Genomes and Genes
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
Publications316 found, 100 shown here
- Psychosocial stress and adaptive functioning in children and adolescents suffering from hypohidrotic ectodermal dysplasiaP Hummel
Department of Child and Adolescent Psychiatry, , Germany
Pediatr Dermatol 14:180-5. 1997In its fully manifest form, hypohidrotic ectodermal dysplasia (HED) leads to a typical dysmorphia of the face, referred to as "old man" facies...
- 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. 2009..However, 10-40% of the patients carry only one pathogenic mutation in the GJB2 gene. Deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), truncating the GJB6 gene, have been detected in GJB2 heterozygous patients in ..
- Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locusA Grifa
Nat Genet 23:16-8. 1999
- Mutations in GJB6 cause hidrotic ectodermal dysplasiaJ Lamartine
Laboratoire de Génomique et Radiobiologie du Kératinocyte EA 2541 Université d Evry CEA, Service de Génomique Fonctionnelle, Departement de Radiobiologie et Radiopathologie, Evry, France
Nat Genet 26:142-4. 2000
- 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..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...
- 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..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...
- Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio del Castillo
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
Am J Hum Genet 73:1452-8. 2003..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 ..
- Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammalsAndrew Forge
UCL Centre for Auditory Research and Institute of Laryngology and Otology, University College London, London WC1X 8EE, United Kingdom
J Comp Neurol 467:207-31. 2003..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...
- Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healingJohanna M Brandner
Department of Dermatology and Venerology, University Hospital Hamburg Eppendorf, Hamburg, Germany
J Invest Dermatol 122:1310-20. 2004..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 (..
- Human connexin26 and connexin30 form functional heteromeric and heterotypic channelsSabrina W Yum
Section of Neurology, St Christopher s Hospital For Children, Erie Ave at Front St, Philadelphia, PA 19134, USA
Am J Physiol Cell Physiol 293:C1032-48. 2007Mutations in GJB2 and GJB6, the genes that encode the human gap junction proteins connexin26 (Cx26) and connexin30 (Cx30), respectively, cause hearing loss...
- 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...
- A deletion involving the connexin 30 gene in nonsyndromic hearing impairmentIgnacio del Castillo
Unidad de Genetica Molecular, Hospital Ramon y Cajal, Madrid, Spain
N Engl J Med 346:243-9. 2002..However, a large fraction (10 to 42 percent) of patients with GJB2 mutations have only one mutant allele; the accompanying mutation has not been identified. DFNB1-linked familial cases with no mutation in GJB2 have also been reported...
- GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE reviewAileen Kenneson
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341 3724, USA
Genet Med 4:258-74. 2002..These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity...
- Functional studies of human skin disease- and deafness-associated connexin 30 mutationsJohn E A Common
Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, UK
Biochem Biophys Res Commun 298:651-6. 2002b>Connexin 30 (Cx30) is a component of the gap junction complex...
- Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cellsMartina Beltramello
Venetian Institute of Molecular Medicine, Padova University, via G Orus 2, Padua 35129, Italy
Biochem Biophys Res Commun 305:1024-33. 2003....
- Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann
Service de Biochimie et de Biologie Moléculaire, Hopital d Enfants Armand Trousseau, INSERM U587, AP HP, Paris, France
Am J Med Genet A 127:263-7. 2004Recent 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...
- 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..Heterozygous mutations in GJB2 occasionally co-occur with a deletion of part of GJB6 (connexin 30; Cx30)...
- 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 ..
- Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing lossRita Teek
Department of Oto Rhino Laryngology, University of Tartu, Tartu, Estonia
Int J Pediatr Otorhinolaryngol 73:103-7. 2009..The aim of our study was to identify the IVS2-2A>G sequence change in the SLC26A5 (Prestin) gene in Estonian individuals with hearing loss and in their family members...
- The role of the cytoskeleton in the formation of gap junctions by Connexin 30Chunyan Qu
Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA
Exp Cell Res 315:1683-92. 2009Mutations in the genes that encode Connexin 26 (GJB2) and Connexin 30 (GJB6) are the most common known cause of hereditary nonsyndromic sensorineural deafness...
- 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. 2009Connexin 26 and connexin 30 are the major connexins expressed in the cochlea, where they are co-localized and form heteromeric gap junctions...
- 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..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...
- Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlationJiann jou Yang
Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
Hum Genet 128:303-13. 2010..These data can be effectively applied to direct the clinical evaluation of children with CX gene variants...
- mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouseSubhash C Juneja
Department of Zoology, The University of Western Ontario, London, Canada
Indian J Physiol Pharmacol 47:147-56. 2003..5 dpc knockout (Cx43-/-) fetuses. The mRNA expression pattern of connexins (Cx26, Cx30.3, Cx31, Cx31.1, Cx32, Cx37, Cx40, Cx43, Cx45, Cx46 and Cx50) was analyzed by RT-PCR...
- Ablation of Cx47 in transgenic mice leads to the loss of MUPP1, ZONAB and multiple connexins at oligodendrocyte-astrocyte gap junctionsXinbo Li
Department of Physiology, Faculty of Medicine, University of Manitoba, Manitoba, Canada
Eur J Neurosci 28:1503-17. 2008..in CNS are linked to astrocytes by heterotypic gap junctions composed of Cx32 and Cx47 in oligodendrocytes and Cx30 and Cx43 in astrocytes. These gap junctions also harbour regulatory proteins, including ZO-1 and ZONAB...
- Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout miceJ I Nagy
Department of Physiology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada
Glia 44:205-18. 2003..These oligodendrocyte/astrocyte (A/O) gap junctions contain multiple connexins (Cx), including Cx26, Cx30, and Cx43 on the astrocyte side, and Cx32, Cx29, and Cx47 on the oligodendrocyte side...
- Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brainX Li
Department of Physiology, Faculty of Medicine, University of Manitoba, 730 William Avenue, Winnipeg, Manitoba, Canada R3E 3J7
Neuroscience 126:611-30. 2004Gap junctions between glial cells in mammalian CNS are known to contain several connexins (Cx), including Cx26, Cx30 and Cx43 at astrocyte-to-astrocyte junctions, and Cx29 and Cx32 on the oligodendrocyte side of astrocyte-to-..
- GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counselingKlemens Frei
Department of Otorhinolaryngology, Medical University of Vienna, Austria
Laryngoscope 115:461-5. 2005..Alterations in the gap junction protein beta 2 (GJB2) and gap junction protein beta 6 (GJB6) are associated with nonsyndromic hearing impairment and should have a significant impact on genetic counseling.
- Expression and modulation of connexin 30.2, a novel gap junction protein in the mouse retinaLuis Pérez de Sevilla Müller
Department of Neurobiology, University of Oldenburg, Oldenburg, Germany
Vis Neurosci 27:91-101. 2010..Here, we present an analysis of a novel retinal connexin, connexin 30.2 (Cx30.2), and its regulation in the mouse retina. To analyze the expression of Cx30...
- Deletion of astrocyte connexins 43 and 30 leads to a dysmyelinating phenotype and hippocampal CA1 vacuolationSarah E Lutz
Department of Pathology, Albert Einstein College of Medicine, Bronx, New York 10461, USA
J Neurosci 29:7743-52. 2009Astrocytes are coupled via gap junctions (GJs) comprising connexin 43 (Cx43) (Gja1) and Cx30 (Gjb6), which facilitate intercellular exchange of ions. Astrocyte connexins also form heterotypic GJs with oligodendrocytic somata and lamellae...
- The extracellular matrix controls gap junction protein expression and function in postnatal hippocampal neural progenitor cellsSophie Imbeault
Neural Regeneration Laboratory and Ottawa Institute of Systems Biology, Dept of Biochemistry, Microbiology, and Immunology, University of Ottawa, ON, Canada
BMC Neurosci 10:13. 2009..It is not known how these two signalling systems interact. Here, we examined the role of ECM components in regulating connexin expression and function in postnatal hippocampal progenitor cells...
- 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...
- Specific localization of lysosomal aminopeptidases in type II alveolar epithelial cells of the rat lungY Yayoi
Department of Cell Biology and Neuroscience, Osaka University Graduate School of Medicine, Suita, Japan
Arch Histol Cytol 64:89-97. 2001..Moreover, when doubly stained with anti-cathepsin C and ED2, single-positive type II cells could be clearly distinguished from double-positive macrophages in the alveolar ..
- Hypohidrotic ectodermal dysplasia: dental features and carriers detectionD Glavina
Department of Pedodontics, School of Dental Medicine, University of Zagreb, Croatia
Coll Antropol 25:303-10. 2001..of dental traits in five families (affected boys and their mothers) with hypohidrotic ectodermal dysplasia (HED), and to evaluate the importance of orofacial and dental findings in the determination of female HED gene carriers...
- Sensorineural hearing loss in Jewish children born in JerusalemHaya Levi
Department of Otolaryngology, Speech and Hearing Center, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Int J Pediatr Otorhinolaryngol 68:1245-50. 2004....
- Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)V P Sybert
Department of Pediatrics (Medical Genetics, University of Washington School of Medicine, Seattle
Pediatr Dermatol 6:76-81. 1989Hypohidrotic ectodermal dysplasia (HED) is a well-described, X-linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males...
- Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practiceJuan Rodriguez-Paris
Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America
PLoS ONE 5:e11804. 2010..Hearing Loss Arrayed Primer Extension microarray enables analysis of 198 mutations across eight genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, MTRNR1 and MTTS1) in a single test...
- Environmental Protection Agency risk assessment--process and toxicologic pathologyM P Copley
U S Environmental Protection Agency 7509C, Health Effects Division, Washington, D C 20460, USA
Toxicol Pathol 25:68-71. 1997..A Health Effects Division (HED) scientist reviews the reports...
- Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1FFatima Ammar-Khodja
Department of Molecular and Cell Biology, University of USTHB, El Alia, Bab Ezzouar, Algiers, Algeria
Eur J Med Genet 52:174-9. 2009..Mutations at the DFNB1 locus (encompassing the GJB2 and GJB6 genes) are responsible for more than half of autosomal recessive prelingual non-syndromic deafness in various ..
- Phenotypic characterization of mononuclear inflammatory cells in salivary glands of bio-breeding ratsR E Cohen
Department of Periodontology, School of Dental Medicine, University at Buffalo, NY 14214, USA
Arch Oral Biol 42:649-55. 1997..was used to identify membrane antigens associated primarily with monocytes (ED1), mature tissue macrophages (ED2), lymphoid macrophages (ED3), MHC class II (Ia) antigen (OX6), CD5+ T lymphocytes (OX19), and rat B lymphocytes (..
- Alterations in the incisor development in the Tabby mouseS Miard
INSERM U424, Institut de Biologie Medicale, Faculte de Medecine, Strasbourg, France
Int J Dev Biol 43:517-29. 1999The X-linked tabby (Ta) syndrome in the mouse is homologous to the hypohidrotic ectodermal dysplasia (HED) in humans. As in humans with HED, Ta mice exhibit hypohidrosis, characteristic defects of hairs and tooth abnormalities...
- Analysis of the cellular infiltration of benzyl-esterified hyaluronan sponges implanted in ratsNicholas P Rhodes
U K Centre for Tissue Engineering, Department of Clinical Engineering, University of Liverpool, Daulby Street, Liverpool L69 3GA, U K
Biomacromolecules 8:2733-8. 2007..for the specific identification of cell types and subpopulations, targeting immature (ED1) and mature macrophages (ED2), MHC-I subset, MHC-II subset, CD54, T-cell alpha-beta receptor, T-cell gamma-delta receptor, CD2, CD4, CD8, ..
- Analysis of connexin subunits required for the survival of vestibular hair cellsYan Qu
Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia 30322 3030, USA
J Comp Neurol 504:499-507. 2007..The most commonly found human Cx mutations are either Cx26 or Cx30 deletions...
- Whole-body PET/CT with 11C-meta-hydroxyephedrine in tumors of the sympathetic nervous system: feasibility study and comparison with 123I-MIBG SPECT/CTChristiane Franzius
Department of Nuclear Medicine, University Hospital, Munster, Germany
J Nucl Med 47:1635-42. 2006The 11C-labeled tracer meta-hydroxyephedrine (11C-HED) is a noradrenaline analog that was developed to visualize the sympathetic nervous system with PET...
- Maturation of rat dendritic cells during intrahepatic translocation evaluated using monoclonal antibodies and electron microscopyT Sato
Department of Anatomy Division I, School of Medicine, Tokyo Medical and Dental University, 1 5 45, Yushima, Bunkyo ku, Tokyo 113 0034, Japan
Cell Tissue Res 294:503-14. 1998..stained with monoclonal antibodies that recognize monocytes/macrophages (ED1), tissue macrophages (Kupffer cells) (ED2), MHC class II (Ia) antigen (MRC OX6), and dendritic cells/gamma,delta T-cells (MRC OX62) and analyzed by light and ..
- Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three casesB Kargul
Department of Pediatric Dentistry, Dental School, Marmara University, Istanbul, Turkey
J Clin Pediatr Dent 26:5-12. 2001Patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy...
- Nitric oxide mediates the lipopolysaccharide dependent upregulation of the heme oxygenase-1 gene expression in cultured rat Kupffer cellsS Immenschuh
Zentrum Innere Medizin, Abteilung Gastroenterologie und Endokrinologie, Georg August Universitat Gottingen, Germany
J Hepatol 30:61-9. 1999..The goal of the present study was to investigate the heme oxygenase-1 gene expression in Kupffer cells of rat liver and in isolated Kupffer cell cultures during treatment with lipopolysaccharide...
- Vestibular dysfunction in DFNB1 deafnessKelley M Dodson
Department of Otolaryngology, Virginia Commonwealth University, Richmond, USA
Am J Med Genet A 155:993-1000. 2011Mutations of GJB2 and GJB6 (connexin-26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness...
- A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)J Zonana
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97221, USA
Am J Hum Genet 67:1555-62. 2000Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist...
- 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)...
- Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in TaiwanJiann jou Yang
Genetics Laboratory and Department of BioMedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
Audiol Neurootol 12:198-208. 2007..These genes included Cx26 (GJB2), Cx29 (GJE1), Cx30 (GJB6), Cx30.3 (GJB4), Cx31 (GJB3), Cx32 (GJB1), Cx43 (GJA1) and pseudogene [rho] of Cx43 (rho GJA1)...
- Gap junctions and connexins in the inner ear: their roles in homeostasis and deafnessRegina Nickel
Centre for Auditory Research, UCL Ear Institute, University College London, London, UK
Curr Opin Otolaryngol Head Neck Surg 16:452-7. 2008Mutations in GJB2 and GJB6, the genes encoding the gap-junction proteins connexin 26 and connexin 30, are the most common cause of autosomal recessive nonsyndromic deafness in many populations across the world...
- Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafnessMelissa de Freitas Cordeiro-Silva
Laboratório de Genética e Biologia Molecular, Faculdades Integradas São Pedro FAESA, Rodovia Serafim Derenzi, 3115, São Pedro, 29048 450, Vitoria, ES, Brazil
Mol Biol Rep 38:1309-13. 2011..is the most frequent one, occurring in homozygosity or in compound heterozygosity with mutations in the GJB2 and GJB6 genes...
- 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..been shown to underlie distinct genetic forms of deafness, including GJB2 [connexin 26 (Cx26)], GJB3 (Cx31), GJB6 (Cx30) and GJB1 (Cx32)...
- Effects of a popular exercise and weight loss program on weight loss, body composition, energy expenditure and health in obese womenChad Kerksick
Department of Health and Kinesiology, Texas A and M University, College Station, Texas 77843, USA
Nutr Metab (Lond) 6:23. 2009..To determine the safety and efficacy of altering the ratio of carbohydrate and protein in low-energy diets in conjunction with a popular exercise program in obese women...
- Abnormalities of cardiac sympathetic innervation in arrhythmogenic right ventricular cardiomyopathy : quantitative assessment of presynaptic norepinephrine reuptake and postsynaptic beta-adrenergic receptor density with positron emission tomographyT Wichter
Hospital of the Westfälische Wilhelms University, Department of Cardiology and Angiology and Institute for Arteriosclerosis Research, Munster, Germany
Circulation 101:1552-8. 2000..Previous studies demonstrated abnormalities of the presynaptic uptake-1 assessed by (123)I-MIBG-single-photon emission computed tomography...
- A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasiaM R Moya-Quiles
Biochemistry and Clinical Genetic Centre, Virgen de la Arrixaca University Hospital, 30120, El Palmar, Murcia, Spain
Arch Dermatol Res 302:307-10. 2010Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterised by sparse hair, lack of sweat glands and malformation of teeth...
- In vivo PET imaging of cardiac presynaptic sympathoneuronal mechanisms in the ratDnyanesh N Tipre
Division of Nuclear Medicine, Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland 21287 0842, USA
J Nucl Med 49:1189-95. 2008..nervous system using 3 radiotracers that reflect different subcellular mechanisms: (11)C-meta-hydroxyephedrine (HED), a tracer of neuronal transport showing stable uptake and no washout in healthy humans; (11)C-phenylephrine (PHEN),..
- Sexual risk-taking behaviors, gambling, and heavy drinking among U.S. College athletesJiun Hau Huang
Institute of Health Policy and Management, College of Public Health, National Taiwan University, 17 Xu Zhou Road, Taipei 10055, Taiwan
Arch Sex Behav 39:706-13. 2010..sex and having multiple sex partners) in relation to levels of gambling problems and heavy episodic drinking (HED) status among U.S. college athletes. Data from a representative national sample of 20,739 U.S...
- PET measurement of cardiac and nigrostriatal denervation in Parkinsonian syndromesDavid M Raffel
Division of Nuclear Medicine, Department of Radiology, University of Michigan, Ann Arbor, Michigan, USA
J Nucl Med 47:1769-77. 2006..cardiac sympathetic neurons in patients with IPD, MSA, and PSP by using PET and (11)C-meta-hydroxyephedrine ((11)C-HED)...
- Low-density cells isolated from the rat thymus resemble branched cortical macrophages and have a reduced capability of rescuing double-positive thymocytes from apoptosis in the BB-DP ratVinod Sommandas
Department of Immunology, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
J Leukoc Biol 82:869-76. 2007..The isolated thymus, nonadherent, low-density cells appeared to be predominantly ED2(+) branched cortical macrophages and not OX62(+) thymus medullary and cortico-medullary dendritic cells...
- Utilization of recombinant activated factor VII for intracranial hematoma evacuation in coagulopathic nonhemophilic neurosurgical patients with normal international normalized ratiosShearwood McClelland
Department of Neurosurgery, University of Minnesota, Mayo Mail Code 96, 420 Delaware Street SE, Minneapolis, MN 55455, USA
Neurocrit Care 7:136-9. 2007..Patients undergoing chronic subdural hematoma (CSDH) or epidural hematoma (EDH) evacuation often have their coagulation status judged by preoperative international normalized ratio (INR)...
- Traumatic epidural hematomas in children and adolescents: outcome analysis in 39 consecutive unselected casesRuediger Gerlach
Department of Neurosurgery, Johann Wolfgang Goethe University, Frankfurt am Main, Germany
Pediatr Emerg Care 25:164-9. 2009..The aims of this analysis were to review the cause and outcome of pediatric EDH nowadays and to discuss outcome-related variables in a large consecutive series of surgically treated EDH in ..
- Connexin 30 is expressed in the mouse sino-atrial node and modulates heart rateDaniel Gros
Institut de Biologie du Developpement de Marseille Luminy, Universite de la Mediterranee, Marseille, France
Cardiovasc Res 85:45-55. 2010This study aimed at characterizing expression and the functional role of the Gjb6 gene, encoding for connexin 30 (Cx30) protein, in the adult mouse heart.
- Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia casesN Chassaing
INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F 31300 France
Br J Dermatol 162:1044-8. 2010Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of HED cases...
- 1Alpha,25-dihydroxy-2beta(3-hydroxypropoxy)vitamin D3 (ED-71) suppressed callus remodeling but did not interfere with fracture healing in rat femoraYongping Cao
Department of Orthopedic Surgery, Faculty of Medicine, Kagawa University, 1750 1 Ikenobe, Kita gun Kagawa 761 0793, Japan
Bone 40:132-9. 2007....
- The need for immediate computed tomography scan after emergency craniotomy for head injuryGabrielle M Paci
Division of Trauma, Scripps Mercy Hospital, San Diego, California, USA
J Trauma 64:326-33; discussion 333-4. 2008..Although repeat head computed tomography (CT) scans are a key component of the management of these patients, there is no consensus on the optimal timing of the initial postop CT...
- Stereospecificity of hydrogen transfer between progesterone and cofactor by human placental estradiol-17 beta dehydrogenaseJ A Pineda
Department of Obstetrics and Gynecology, Washington University School of Medicine, St Louis 63110
J Steroid Biochem Mol Biol 37:65-70. 1990We have previously shown that human placental estradiol-17 beta dehydrogenase (EC 188.8.131.52; 17 beta-EDH) catalyzes the conversion of estradiol-17 beta to estrone and stereospecifically reduces NAD+ to [4-pro-S]NADH, [( 4-B]NADH)...
- Zebrafish eda and edar mutants reveal conserved and ancestral roles of ectodysplasin signaling in vertebratesMatthew P Harris
Max Planck Institute for Developmental Biology, Tubingen, Germany
PLoS Genet 4:e1000206. 2008..These genes are frequently mutated in the human hereditary disease hypohidrotic ectodermal dysplasia (HED; OMIM 224900, 305100) that affects the development of integumentary appendages such as hair and teeth...
- Drinking patterns, drinking contexts and alcohol-related aggression among late adolescent and young adult drinkersSamantha Wells
Department of Epidemiology and Biostatistics, University of Western Ontario, Canada
Addiction 100:933-44. 2005The main objectives of this study were to determine: (1) the relative roles of heavy episodic drinking (HED), drinking frequency and drinking volume in explaining alcohol-related aggression and (2) whether drinking context variables (i.e...
- The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombinationM Margarida Souto-Carneiro
Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1560, USA
J Immunol 180:1040-9. 2008..individual peripheral B cells of patients with X-linked anhidrotic ectodermal dysplasia with hyper-IgM syndrome (HED-ID) who have deficient expression of the NF-kappaB essential modulator (NEMO/Ikkgamma)...
- A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasiaH Zhang
Department of Dermatology, Institute of Dermatology, No 1 Hospital, Anhui Medical University, Hefei, China
Clin Exp Dermatol 34:74-6. 2009Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked...
- A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infantsChristina G S Palmer
Department of Psychiatry and Biobehavioral Sciences, UCLA, Los Angeles, CA 90095, USA
Am J Med Genet A 149:1169-82. 2009..We report on results from a prospective, longitudinal study to determine the impact of genetic counseling and GJB2/GJB6 genetic testing on parental knowledge, attitudes, and beliefs about genetic testing...
- The kinetics and distribution of different macrophage populations in the developing rat skinVetnizah Juniantito
Laboratory of Veterinary Pathology, Graduate School of Life and Environmental Sciences, Osaka Prefecture University, Izumisano shi, Osaka, Japan
Histol Histopathol 25:985-94. 2010..dermis or perifollicular areas that were positive for ED1 (exudative macrophages with activated phagocytosis), ED2 (resident macrophages), and OX6 (antigen-presenting cells) were evaluated...
- Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasiaS Cambiaghi
Istituto di Scienze Dermatologiche, Centro per le Malattie Cutanee Ereditarie, IRCCS Ospedale Maggiore, University of Milan, Italy
Arch Dermatol 136:217-24. 2000Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated...
- Thrombolytic evacuation of post-craniotomy epidural haematomas using closed suction drains: a pilot studyJ Park
Department of Neurosurgery, Kyungpook National University, Daegu, Republic of Korea
Acta Neurochir (Wien) 150:359-66; discussion 366. 2008..As an effective treatment for post-craniotomy epidural haematomas (EDHs), a novel method of urokinase instillation using a closed suction drain is presented and the procedure feasibility and outcomes assessed...
- Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null miceQing Chang
Department of Otolaryngology, Emory University School of Medicine, Atlanta, GA, USA
PLoS ONE 3:e4088. 2008Connexin26 (Cx26) and connexin30 (Cx30) are two major protein subunits that co-assemble to form gap junctions (GJs) in the cochlea. Mutations in either one of them are the major cause of non-syndromic prelingual deafness in humans...
- Influence of Kupffer cell inactivation on cycloheximide-induced hepatic injuryKazuyoshi Kumagai
Medicinal Safety Research Laboratories, Daiichi Sankyo Co, Ltd, 717 Horikoshi, Fukuroi, Shizuoka 437 0065, Japan
Toxicology 241:106-18. 2007..A substantial diminution of the number of ED1- or ED2-positive cells was demonstrated in the GdCl(3)/CHX group compared to the CHX group...
- Age-associated increase of basal corticosterone levels decreases ED2high, NF-kappaBhigh activated macrophagesT Kizaki
Department of Hygiene, Kyorin University, School of Medicine, Mitaka, Tokyo
J Leukoc Biol 68:21-30. 2000The proportion of cells with a high density of ED2 (ED2high cells) in peritoneal cells from old rats was significantly lower than that from young rats...
- Morphological features of nerve terminal degeneration as part of the remodeling process in the motor endplate in adult musclesM Kawabuchi
Department of Anatomy and Cell Biology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Ultrastruct Pathol 24:279-89. 2000..Finally, immunohistochemical staining for antibodies to label macrophages (ED1 or ED2) has shown that nerve fiber-associated macrophages are located near the motor endplate...
- Relevance of connexin deafness (DFNB1) to human evolutionWalter E Nance
Department of Human Genetics, Virginia Commonwealth University, Richmond, VA, 23298, USA
Am J Hum Genet 74:1081-7. 2004..at >100 loci that can cause deafness, those involving DFNB1, in the interval 13q11-q12 containing the GJB2 and GJB6 genes coding for connexins 26 and 30, are the most frequent cause of recessive deafness in many populations...
- Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse modelsEmilie Hoang Dinh
Department of Otolaryngology, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322 3030, USA
Brain Res 1277:52-69. 2009..Cx26 and Cx30 are the predominant cochlear Cxs and they co-assemble in most GJ plaques to form hybrid GJs...
- Cx30.2 enhancer analysis identifies Gata4 as a novel regulator of atrioventricular delayNikhil V Munshi
Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390 9148, USA
Development 136:2665-74. 2009..We demonstrate that a distal enhancer for the connexin 30.2 (Cx30...
- DNA methylation analyses of the connexin gene family reveal silencing of GJC1 (Connexin45) by promoter hypermethylation in colorectal cancerSolveig Sirnes
Department of Cancer Prevention, Institute for Cancer Research, Radiumhospitalet Oslo University Hospital, Oslo, Norway
Epigenetics 6:602-9. 2011..All analyzed connexins were hypermethylated in colon cancer cell lines, although at various frequencies. GJA4, GJB6 and GJD2 were hypermethylated in 60% (29/48), 25% (12/48) and 96% (46/48) of primary colorectal carcinomas, ..
- Expected satiation after repeated consumption of low- or high-energy-dense soupPleunie S Hogenkamp
Top Institute Food and Nutrition, Wageningen, The Netherlands
Br J Nutr 108:182-90. 2012We investigated whether repeated consumption of a low-energy-dense (LED; 208 kJ/100 g) or high-energy-dense (HED; 645 kJ/100 g) soup modifies expectations relating to the satiating capacity of the food, and its subsequent intake...
- Heavy episodic drinking among dating partners: a longitudinal actor-partner interdependence modelAislin R Mushquash
Department of Psychology, Dalhousie University, Halifax, Nova Scotia, Canada
Psychol Addict Behav 27:178-83. 2013Heavy episodic drinking (HED) is a major health problem for young adults. Rates of HED have remained consistently high among young adults for the past two decades...
- Expression of connexin 30 and connexin 32 in hippocampus of rat during epileptogenesis in a kindling model of epilepsyBijan Akbarpour
Department of Physiology, Pasteur Institute of Iran, Tehran 131694 3551, Islamic Republic of Iran
Neurosci Bull 28:729-36. 2012..of the main regions involved in epileptogenesis and has a wide network of GJs between different cell types where Cx30 is expressed in astrocytes and Cx32 exists in neurons and oligodendrocytes...
- Postoperative epidural hematoma covering the galeal flap in pediatric patients with moyamoya disease: clinical manifestation, risk factors, and outcomesHyunho Choi
Department of Neurosurgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
J Neurosurg Pediatr 12:181-6. 2013Postoperative epidural hematoma (EDH), a blood collection between the inserted galeal flap and the overlying skull flap (epigaleal flap hematoma), is a frustrating complication of the surgical treatment of moyamoya disease (MMD) in ..
- Distinct permeation profiles of the connexin 30 and 43 hemichannelsDaniel Bloch Hansen
Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark
FEBS Lett 588:1446-57. 2014..In contrast, permeability of glutamate, glucose and ATP was observed in oocytes expressing Cx30. Exposure to divalent cation free solutions induced a robust membrane conductance in Cx30-expressing oocytes but ..
- Endothelium-dependent hyperpolarizations; Quo vadis?Michel Feletou
Institut de Recherches Servier, Suresnes, France and Li Ka Shing Faculty of Medicine, Hong Kong, China
Acta Physiol (Oxf) . 2016In September 2015, a meeting on "Endothelium-Dependent Hyperpolarizations (EDH) in Health and Disease" took place in Nyborg, on the island of Fyn, Denmark...
- Purification and characterization of two-domain glutaredoxin in the parasitic helminth Fasciola giganticaAnkita Gupta
Molecular and Structural Biophysics Laboratory, Department of Biochemistry, North Eastern Hill University, Shillong 793022, India
Parasitol Int . 2016..Additionally, FgGrx did not show any GSH-disulfide transhydrogenase activity when 2-hydroxyethyl disulfide (HED) or de-hydroascorbate (DHA) were taken as substrates...
- A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C)P Guilford
Unite de Genetique Moleculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France
Genomics 29:163-9. 1995Two forms of inherited childhood nonsyndromic deafness (DFNB1 and DFNA3) and a Duchenne-like form of progressive muscular dystrophy (LGMD2C) have been mapped to the pericentromeric region of chromosome 13...
- Isolation and primary culture of rat Kupffer cellsJ K Olynyk
University Department of Medicine, Fremantle Hospital, Western Australia, Australia
J Gastroenterol Hepatol 13:842-5. 1998..Kupffer cell fractions isolated at 48 and 60 mL/min were predominantly ED2 negative while later fractions (80-110 mL/min) were ED2 positive. Kupffer cells were adherent in culture after 2 h...
- Isolated extradural hematoma in children presenting to an emergency department in AustraliaGary J Browne
Department of Emergency Medicine, The Children s Hospital at Westmead, Royal Alexandra Hospital for Children, New South Wales, Australia
Pediatr Emerg Care 18:86-90. 2002Isolated extradural hematoma (EDH) is becoming more frequently recognized in emergency departments (EDs) in children. We describe the natural history of children with isolated EDH presenting to a large Children's Hospital ED.
- Stereospecific inhibition of monoamine uptake transporters by meta-hydroxyephedrine isomersK F Foley
Department of Pharmacology, Brody School of Medicine, East Carolina University, Greenville, NC 27858, USA
J Neural Transm 109:1229-40. 2002Meta-hydroxyephedrine (HED) comprises four stereoisomers consisting of two enantiomeric pairs related to ephedrine and pseudoephedrine...
- Emergence of different macrophage populations in hepatic fibrosis following thioacetamide-induced acute hepatocyte injury in ratsM Ide
Department of Veterinary Pathology, Graduate School of Agriculture and Biological Sciences, Osaka Prefecture University, Gakuencho 1 1, Sakai, Osaka 599 8531, Japan
J Comp Pathol 128:41-51. 2003..In this rat model, the number of macrophages reacting with ED1 antibody (specific for exudate macrophages), ED2 (recognizing cell membrane antigens of resident macrophages, including Kupffer cells) and OX6 (recognizing MHC ..
- C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairmentIgor Medica
Division of Medical Genetics, Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Slovenia, Slajmerjeva 3 1000 Ljubljana, Slovenia
BMC Ear Nose Throat Disord 5:11. 2005..Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830)...
- The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV)Marc Schnichels
Institut fur Genetik, Abteilung Molekulargenetik, Universitat Bonn, Bonn 53117, Germany
Hum Mol Genet 16:1216-24. 2007..So far, several mutations in the Cx31 or Cx30.3 gene have been reported to cause EKV in humans...
- Local administration of interleukin-11 ameliorates intestinal radiation injury in ratsMarjan Boerma
Department of Pharmaceutical Sciences, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
Cancer Res 67:9501-6. 2007..02), reduced postradiation transforming growth factor-beta overexpression, and reduced numbers of ED2-positive cells. Postirradiation mucosal mast cell numbers were partially restored by rhIL-11...
- Heterocellular interaction enhances recruitment of alpha and beta-catenins and ZO-2 into functional gap-junction complexes and induces gap junction-dependant differentiation of mammary epithelial cellsRabih S Talhouk
Department of Biology, Faculty of Arts and Sciences, American University of Beirut, Beirut, Lebanon
Exp Cell Res 314:3275-91. 2008..alpha-catenin, beta-catenin and ZO-2) with Cx32 and Cx43, in differentiation conditions, and additionally with Cx30 in heterocellular cultures...
- Endothelium-dependent vasodilation in myogenically active mouse skeletal muscle arterioles: role of EDH and K(+) channelsSimon J Potocnik
School of Medical Sciences, RMIT University, Victoria, Australia
Microcirculation 16:377-90; 1 p following 390. 2009..we hypothesized that myogenic tone impacts on dilation mediated by endothelium-derived hyperpolarization (EDH)...
- A Canine Model for Human X-Linked Ectodermal DysplasiaMargret Casal; Fiscal Year: 2007..to establish a colony of dogs with clinical, pathologic, and genetic features of X-linked ectodermal dysplasia (HED) characterized by hypoplasia of hair and sweat glands, and missing and malformed teeth...
- OCULAR DENDRITIC CELLS: ROLE IN PATHOGENESIS OF UVEITISWilliam Bowers; Fiscal Year: 2001..And finally, two mutually exclusive populations of macrophages in the uveal tract, one ED1+ and the other ED2+, will be purified from normal and uveitic eyes for determination of the three functional activities listed above ..
- Biophysics of CNS ConnexinsVYTAUTAS VERSELIS; Fiscal Year: 2006..and combined genetic and morphological studies have established that neurons express Cx36, astrocytes Cx43 and Cx30 and oligodendrocytes Cx32, Cx45 and Cx47. A new GJ gene, Cx30.2 also appears to be expressed in neurons...
- 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)...
- PROPERTIES OF CONNEXIN CHANNELS THAT CAUSE DEAFNESSAndrew Harris; Fiscal Year: 2006..In the inner ear almost all the channels that contain Cx26 also contain Cx30, so it is likely that the key difference in permeability is that between Cx26/Cx30 heteromeric channels that ..
- Internalization of gap junctions as a regulatory mechanism of direct GJICMatthias M Falk; Fiscal Year: 2013..Human mutations in several Cxs (including Cx26, Cx30, Cx30...
- Xi Lin; Fiscal Year: 2015DESCRIPTION (provided by applicant): Mutations in connexin26 (Cx26) and Cx30 are the most common causes of hereditary deafness in humans...
- NIH Director's Pioneer AwardJunying Yuan; Fiscal Year: 2009..No Abstract provided ..
- Coronary Artery Regulation by Small Conduction Ca2+-activated K+ ChannelsMARK STEPHEN TAYLOR; Fiscal Year: 2011..upregulation of endothelial SK3 channel expression amplifies this endothelium-derived hyperpolarization (EDH). To fully address this hypothesis, we have formulated two specific aims...
- STEVEN SIMON SCHERER; Fiscal Year: 2016..SR- B), examine the ultrastructure of O: O junctions, and examine the expression of glial connexins (Cx30, Cx32, Cx43, Cx47) in two tracts - the optic nerve and the ventral funiculus of the cervical spinal cord. 3...
- Mutant cochlear connexins associated with deafnessGuillermo Altenberg; Fiscal Year: 2006..cells of the normal cochlea gap-junctional channels are heteromeric assemblies formed by the connexins Cx26 and Cx30. Infant deafness due to mutations of Cx26 is very common and our long-term objective is to elucidate at the ..
- Connexin Mutations in DeafnessThomas White; Fiscal Year: 2003..Mutations in two additional connexin genes, Cx30 (GJB6) and Cx3l (GJ63), also produce hearing loss in humans...
- Maiken Nedergaard; Fiscal Year: 2016..Aim 3 proposes that induced knock-out of either astrocytic AQP4 water channels or gap junctions (Cx43/Cx30) will slow parenchymal convective fluid flow and globally suppress tracer clearance...
- ELLEN SHIELDS WILCH; Fiscal Year: 2014..a 131-kb deletion with a proximal breakpoint well away from the transcriptional start sites of both GJB2 and GJB6;this deletion segregates with reduced or lost expression of both GJB2 and GJB6 mRNA...
- Eda/Edar Regulation of Embryonic SMG DevelopmentTina Jaskoll; Fiscal Year: 2007Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), the most common of the approximately 150 described ectodermal dysplasias, is a disorder characterized by abnormal development of hair, teeth, sweat glands and salivary glands...
- RODICA BUSUI POP-BUSUI; Fiscal Year: 2014..activation will be determined by positron emission tomography (PET) with [11C]meta-hydroxyephedrine ([11C]HED), heart rate variability, and 24-hour blood pressure monitoring in patients with T1DM (5-10 years'diabetes ..
- 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...
- Developmental Programming by Mismatch of Pre-and Postnatal NurtitionMark J Nijland; Fiscal Year: 2011..A second R24 to develop cohorts of OFF of mothers fed a high energy diet (HED) producing dietary induced maternal obesity (MO) in P and L (MO/MO, MO R24) began February 2010...
- Regulation of renal Na handling in the collecting duct by local purinergic toneJames D Stockand; Fiscal Year: 2013..It is striking that mice engineered to lack purinergic P2Y2 receptors or connexin 30 hemi-channels, which likely are responsible, in part, for ATP release in the distal nephron, have hypertension ..
- Control of Cerebral Blood Flow by KCa2 and KCa3Robert M Bryan; Fiscal Year: 2013..has been called endothelium-derived hyperpolarizing factor (EDHF) or endothelium- dependent hyperpolarization (EDH).This mechanism, which does not involve nitric oxide (NO) or cyclooxygenase metabolites (i.e...
- Maiken Nedergaard; Fiscal Year: 2016..astrocytic ATP in response to SCI: ATP release is attenuated in mice lacking astrocytic connexin hemichannels (Cx43/Cx30 KO), but potentiated in mice with an increased number of astrocytic hemichannels (Cx43 G138R mutation)...
- Peter W Nathanielsz; Fiscal Year: 2015..A second R24 to develop cohorts of OFF of mothers fed a high energy diet (HED) producing dietary induced maternal obesity (MO) in P and L (MO/MO, MO R24) began February 2010...
- Nanoparticles and Nanocapsules for Glioma TargetingBakhtiar Yamini; Fiscal Year: 2013..While the first 3 Aims are being completed at UCH, at LNK studies will concurrently be conducted to improve the EDH manufacturing technique specifically to optimize production of NPs that have characteristics necessary for CED (i.e...
- NIKHIL VILAS MUNSHI; Fiscal Year: 2014..Recent work in the Willecke and Olson laboratories has established that the connexin 30.2 (Cx30.2) gene is a valuable marker for the developing atrioventricular and sinoatrial nodes...
- BASICS-ED: A Momentary Intervention for Concurrent Smoking and Heavy DrinkingMary E Larimer; Fiscal Year: 2010DESCRIPTION (provided by applicant): Heavy episodic drinking (HED) among college students is a persistent public health problem with severe consequences, including development of substance-use disorders, psychosocial problems, health ..
- Genetic testing/hearing impairment in African AmericansNATHANIEL ROBIN; Fiscal Year: 2004..complete the survey will then be offered free research-based genetic testing for several HI-related genes, GJB2, GJB6, and GJAI. Dr. Richard Smith at the University of Iowa will do the genetic testing...
- HEART IMAGING AGENTS--STRUCTURAL MECHANISTICS STUDYDavid Raffel; Fiscal Year: 2001..sympathetic nerve markers, including radio-iodinated meta- iodobenzylguanidine (MIBG), (11C]-meta-hydroxyephedrine (HED), [11C]epinephrine (EPI), and [11C]phenylephrine (PHEN)...
- HEART IMAGING AGENTS--STRUCTURAL MECHANISTICS STUDYDavid Raffel; Fiscal Year: 2004..sympathetic nerve markers, including radio-iodinated meta- iodobenzylguanidine (MIBG), (11C]-meta-hydroxyephedrine (HED), [11C]epinephrine (EPI), and [11C]phenylephrine (PHEN)...
- Outcomes of Cx26 Testing in Deaf/Hard of Hearing AdultsChristina Palmer; Fiscal Year: 2009....
- 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. ..
- Connexin 26 Testing in InfantsChristina Palmer; Fiscal Year: 2005..A large cohort of infants and toddlers will be followed for up to three years to fully evaluate the audiologic phenotype of infants and data will be compared based on Cx26 genotype. ..
- Functional Analysis of Inner Ear Gap JunctionsHong Bo Zhao; Fiscal Year: 2008....
- Longitudinal Methodology and Alcohol UseKristina Jackson; Fiscal Year: 2007..abstract_text> ..
- EFFECTS OF CHANGING SEDENTARY BEHAVIOR IN OBESE CHILDRENLeonard Epstein; Fiscal Year: 2008..Developing a better understanding of why obese youth increase physical activity or decrease energy intake when sedentary behaviors are reduced is important for the treatment of pediatric obesity. [unreadable] [unreadable] [unreadable]..
- Underage Alcohol Use: Sequence and Progression of Early Drinking MilestonesKristina Jackson; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Habituation to food in childrenLeonard Epstein; Fiscal Year: 2009..These studies are designed to understand how individual differences in habituation may be an important factor that differentiates overweight and non-overweight youth. ..
- Taurine and Painful Diabetic NeuropathyMartin Stevens; Fiscal Year: 2007..These studies will test a novel mechanistically based therapeutic approach to a common disabling and often-refractory complication of diabetes. ..
- Food reinforcement-genotype interactions and eatingLeonard H Epstein; Fiscal Year: 2010..The findings are relevant to a greater understanding of behavioral and genetic factors related to obesity, as well as providing ideas that may be relevant for treatment interventions for those high in food reinforcement. ..
- GENETIC STUDIES OF NONSYNDROMIC DEAFNESSWalter Nance; Fiscal Year: 2001..In addition, blood spots from all available students at the School for the Deaf in Ulaanbaatar will be screened for the mitochondrial mutation that is associated with sensitivity to streptomycin. ..
- Modifying the home T.V. watching environmentLeonard Epstein; Fiscal Year: 2005..abstract_text> ..
- CYTOSOLIC REGULATION OF INNER EAR ION TRANSPORTA PHILINE WANGEMANN; Fiscal Year: 2007..first, middle) The name of the principal investigator/program director must be provided at the top of each printed page and each continuation page RESEARCH GRANT TABLE OF CONTENTS Page Numbers Face Page 1 Description, ..
- DYSREGULATION OF THE TAURINE TRANSPORTER IN DIABETESMartin Stevens; Fiscal Year: 2002..As an alternative, if in aim 1 little correlation between hTT mRNA abundance and hTT activity is found, then glucose mediated post-translational modifications will be examined. ..
- CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROMEGabriele Richard; Fiscal Year: 2002....
- A BEHAVIORAL ECONOMIC APPROACH TO CHILDHOOD OBESITYLeonard Epstein; Fiscal Year: 2005..This study will yield important information on new ways to treat pediatric obesity, minimizing dietary restriction and maximizing children learning healthier eating habits. ..
- CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATIONGabriele Richard; Fiscal Year: 2004..The development of antibodies against human Cx31 and rat Cx30.3 will facilitate immunohistochemical studies to evaluate the spatial and differential expression of all epidermal ..
- CREATION OF A DNA REPOSITORY TO IDENTIFY DEAFNESS GENESWalter Nance; Fiscal Year: 2004..abstract_text> ..
- ENVIRONMENTAL PREVENTION OF COLLEGE ALCOHOL PROBLEMSRobert Voas; Fiscal Year: 2003..abstract_text> ..
- LIFE COURSE ANTISOCIAL BEHAVIOR IN MALESDEBORAH CAPALDI; Fiscal Year: 2007..g., antisocial behavior in childhood), and similar contextual, social relationships, and behavioral factors in adulthood can explain changes in the course of behaviors across the early adult period. [unreadable] [unreadable]..
- Lowering the drinking age: The New Zealand exampleRobert Voas; Fiscal Year: 2005..abstract_text> ..
- ENHANCING ALCOHOL INTERLOCK EFFECTS ON 1ST DUI OFFENDERSRobert Voas; Fiscal Year: 2004..This research builds on experience gained in a 5-year RO1-funded program in Alberta, Canada. ..
- Connexins in Neuronal and Glial Gap Junctions in the Central Nervous SystemJOHN RASH; Fiscal Year: 2007..abstract_text> ..
- Drivers with Alcohol Use Disorders: At high risk for crashes?Robert B Voas; Fiscal Year: 2010..It will determine the prevalence of drivers with alcohol use disorders in traffic crashes and provide information to policymakers concerned with treatment and prevention programs. ..
- Connexins and Heart FunctionFeliksas Bukauskas; Fiscal Year: 2010..2 hemichannels are functional in cardiomyocytes and whether they contribute to slow propagation of excitation in the AV node and protection of ventricles from over excitation during atrial tachyarrhythmia. ..
- Six Programs for the Future of Alcohol SafetyRobert Voas; Fiscal Year: 2007..Voas to become involved in a broader range of programs than if he otherwise were limited by taking on the full management of individual R01 projects. For this effort we are requesting 5 years of support for 75% of Dr. Voas' time. ..
- Alcohol and Women's Responses to AggressionMaria Testa; Fiscal Year: 2004..The role of several potential covariates: liking for man, assertiveness, alcohol expectancies, and previous aggression, also will be considered. ..
- 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. ..
- Predictors of Children's Serving Sizes & Mealtime IntakeTheresa Nicklas; Fiscal Year: 2007..Understanding what influences the portion sizes of energy dense foods and FV will provide insight on intervention strategies for decreasing excessive intake of energy dense foods and increasing FV intake early in childhood. ..
- Telephone Counseling to Support Colon Cancer ScreeningRoger Luckmann; Fiscal Year: 2005..Evaluation includes assessment of system performance, provider/patient satisfaction, and screening outcomes through surveys, interviews, and process and outcome data collection and analysis. ..
- Getting a Head Start on Healthier Eating HabitsTheresa Nicklas; Fiscal Year: 2006..g., role modeling, encouragement, repeated exposure) that would be used to reinforce the impact of the FJV commercials on children's FJV preferences and consumption in an ensuing R01 grant. ..
- Preventing Alcohol-Related STD/HIV and AssaultMaria Testa; Fiscal Year: 2007....
- Gap Junctions and Connexins in Developing CNSJOHN RASH; Fiscal Year: 2005....
- Food Preferences of Ethnic Minority PreschoolersTheresa Nicklas; Fiscal Year: 2003....
- Campuses selling alcohol--Profit of Problem?Robert Voas; Fiscal Year: 2001....
- Gap Junction Channels Formation and GatingFeliksas Bukauskas; Fiscal Year: 2007..Abnormalities in GJ channels play a key role in generating cardiac arrhythmias, uterine malfunction, epileptic seizures and malignant cell growth. ..
- INTERGENERATIONAL TRANSMISSION OF RISKDEBORAH CAPALDI; Fiscal Year: 2002..Using this design, we will be able to examine the intergenerational transmission of parenting styles, as well as direct child effects and interactions between parenting and child effects. ..
- HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSISJonathan Zonana; Fiscal Year: 2002..We will also identify the genes associated with the autosomal recessive forms of HED in humans and mice...
- RISK FOR DYSFUNCTIONAL RELATIONSHIPS FOR YOUNG ADULTSDEBORAH CAPALDI; Fiscal Year: 2002....
- EVALUATION OF EFFORTS TO REDUCE BORDER BINGE DRINKINGRobert Voas; Fiscal Year: 2002..El Paso/Juarez, a border town with a similar border-binge drinking problem will, serve as a comparison site. ..
- ALCOHOL, HIV RISK BEHAVIORS AND VICTIMIZATIONMaria Testa; Fiscal Year: 2003..These findings will supplement the findings of the panel study with information on the proximal effects of alcohol consumption on perceptions and behaviors relevant to victimization. ..
- BIOENERGETICS OF EXERCISE-INDUCED MENSTRUAL DISTURBANCESNancy Williams; Fiscal Year: 2003..The results will also expand our understanding of the mechanism of the modulation of reproductive function by energy availability. ..
- How do Cx32 and Cx47 mutants cause CNS demyelination?JENNIFER ORTHMAN; Fiscal Year: 2007..This work should elucidate the molecular composition of gap junction channels that couple astrocytes and oligodendrocytes. [unreadable] [unreadable]..
- Effect of repetition in aged rats with WMSDMary Barbe; Fiscal Year: 2007..abstract_text> ..
- Heritability of Transitions in Women's Alcohol Use/DependenceCarolyn Sartor; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Dominant Connexin Mutations and Hearing LossSabrina Yum; Fiscal Year: 2008Three genes (GJB2, GJB3, GJB6) encode for gap junction proteins (connexin 26 (Cx26), (Cx30) and (Cx31) respectively), are found to cause dominant and/or recessive hearing loss. How these mutations cause hearing loss remains unknown...
- Campuses selling alcohol--Profit of Problem?Robert Voas; Fiscal Year: 2005....
- The CIA (Children in Action) ProgramTheresa Nicklas; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Primers for synthesizing full length cDNA clones and their usePatent Number: EP1396543-A2; Date:2004-03-10