we report significant associations in GJB1, GJB2, GJB4, KCNJ10 and KCNQ1, however due to the lack of replication in the Swedish sample set, these results should be seen as suggestive. ..
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    ..The audiometric standard of these hearing losses remains inconsistent and other genes, such as GJB6, have been involved in association with GJB2...
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    The DFNB1 locus, which contains the gap junction beta-2 (GJB2) and gap junction beta-6 (GJB6) genes, plays a key role in the nonsyndromic and sporadic hearing impairment...
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    Hearing loss is a serious sensory defect in the world. Mutations in the GJB2 and GJB6 genes are the major causes of autosomal recessive nonsyndromic hearing loss (NSHL)...
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    ..Mutations frequently found among deaf individuals were investigated (35delG, 167delT in GJB2, ?(GJB6- D13S1830), ?(GJB6- D13S1854) in GJB6 and A1555G in MT-RNR1 genes); allelic and genotypic frequencies were also ..
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    ..Interestingly, Cx26, Cx30, Cx43, and Panx2 were up-regulated in Panx3-/- mice compared with wild-type and/or Panx1-/- ..
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    ..for a 342-kb deletion (Delta(GJB6-D13S1830)) involving a large portion of the 5'-part of GJB6, encoding connexin 30, and a GJB2 mutation develop NSHL due to a trait with a digenic pattern of inheritance...
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    ..Connexins (Cx26 encoded by GJB2, Cx31 encoded by GJB3 and Cx30 encoded by GJB6) are core components of gap junctions in the inner ear...
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