Genomes and Genes
Gene Symbol: GJB1
Description: gap junction protein beta 1
Alias: CMTX, CMTX1, CX32, gap junction beta-1 protein, GAP junction 28 kDa liver protein, connexin-32, gap junction protein, beta 1, 32kDa
Publications385 found, 100 shown here
- Analysis of a Charcot-Marie-Tooth disease mutation reveals an essential internal ribosome entry site element in the connexin-32 geneA Hudder
Department of Biochemistry and Molecular Biology, University of Miami School of Medicine, Miami, Florida 33101, USA
J Biol Chem 275:34586-91. 2000..5'-UTR) of the nerve-specific connexin-32 mRNA, previously found in a family with Charcot-Marie-Tooth disease (CMTX), was analyzed for its effect on the expression of a reporter gene (luciferase) in transgenic mice and in ..
- Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 geneM Panas
Neurogenetics Unit, Department of Neurology, University of Athens, Greece
Neurology 57:1906-8. 2001..Both patients bear the C164T mutation of the connexin 32 gene but no mutations of the genes responsible for hyper- or hypokalemic periodic paralysis...
- Connexins induce and maintain tight junctions in epithelial cellsTakashi Kojima
Department of Pathology, Sapporo Medical University School of Medicine, Sapporo, Japan
J Membr Biol 217:13-9. 2007..Endogenous Cx32 expression and mediated intercellular communication are associated with the expression of tight junction proteins ..
- Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseBirgit Uhlenberg
Department of Neuropediatrics, Charite, University Medical School of Berlin, Berlin, Germany
Am J Hum Genet 75:251-60. 2004..In this study, we demonstrate that GJA12 plays a key role in central myelination and is involved in peripheral myelination in humans...
- Connexin mutations in X-linked Charcot-Marie-Tooth diseaseJ Bergoffen
Department of Neurology, University of Pennsylvania Medical School, Children s Hospital of Philadelphia 19104
Science 262:2039-42. 1993X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1...
- Calmodulin directly gates gap junction channelsC Peracchia
Department of Pharmacology and Physiology, University of Rochester, School of Medicine and Dentistry, Rochester, New York 14642 8711, USA
J Biol Chem 275:26220-4. 2000..the C-terminal pair dramatically increases the chemical gating sensitivity of gap junction channels composed of connexin 32 and decreases their sensitivity to transjunctional voltage...
- Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth diseaseO Dubourg
INSERM U289, Hopital de la Salpetriere, Paris, France
Brain 124:1958-67. 2001..X-linked dominant Charcot-Marie-Tooth (CMTX) disease is a motor and sensory neuropathy caused by mutations in the connexin 32 (CX32) gene...
- Connexin family members target to lipid raft domains and interact with caveolin-1Anne Lane Schubert
Department of Molecular Pharmacology and Albert Einstein Cancer Center and Department of Neuroscience, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA
Biochemistry 41:5754-64. 2002..We also show that other connexins (Cx32, Cx36, and Cx46) are targeted to lipid rafts, while Cx26 and Cx50 are specifically excluded from these membrane ..
- Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutationC Oliver Hanemann
Department of Neurology, University of Ulm, Ulm, Germany
Arch Neurol 60:605-9. 2003X-linked hereditary demyelinating neuropathies (Charcot-Marie-Tooth Disease [CMTX]) caused by mutations in the connexin 32 (Cx32) gene account for approximately 10% to 20% of all hereditary demyelinating neuropathies...
- Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson
Department of Neurology, University of Iowa, Iowa City, IA, USA
Ann Neurol 52:429-34. 2002X-linked Charcot-Marie-Tooth disease (CMTX) is a hereditary demyelinating neuropathy caused by mutations in the connexin 32 (Cx32) gene...
- Heterocellular gap junctional communication between alveolar epithelial cellsV Abraham
Department of Physiology, Institute for Environmental Medicine, University of Pennsylvania School of Medicine, 3620 Hamilton Walk, Philadelphia, PA 19104, USA
Am J Physiol Lung Cell Mol Physiol 280:L1085-93. 2001..In response to bleomycin-induced lung injury, Cx46 was upregulated by alveolar epithelial cells, whereas Cx32 and Cx43 expression were largely unchanged...
- Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth diseaseC K Abrams
Albert Einstein College of Medicine, Bronx, NY 10461, USA
Brain Res Brain Res Rev 32:203-14. 2000..Individuals carrying mutations in the gene encoding connexin 32 (Cx32), a gap junction protein expressed in the paranodal loops and Schmidt-Lantermann incisures of myelinating ..
- Gap junctional intercellular communication of bovine granulosa and thecal cells from antral follicles: effects of luteinizing hormone and follicle-stimulating hormoneMary Lynn Johnson
Endocrine 18:261-70. 2002..Additionally, Cx43, Cx32, and Cx26 were detected in cultured cells by immunocytochemistry and Cx43 by Western immunoblot analysis...
- 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. 2004..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-oligodendrocyte junctions...
- 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..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...
- 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. 2008Oligodendrocytes 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...
- Nerve injury and inflammatory cytokines modulate gap junctions in the peripheral nervous systemK J Chandross
National Institutes of Health, National Institute of Neurological Disorders and Stroke, Laboratory of Developmental Neurogenetics, Bethesda, Maryland 20892 4160, USA
Glia 24:21-31. 1998In the peripheral nervous system (PNS), myelinating Schwann cells express the gap junction protein connexin32 (Cx32) and lower levels of connexin43 (Cx43)...
- Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeletonGian Maria Fabrizi
Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy
Brain 130:394-403. 2007..mutations in the genes for peripheral myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22) and connexin 32 (GJB1); the motor nerve conduction velocity (MNCV) at the median nerve was below 38 m/s in 76 cases and above ..
- Combinatorial expression patterns of the connexins 26, 32, and 43 during development, homeostasis, and regeneration of rat teethK Fried
Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
Int J Dev Biol 40:985-95. 1996..Expression of connexin 32 was predominant in epithelial cells, whereas connexin 43 was more widely distributed and found in both ..
- Perineuronal satellite cells in mouse spinal ganglia express the gap junction protein connexin43 throughout life with decline in old agePatrizia Procacci
Institute of Histology, Embryology and Neurocytology, University of Milan, Via Mangiagalli 14, Milan, Italy
Brain Res Bull 75:562-9. 2008..satellite cells of mouse spinal ganglia express the connexins that are mainly present in neuroglial cells (Cx32 and Cx43). In young (3 months) mice, PCR showed the presence of both Cx32 and Cx43 transcripts...
- [The genetics of type 1 Charcot-Marie-Tooth disease, the hereditary focal neuropathies and the hereditary distal motor neuropathies]T Sevilla
, Hospital Universitario La Fe, Valencia,
Rev Neurol 30:71-9. 2000..locus CMT-1A); the gene for myelin 0 protein situated on chromosome 1q23 (locus CMT-1B); the gene for conexine 32 (Cx32), found on chromosome Xq13 (locus CMT-X) and the gene EGR2 found on chromosome 10q21.1-q22.1...
- Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1Chikahiko Numakura
Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990 9585, Japan
J Neurol Sci 210:61-4. 2003..a small number of patients have mutations of peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32) and early growth response 2 (EGR2) genes...
- Gap junction proteins connexin32 and connexin43 partially acquire growth-suppressive function in HeLa cells by deletion of their C-terminal tailsY Omori
Unit of Multistage Carcinogenesis, International Agency for Research on Cancer, 150 cours Albert Thomas, 69372 Lyon Cedex 08, France
Carcinogenesis 20:1913-8. 1999..proteins is the length of the C-terminal cytoplasmic tail, Cx26 having almost no tail, while Cx43 and connexin32 (Cx32) have long and intermediate ones, respectively...
- Expression of gap junction proteins connexin 26 and 43 is modulated during differentiation of keratinocytes in newborn mouse epidermisY Kamibayashi
Department of Dermatology, Sapporo Medical University School of Medicine, Japan
J Invest Dermatol 101:773-8. 1993We examined the expression of the gap junction proteins connexin 26 (Cx26), 32 (Cx32), and 43 (Cx43) in keratinocytes of newborn mouse epidermis to elucidate which connexins are expressed in keratinocytes in intact skin of newborn mice, ..
- The gap junction protein connexin32 interacts with the Src homology 3/hook domain of discs large homolog 1Heather S Duffy
Department of Pharmacology, Columbia University, New York, New York 10032, USA
J Biol Chem 282:9789-96. 2007..Here we describe studies indicating that Cx32 interacts with a PDZ-containing scaffolding protein, Dlgh1 (Discs Large homolog 1)...
- Connexin29 and connexin32 at oligodendrocyte and astrocyte gap junctions and in myelin of the mouse central nervous systemJames I Nagy
Department of Physiology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba R3E 3J7, Canada
J Comp Neurol 464:356-70. 2003The cellular localization, relation to other glial connexins (Cx30, Cx32, and Cx43), and developmental expression of Cx29 were investigated in the mouse central nervous system (CNS) with an anti-Cx29 antibody...
- High incidence of spontaneous and chemically induced liver tumors in mice deficient for connexin32A Temme
Institut fur Genetik, Abt Molekulargenetik, Universitat Bonn, Römerstr 164, 53117 Bonn, Germany
Curr Biol 7:713-6. 1997..We have previously shown that transgenic mice that lack connexin32 (Cx32), the major gap junction protein expressed in hepatocytes, express lower levels of a second hepatic gap junction ..
- Role of connexin (gap junction) genes in cell growth control and carcinogenesisH Yamasaki
Unit of Multistage Carcinogenesis, International Agency for Research on Cancer, Lyon, France
C R Acad Sci III 322:151-9. 1999..We have produced various dominant-negative mutants of Cx26, Cx32 and Cx43 and showed that some of them prevent the growth control exerted by the corresponding wild-type genes...
- Expression of gap junctional connexins 26, 32 and 43 in bovine placentomes during pregnancyC D Pfarrer
Department of Veterinary Anatomy, Histology and Embryology, Justus Liebig University Giessen, Frankfurter Strasse 98, D 35392 Giessen, Germany
Placenta 27:79-86. 2006..Therefore the objective of the present study was to investigate the expression of Cx26, Cx32, and Cx43 in placental tissues during bovine pregnancy, to determine if Cx expression patterns correlate with the ..
- Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexinsM M Toloue
Department of Biochemistry, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
Cell Commun Adhes 15:95-105. 2008..within the transmembrane domains of two connexins, one from the alpha-class (Cx50) and one from the beta-class (Cx32), where amino acid substitution disrupts the function of gap junction channels...
- Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43Valerie Lagree
Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
J Cell Sci 116:3189-201. 2003..Replacement of each of these residues in Cx43 (an alpha-type connexin) with the corresponding residues of Cx32 (a beta-type connexin) resulted in the assembly of all variants into gap junctions; however, only the P4 variant ..
- Loss of connexin 26 in mammary epithelium during early but not during late pregnancy results in unscheduled apoptosis and impaired developmentCeline Bry
Laboratory of Genetics and Physiology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Dev Biol 267:418-29. 2004..In mammary tissue, Cx26 and Cx32 are present in the secretory epithelium and Cx43 is localized in the myoepithelium...
- Both early and late stages of hepatocarcinogenesis are enhanced in Cx32 dominant negative mutant transgenic rats with disrupted gap junctional intercellular communicationNaomi Hokaiwado
Department of Experimental Pathology and Tumor Biology, Nagoya City University Graduate School of Medical Sciences, Kawasumi, Mizuho cho, Mizuho ku, Nagoya, Aichi, Japan
J Membr Biol 218:101-6. 2007..Several connexins are reported to be tumor suppressors, and we have established transgenic (Tg) rats with a connexin 32 (Cx32) dominant negative mutant showing high sensitivity to early-stage diethylnitrosamine (DEN)-induced liver ..
- A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth diseaseHideya Sakaguchi
Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1 1 1 Honjo, Kumamoto, 860 8556, Japan
J Neurol 258:284-90. 2011..Charcot-Marie-Tooth disease (CMT1X) is the second most common variant of CMT and is caused by mutations in the GJB1 gene encoding connexin 32...
- [Case report of transient splenium abnormality in Charcot-Marie-Tooth disease]Masayuki Sugie
Department of Neurology, Showa University School of Medicine
Rinsho Shinkeigaku 48:359-62. 2008..was the disruption of gap junction communications expressed between oligodendrocyte and astrocytes induced by connexin 32 (Cx32) mutations...
- Developmental expression and assembly of connexins into homomeric and heteromeric gap junction hemichannels in the mouse mammary glandD Locke
Breakthrough Breast Cancer, Institute of Cancer Research, London, United Kingdom
J Cell Physiol 183:228-37. 2000..Connexins, Cx26 and Cx32, were differentially expressed throughout pregnancy and lactation in alveolar cells...
- Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)T Stojkovic
Department of Neurology, University of Lille, France
Neurology 52:1010-4. 1999To report a family with X-linked Charcot-Marie-Tooth disease (CMTX) with proven connexin 32 (Cx32) mutation associated with deafness.
- Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth diseaseC K Abrams
Albert Einstein College of Medicine, 1300, Morris Park Avenue Bronx, NY 10463, USA
Brain Res 900:9-25. 2001..peripheral neuropathy arising in patients with mutations in the gene encoding the gap junction protein connexin 32 (Cx32)...
- [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease]Xiao hui Qiao
Department of Neurology, Peking University First Hospital, Beijing 100034, China
Zhonghua Yi Xue Za Zhi 89:3328-31. 2009..To analyze the relationship between phenotype and genotype and the role of immune cells in the pathogenesis of X-linked Charcot-Marie-Tooth disease (CMT1X)...
- A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth diseaseSinéad M Murphy
MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK
J Peripher Nerv Syst 16:65-70. 2011..cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene which codes for connexin 32 (CX32)...
- Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous systemF M Hisama
Neurogenetics Program, Department of Neurology, Yale University School of Medicine, LCI 1000, PO Box 208018, New Haven, CT 06520 8018, USA
Arch Neurol 58:1891-6. 2001..To investigate the clinical and molecular characteristics of an apparently X-linked dominant form of Charcot-Marie-Tooth (CMT) disease in a family with central nervous system involvement and additional features...
- Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1XK A Kleopa
Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Neurology 66:396-402. 2006To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X).
- GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth diseaseClaudia Gonzaga-Jauregui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Neurogenetics 11:465-70. 2010The X-linked form of Charcot-Marie-Tooth disease (CMTX) is the second most common form of this genetically heterogeneous inherited peripheral neuropathy. CMT1X is caused by mutations in the GJB1 gene...
- Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patientsShujuan Song
Peking University Center of Medical Genetics, Beijing, China
Genet Med 8:532-5. 2006..To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency...
- Liver tumor-promoting effect of beta-naphthoflavone, a strong CYP 1A1/2 inducer, and the relationship between CYP 1A1/2 induction and Cx32 decrease in its hepatocarcinogenesis in the ratT Shoda
Division of Pathology, National Institute of Health Sciences, Tokyo, Japan
Toxicol Pathol 28:540-7. 2000Interrelationships among induction of cytochrome P-450 (CYP) 1A1/2, decrease in connexin 32 (Cx32), and liver tumor-promoting activity by beta-naphthoflavone (BNF) in the promotion stage were examined in a 2-stage liver carcinogenesis ..
- Immunohistochemical demonstration of the gap junctional protein connexin 32 and proliferating cell nuclear antigen in glutathione S-transferase placental form-negative lesions of rat liver induced by diethylnitrosamine and clofibrateS Ito
Environmental Health Science Laboratory, Sumitomo Chemical Co, Ltd, Osaka, Japan
Toxicol Pathol 24:690-5. 1996The distributions of a gap junctional protein, connexin 32 (cx 32), and proliferating cell nuclear antigen (PCNA) were examined immunohistochemically in glutathione S-transferase placental form (GST-P)-negative foci, induced in rat liver ..
- Connexin43 gap junctions in normal, regenerating, and cultured mouse bone marrow and in human leukemias: their possible involvement in blood formationT Krenacs
Department of Anatomy and Developmental Biology, University College London, United Kingdom
Am J Pathol 152:993-1004. 1998..Cx37 was found only in the arteriolar endothelium, but neither Cx32 nor -26 were expressed...
- Identification of connexin36 in gap junctions between neurons in rodent locus coeruleusJ E Rash
Department of Biomedical Sciences, Colorado State University, Campus Delivery 1617, Fort Collins, CO 80523, USA
Neuroscience 147:938-56. 2007..has been proposed that these neurons are linked by extraordinarily abundant gap junctions consisting of connexin32 (Cx32) and connexin26 (Cx26), and that those same connexins abundantly link neurons to astrocytes...
- Gap junction assembly: multiple connexin fluorophores identify complex trafficking pathwaysP E Martin
Wales Heart Research Institute and Department of Medical Biochemistry, University of Wales College of Medicine, Cardiff, UK
Cell Commun Adhes 8:243-8. 2001..Intracellular targeting of Cx32-CFP and 43-GFP to gap junctions was disrupted by brefeldin A treatment and resulted in a severe loss of gap ..
- Response of thyroid follicular cells to gamma irradiation compared to proton irradiation: II. The role of connexin 32L M Green
Radiobiology Program, Department of Radiation Medicine, Loma Linda University, California 92354, USA
Radiat Res 158:475-85. 2002The objective of this study was to determine whether connexin 32-type gap junctions contribute to the "contact effect" in follicular thyrocytes and whether the response is influenced by radiation quality...
- Localization of gap junctions and tracer coupling in retinal Müller cellsA K Ball
Department of Biomedical Sciences, McMaster University, Hamilton, Ontario, Canada
J Comp Neurol 393:48-57. 1998..proteins that make up the connexon channels in two tissues from which connexins have been isolated: liver (connexin 32; CX32) and heart (connexin 43; CX43)...
- [Relationship between Helicobacter pylori infection and expression of connexin (Cx) 32 and Cx43 genes in gastric cancer and gastric precancerous lesions]Can xia Xu
Department of Gastroenterology, Third Xiangya Hospital, Central South University, Changsha 410013, China
Zhonghua Yi Xue Za Zhi 88:1523-7. 2008To investigate the expression of connexin (Cx)32 and Cx43 genes in gastric cancer and precancerous lesion, and to investigate the relation between the changes of expression of Cx32 and Cx43 genes and Helicobacter pylori (Hp) infection.
- Effect of phenobarbital on hepatic gap junctional intercellular communication in ratsS Ito
Environmental Health Science Laboratory, Sumitomo Chemical Co Ltd, Osaka, Japan
Toxicol Pathol 26:253-9. 1998..The area and number of connexin 32 (Cx32) spots per hepatocyte in the central zone of liver lobules decreased from week 1 to week 6, but no change ..
- Synthesis and purification of hydrophobic peptides for use in biomimetic ion channelsS Y Kassim
Department of Chemistry and Biochemistry, University of Maryland, Baltimore County 21250, USA
J Chromatogr A 816:11-20. 1998..These peptides include the 24-residue M3 transmembrane domain of the rat connexin 32 protein, a peptide sequence that contains only seven amino acids with hydrophilic side-chains (71% hydrophobic)...
- Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulationsE Oviedo-Orta
Department of Medical Biochemistry and Wales Heart Research Institute, University of Wales College of Medicine, Cardiff, UK
Immunology 99:578-90. 2000..blood and tonsil lymphocytes, but Cx40 mRNA expression was confined to tonsil-derived T and B lymphocytes; Cx26, Cx32, Cx37 and Cx45 were not detected by reverse transcription-polymerase chain reaction (RT-PCR)...
- Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteinsJ K VanSlyke
Vollum Institute for Advanced Biomedical Research, Oregon Health Sciences University, Portland, Oregon 97201, USA
Mol Biol Cell 11:1933-46. 2000..protein connexin32 (Cx32) have been linked to the human peripheral neuropathy X-linked Charcot-Marie-Tooth disease (CMTX). How these various mutants are processed by the cell and the mechanism(s) by which they cause CMTX are unknown...
- A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in GermanyC Bergmann
Institut fur Humangenetik, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 30, D 52074 Aachen, Germany
Brain Res Mol Brain Res 88:183-5. 2001..The X-linked dominant form of CMT (CMTX) is associated with mutations in the connexin32 gene (Cx32)...
- Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutationsA Vital
Département de Neuropathologie, Universite Victor Segalen Bordeaux 2, France
J Peripher Nerv Syst 6:79-84. 2001There is still confusion as to whether X-linked Charcot-Marie-Tooth disease (CMTX) is primarily an axonal disorder or is primarily demyelinating...
- The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disordersV Pingault
Génétique Moléculaire et Physiopathologie INSERM U468, Hĵpital Henri Mondor, France
J Neurol 248:496-9. 2001..Charcot-Marie-Tooth disease without identified mutations in the genes encoding PNS myelin proteins (PMP22, P0), connexin 32 and the zinc-finger transcription factor, EGR2...
- Gap junctional communication and connexin expression in cultured olfactory ensheathing cellsS C Barnett
Department of Neurology, University of Glasgow, Glasgow, Scotland
J Neurosci Res 65:520-8. 2001..We examined the Cx mRNA profile of OECs, astrocytes, and Schwann cells using primers to Cx26, Cx32, Cx37, Cx43, Cx46, and Cx50...
- Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channelsP E Martin
Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
J Cell Sci 114:3845-55. 2001..Targeting of Cx32-CFP and 43-GFP to gap junctions and gap junctional communication was inhibited in cells treated with Brefeldin A, a ..
- Multimeric connexin interactions prior to the trans-Golgi networkJ Das Sarma
Institute for Environmental Medicine, Department of Physiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
J Cell Sci 114:4013-24. 2001..Cx43/beta-gal also specifically interacted with Cx46, but not Cx32, consistent with the ability of Cx43/beta-gal to simultaneously inhibit multiple connexins...
- Variation in toxin compositions of two harmful raphidophytes, Chattonella antiqua and Chattonella marina, at different salinitiesShahroz Mahean Haque
Laboratory of Aquatic Resource Science, Faculty of Fisheries, Kagoshima University, 4 50 20 Shimoarata, Kagoshima 890 0056, Japan
Environ Toxicol 17:113-8. 2002..Similarly, C. marina included CmTx-I, CmTx-II, CmTx-III, and CmTx-IV corresponding to PbTx-2, PbTx-9, PbTx-3, and oxidized PbTx-2...
- [A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing]Wei Luo
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P R China
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19:367-9. 2002To report a Chinese Charcot-Marie-Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation.
- Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerveXinbo Li
Department of Physiology, Faculty of Medicine, University of Manitoba, 730 William Avenue, Winnipeg, Manitoba, R3E 3J7 Canada
Eur J Neurosci 16:795-806. 2002..These were distinguished from connexin32 (Cx32), which also is expressed in peripheral nerve...
- Connexins and apoptotic transformationAudrone Kalvelyte
Laboratory of Developmental Biology, Institute of Biochemistry, 12 Mokslininku Str, LT 2600 Vilnius, Lithuania
Biochem Pharmacol 66:1661-72. 2003..EGFP was attached to the C-terminus of Cx32 and Cx43, Cx32-EGFP and Cx43-EGFP, respectively, and to the N-terminus of Cx32, EGFP-Cx32...
- CCN3 (NOV) interacts with connexin43 in C6 glioma cells: possible mechanism of connexin-mediated growth suppressionChristine T Fu
Department of Anatomy and Cell Biology, University of British Columbia, Vancouver V6T 1Z3, British Columbia, Canada
J Biol Chem 279:36943-50. 2004..Similar experiments revealed that CCN3 did not co-localize or associate with other connexins, including Cx40 or Cx32. Taken together, these data support an interaction of CCN3 with the C terminus of Cx43, which could play an ..
- Modulation of liver tumorigenesis in Connexin32-deficient mouseE Georg Luebeck
Fred Hutchinson Cancer Research Center, Public Health Sciences Division, 1100 Fairview Avenue North, Seattle, WA 98109 1024, USA
Mutat Res 570:33-47. 2005Connexin32 (Cx32) is the major gap junction forming protein in liver. Mice deficient in Cx32 demonstrate enhanced liver tumor formation, but are resistant to promotion of hepatocarcinogenesis by the model tumor promoter phenobarbital (PB)...
- Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null miceSteven S Scherer
Department of Neurology and Cell and Molecular Biology Graduate Group, The University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104 6077, USA
J Neurosci 25:1550-9. 2005Mutations in Gap Junction beta1 (GJB1), the gene encoding the gap junction protein connexin32 (Cx32), cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), an inherited demyelinating neuropathy...
- Glial and neuronal connexin expression patterns in the rat spinal cord during development and following injuryI Hui Lee
Department of Neuroscience, Karolinska Institute, 17177 Stockholm, Sweden
J Comp Neurol 489:1-10. 2005..the temporospatial expression patterns of gap junctional genes and proteins, connexin 43 (Cx43), Cx36, and Cx32, by in situ hybridization and immunohistochemistry in the rat neonatal, adult normal, and adult injured spinal cord...
- Connexin43-dependent mechanism modulates renin secretion and hypertensionJacques Antoine Haefliger
Department of Internal Medicine, University Hospital, Lausanne, Switzerland
J Clin Invest 116:405-13. 2006..the function of Cx43 during hypertension, we studied the mouse line Cx43KI32 (KI32), in which the coding region of Cx32 replaces that of Cx43...
- Intermediate forms of Charcot-Marie-Tooth neuropathy: a reviewGarth Nicholson
University of Sydney, The Molecular Medicine and ANZAC Research Institute, Northcott Neuroscience Laboratory, Concord Hospital, NSW 2139, Australia
Neuromolecular Med 8:123-30. 2006..group is caused by a limited number of distinct gene mutations in dynamin2 (DNM2), gap-junction protein 1 (GJB1), neurofilament light polypeptide (NF-L) genes, and a rare mutation and as yet unknown genes on chromosome 1 and 10 ..
- Analysis of connexin expression during mouse Schwann cell development identifies connexin29 as a novel marker for the transition of neural crest to precursor cellsJing Li
Department of Neuroanatomy and Molecular Brain Research, Ruhr University Bochum, D 44801 Bochum, Germany
Glia 55:93-103. 2007..In mature myelin-forming Schwann cells, expression of multiple connexins, i.e. connexin (Cx) 43, Cx29, Cx32, and Cx46 (after nerve injury) has been detected...
- A fully atomistic model of the Cx32 connexonSergio Pantano
Institut Pasteur of Montevideo, Montevideo, Uruguay
PLoS ONE 3:e2614. 2008..We then produced a fully atomistic model of a homotypic Cx32 connexon starting from a published model of the C alpha carbons arrangement for the connexin transmembrane helices, ..
- Connexin channels and phospholipids: association and modulationDarren Locke
Department of Pharmacology and Physiology, New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, New Jersey 07103, USA
BMC Biol 7:52. 2009..The importance of interactions between connexin channels and phospholipids is poorly understood...
- The growth pattern of transplanted normal and nodular hepatocytesSilvia Doratiotto
Department of Biomedical Sciences and Biotechnology, Section of Experimental Pathology, University of Cagliari, via Porcell, 4, 09125, Cagliari, Italy
Histochem Cell Biol 135:581-91. 2011..and distribution of proteins involved in cell polarity, cell communication, and cell adhesion, including connexin 32, E-cadherin, and matrix metalloproteinase-2, were altered in clusters of nodular hepatocytes...
- Connexin32 can restore hearing in connexin26 deficient miceJoachim Degen
Institute of Genetics, University of Bonn, 53117 Bonn, Germany
Eur J Cell Biol 90:817-24. 2011..Here we have studied the functional equivalence of Cx26 and connexin32 (Cx32) isoforms in the cochlea...
- Muscarinic receptor subtypes as potential targets to modulate oligodendrocyte progenitor survival, proliferation, and differentiationFederica De Angelis
Department of Biology and Biotechnologies Charles Darwin, Center of Neurobiology Research Daniel Bovet, La Sapienza University of Rome, Rome, Italy
Dev Neurobiol 72:713-28. 2012..Muscarine stimulation increased CX32 and myelin basic protein expression, left unaffected that of myelin proteolipid protein (PLP), and decreased member ..
- Connexin 36 is expressed in beta and connexins 26 and 32 in acinar cells at the end of the secondary transition of mouse pancreatic development and increase during fetal and perinatal lifeElia Martha Pérez-Armendariz
Departamento de Medicina Experimental, Facultad de Medicina, Universidad Nacional Autonoma de Mexico, Mexico, DF, Mexico
Anat Rec (Hoboken) 295:980-90. 2012To identify when during fetal development connexins (Cxs) 26 (Cx26) 32 (Cx32), and 36 (Cx36) begin to be expressed, as well as to characterize their spatial distribution, real time polymerase chain reaction and immunolabeling studies were ..
- Structural studies of N-terminal mutants of connexin 32 using (1)H NMR spectroscopyB D Kalmatsky
Department of Chemistry, Brooklyn College of the City University of New York, Brooklyn, NY 11210, United States
Arch Biochem Biophys 526:1-8. 2012..Presently, we solve the structure of nonfunctional Connexin 32 mutants W3D and Y7D which do not appear to be membrane inserted...
- Paracrine signaling through plasma membrane hemichannelsNan Wang
Department of Basic Medical Sciences, Ghent University, Ghent, Belgium
Biochim Biophys Acta 1828:35-50. 2013..to connexins, hemichannels can also be formed by pannexin (Panx) proteins and current evidence suggests that Cx26, Cx32, Cx36, Cx43 and Panx1, form hemichannels that allow the diffusive release of paracrine messengers...
- Downregulation of connexin 32 attenuates hypoxia/reoxygenation injury in liver cellsRen Wang
Department of Anaesthesiology, The Third Affiliated Hospital, Sun Yat Sen University, Guangzhou, People s Republic of China
J Biochem Mol Toxicol 29:189-97. 2015..BRL-3A rat liver cells, endogenously expressing connexins Cx32 and Cx43, were used to model the process of hepatic IR injury...
- Degradation of gap junction connexins is regulated by the interaction with Cx43-interacting protein of 75 kDa (CIP75)Jennifer L Kopanic
Department of Biochemistry and Molecular Biology, University of Nebraska Medical Center, Omaha, NE 68137, U S A
Biochem J 466:571-85. 2015..In addition, we have also discovered that CIP75 interacts with ER-localized Cx32 in a process that is likely mediated by Cx32 ubiquitination...
- A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth diseaseFei Xiao
Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Neurology, 1 You Yi Road, Chongqing 400016, China
J Clin Neurosci 22:513-8. 2015Gap junction protein beta 1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth (CMTX) disease. We investigated a Chinese family with CMTX and identified a novel GJB1 point mutation...
- GJIC Enhances the phototoxicity of photofrin-mediated photodynamic treatment by the mechanisms related with ROS and Calcium pathwaysDengpan Wu
Department of Pharmacology, Pharmacy School of Xuzhou Medical College, 221004, Xuzhou, P R China
J Biophotonics 8:764-74. 2015..The presence of GJIC composed of Connexin 32 increased the PDT phototoxicity in transfected HeLa cells and in the xenograft tumors, and the enhanced ..
- Connexinopathies: a structural and functional glimpseIsaac E García
Centro Interdisciplinario de Neurociencia de Valparaíso, Instituto de Neurociencia, Facultad de Ciencias, Universidad de Valparaiso, Valparaiso, Chile
BMC Cell Biol 17:17. 2016..Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50)...
- Gap junctional proteins, connexin 26, 32, and 43 in sheep ovaries throughout the estrous cycleA T Grazul-Bilska
Cell Biology Center, Biotechnology Institute, Department of Animal and Range Sciences, North Dakota State University, Fargo 58105, USA
Endocrine 8:269-79. 1998..b>Cx32 was detected in the blood vessels of ovarian stroma and in the CL, and Cx43 was detected in the CL...
- Differential expression of connexin26 and connexin32 in the pre-Bötzinger complex of neonatal and adult ratI C Solomon
Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, New York 11794 8661, USA
J Comp Neurol 440:12-9. 2001..We found that both connexin26 (Cx26) and connexin32 (Cx32) were expressed in pre-BötC neurons of neonatal and adult rats; however, the relative amounts and their ..
- Clinical and biophysical characterization of 19 GJB1 mutationsPei Chien Tsai
Department of NeurologyTaipei Veterans General HospitalTaipei11217Taiwan Department of NeurologyNational Yang Ming University School of MedicineTaipei11221Taiwan Brain Research CenterNational Yang Ming UniversityTaipei11221Taiwan
Ann Clin Transl Neurol 3:854-865. 2016Charcot-Marie-Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta-1 gene (GJB1), is the second most common form of Charcot-Marie-Tooth disease (CMT)...
- Connexin47 protein phosphorylation and stability in oligodendrocytes depend on expression of Connexin43 protein in astrocytesDennis May
Life and Medical Sciences Institute, Molecular Genetics, University of Bonn, D 53115 Bonn, Germany
J Neurosci 33:7985-96. 2013..We generated Connexin32 (Cx32)-deficient mice with additional deletion of astrocytic Cx43 to explore the role of both connexins in panglial ..
- Inhibition of gap junctions relieves the hepatotoxicity of TNF-αZ Y Chen
Department of Anesthesiology, Guangzhou Women and Children, Medical Center, Guangzhou, China
Genet Mol Res 14:11896-904. 2015..with a GJ inhibitor; 2) inoculation of cells at high and low densities; and 3) inhibition of the expression of connexin 32 (Cx32) by small inhibitory RNA transfection...
- Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysisLi Xi Li
Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, 200040, China
Oncotarget 7:27655-64. 2016..pathogenic variants in 11 patients, including 7 previously reported variants and 3 novel heterozygous variants (GJB1: p.Y157H; MFN2: p.G127S; YARS: p.V293M)...
- Molecular cloning and functional expression of mouse connexin40, a second gap junction gene preferentially expressed in lungH Hennemann
Abt Molekulargenetik, Universitat Bonn, Germany
J Cell Biol 117:1299-310. 1992..nucleotide sequence, mouse Cx40 is more closely related to mouse Cx43 (alpha subgroup of connexins) than to mouse Cx32 (beta subgroup)...
- Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridizationH J Schwarz
Institut fur Genetik, Abt Molekulargenetik, Universitat Bonn, Germany
Somat Cell Mol Genet 18:351-9. 1992..In addition, our results confirm the recent assignment of mouse connexin genes Cx26, Cx32, Cx37, Cx40, Cx43, and Cx46 to mouse chromosomes 14, X, 4, 3, 10, and 14, respectively, by analysis of ..
- Differential changes in expression of gap junction proteins connexin 26 and 32 during hepatocarcinogenesis in ratsH Sakamoto
Department of Pathology, Sapporo Medical College
Jpn J Cancer Res 83:1210-5. 1992We examined expressions of the gap junction proteins, connexin 26 (Cx26) and 32 (Cx32), in preneoplastic and neoplastic lesions during rat hepatocarcinogenesis...
- Connexin32-null mice develop demyelinating peripheral neuropathyS S Scherer
Department of Neurology, University of Pennsylvania Medical Center, Philidelphia 19104 6077, USA
Glia 24:8-20. 1998..Mutations in the gene encoding the gap junction protein connexin32 (Cx32) cause X-linked Charcot-Marie-Tooth disease (CMTX), a common form of inherited demyelinating peripheral neuropathy...
- Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth diseaseA Abel
Neurogenetics Branch, National Institute of Neurologic Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1250, USA
J Neuropathol Exp Neurol 58:702-10. 1999..an inherited demyelinating neuropathy caused by mutations in the gene encoding the gap junction protein connexin32 (Cx32)...
- Investigation of serum response to PMP22, connexin 32 and P(0) in inflammatory neuropathiesM S Kwa
Department of Neurology, Academic Medical Center, University of Amsterdam, Lab Neurozintuigen, K2 room 219, PO Box 22660, 1100 DD, Amsterdam, Netherlands
J Neuroimmunol 116:220-5. 2001..b>Connexin 32 (Cx32), myelin protein zero (MPZ, P(0)) and peripheral myelin protein 22 (PMP22) were produced in Chinese ..
- Connexin expression in nonneoplastic human prostate epithelial cellsFrancesca Saladino
Department of Experimental Oncology and Clinical Application, University Medical School, Palermo, Italy
Ann N Y Acad Sci 963:213-7. 2002Expression of gap-junction proteins connexins (Cx), specifically Cx43, Cx32, and Cx26, in both nontumorigenic (RWPE-1) and tumorigenic (RWPE-2) human prostate epithelial cells as well as in two cell clones (WPEI-7 and WPEI-10) originating ..
- Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entityG Lus
Department of Neurological Sciences, First Division of Clinical Neurology, Faculty of Medicine, Second University of Naples and Interuniversity Center for Research in Neuroscience, Naples, Italy
Neurology 61:988-90. 2003..Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded...
- Connexin36 distribution in putative CO2-chemosensitive brainstem regions in ratIrene C Solomon
Department of Physiology and Biophysics, State University of New York at Stony Brook, Basic Science Tower, Health Science Center, Level 6, Rm 140, Stony Brook, NY 11794 8661, USA
Respir Physiol Neurobiol 139:1-20. 2003Recent work from our laboratory has demonstrated that the gap junction proteins connexin26 (Cx26) and connexin32 (Cx32) are expressed in neurons in putative CO2-chemosensitive brainstem regions in both neonatal and adult rats...
- Role of Connexins in Beta-Cell Development and FunctionVINCENZINO CIRULLI; Fiscal Year: 2003..Thus, while Cx32 appears expressed in most pancreatic undifferentiated epithelial cells, Cx36 is mainly restricted to developing ..
- CONNEXIN32 MUTATIONS IN CHARCOT-MARIE-TOOTH-X DISEASELINDA MUSIL; Fiscal Year: 2004DESCRIPTION (From the Applicant's Abstract): The X-linked form of type I Charcot-Marie-Tooth disease (CMTX) is the second most common hereditary peripheral neuropathy in humans...
- NEURONAL DEVELOPMENT INTERACTION AND ORGANIZATIONMichael Bennett; Fiscal Year: 2000..Schwann cells express Cx32 when myelinating but change over to expressing Cx46 in culture...
- SiRNA therapeutics: Gap junction delivery in vitro and in vivoRichard T Mathias; Fiscal Year: 2013..Previously we determined that gap junctions composed of Cx43 transfer siRNA, whereas those composed of Cx32 or Cx26 will not. Hence channel permeability for siRNA depends on the connexin...
- Structure/Function Analysis of Low pl Connexin IsoformsELLIOT HERTZBERG; Fiscal Year: 2003..Mutations of Cx32, found in myelin, lead to a progressive peripheral neuropathy termed X-linked Charcot-Marie-Tooth disease...
- Internalization of gap junctions as a regulatory mechanism of direct GJICMatthias M Falk; Fiscal Year: 2013..Human mutations in several Cxs (including Cx26, Cx30, Cx30.3, Cx31, Cx32, Cx43, Cx46, and Cx50) are implicated in a number of diseases including neuropathies, deafness, cataracts, skin ..
- Function and Expression of Connexins in the pre-Botzinger ComplexJONATHAN KELTY; Fiscal Year: 2007..The findings a) that neurons within the rodent PBC express at least some Cx, possibly including Cx26, Cx32, and Cx36, and b) that putative gap junction blockers (uncouplers) affect the generation of bursting by the PBC ..
- Connexins in Ischemia-Induced Neuronal DeathMichael Bennett; Fiscal Year: 2007..Recent findings from this laboratory indicate that global ischemia triggers a selective upregulation of Cx36 (and Cx32) protein expression in GABAergic interneurons of the vulnerable CA1 at times prior to the onset of neuronal death, ..
- FUNCTION AND REGULATION OF INTERCELLULAR COMMUNICATIONDavid L Paul; Fiscal Year: 2010DESCRIPTION (provided by applicant): Previously, we showed that mutations in connexin32 (Cx32) cause a form of Charcot-Marie-Tooth disease, a demyelinating neuropathy of the peripheral nervous system (PNS)...
- Connexin 32 Mutations in X-Linked CMTCharles Abrams; Fiscal Year: 2009..CMTX) is an inherited peripheral neuropathy associated with mutations in the gap junction protein connexins 32 (Cx32)...
- Andrew L Harris; Fiscal Year: 2016..elucidate the molecular mechanisms of CL-CT control of channel function using Cx26 and its closely related isoform Cx32. Cx26 is the only connexin channel for which there is a high-resolution structure, making it the cornerstone for ..
- STEVEN SIMON SCHERER; Fiscal Year: 2016..oligodendrocytes? In the last grant cycle of this grant, we showed that O: A coupling in lost in mice lacking both Cx32 and Cx47...
- Liver Cell Membrane Protein-Expression and FunctionAllan W Wolkoff; Fiscal Year: 2012..motors and regulatory factors;(Project 2) identification and characterization of protein binding partners for connexin 32 that may regulate its trafficking to and from the plasma membrane;(Project 3) discovery that the association of ..
- TERRY L DOWD; Fiscal Year: 2015..channels and a sensitive mutational target underlying two common inherited diseases: X-linked Charcot-Marie-Tooth (Cx32) and nonsyndromic and syndromic deafness (Cx26)...
- Suraj J Patel; Fiscal Year: 2014..This grant focuses on discovery of inhibitors of connexin 32 (Cx32), a liver-specific gap junction protein that we recently demonstrated to be essential for propagating ..
- CONNEXINS AND CARCINOGENESISHiroshi Yamasaki; Fiscal Year: 1999..knock-out mice of specific connexin genes; we have already established transgenic mice carrying a mutated Cx32 gene, targeting the liver, and we now plan to target the skin...
- Biophysics of CNS ConnexinsVYTAUTAS VERSELIS; Fiscal Year: 2006..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...
- CELLULAR AND BIOPHYSICAL MECHANISMS OF CMTXCharles Abrams; Fiscal Year: 2003b>Connexin 32 (Cx32Y) is a gap junction protein found in the paranodal loops and Schmidt-Lantermann incisures of myelinating Schwann cells...
- GAP JUNCTIONS AND CELL INTERACTIONS IN PROSTATE CANCERParmender Mehta; Fiscal Year: 2002..to be produced during the progression of prostate cancer, on the assembly and function of gap junctions composed of Cx32 and Cx43...
- Basis of Voltage & Chemical Gating in Connexin ChannelsMICHAEL PULJUNG; Fiscal Year: 2002..Mutations in connexin genes are associated with diseases including X-linked Charcot-Marie-Tooth disease (CMTX), a peripheral neuropathy caused by defects in connexin32...
- STRUCTURE-FUNCTION OF CONNEXIN PORESAndrew Harris; Fiscal Year: 2009..In the present proposal, this analysis will be applied to Cx32 and Cx26, defects in which cause X-linked Charcot-Marie-Tooth disease neuropathy and sensorineural deafness, ..
- Characterization of a novel CNS Specific connexin, Cx29BRUCE ALTEVOGT; Fiscal Year: 2003..are responsible for the second most common inherited peripheral neuropathy, X-linked Charcot Marie Tooth disease (CMTX)...
- MOLECULAR STUDIES IN C/M/T DISEASE TYPE 4 B AND CKamel Ben Othmane; Fiscal Year: 2001..of autosomal dominant forms leading to the identification of several peripheral nerve proteins (PMP-22, PO, and Connexin 32)...
- Genotype Phenotype Correlation in CMTXMichael Shy; Fiscal Year: 2006..Specific Aim 2: To test the hypothesis that gain of function mutations in Cx32, identified by an abnormal subcellular localization of the protein, or abnormalities on gap junction by dye ..
- PINEAL GAP JUNCTION--CHARACTERIZATION AND REGULATIONJUAN SAEZ; Fiscal Year: 1992..techniques and Northern blot analysis we found that rat pineals express both connexins 43 and 26 but not connexin 32. [Connexin 26 is restricted to pinealocytes and connexin 43 is found only in the astrocytes]...
- Regulation of Cx43 by Src and Novel Interacting ProteinsAlan Lau; Fiscal Year: 2009..junction function by mutations in connexin genes causes several human diseases, including peripheral neuropathy (CMTX), deafness, cataract formation, skin diseases, and may contribute to the development and maintenance of cancer...
- SYNAPTIC CALCIUM CHANNELS: PROBING WITH TOXIN PEPTIDESDoju Yoshikami; Fiscal Year: 1990..Omega-Conus magus toxin (omega CmTX), a peptide with a sequence somewhat homologous to omega CgTX, behaves similarly to omega CgTX...
- Structure/Function of Gap JunctionsTHADDEUS BARGIELLO; Fiscal Year: 2009..A recent model of the Cx32 channel (Fleishman et al...
- Structure Function in Low Resistance JunctionsCamillo Peracchia; Fiscal Year: 2005..function, such as cardiac arrhythmia, uterine dysfunction, X- linked Charcot-Marie-Tooth demyelinating disease (CMTX1), cardiac malformation, congenital deafness, and so on...
- Connexins in Nerve Regeneration and Inherited NeuropathyCharles Abrams; Fiscal Year: 2009DESCRIPTION (provided by applicant): A fundamental principle underlying this grant is that connexin 32 (Cx32) is required for normal function of Schwann cells...
- 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. ..
- MOLECULAR BASIS OF HEREDITARY NEURALGIC AMYOTROPHYPHILLIP CHANCE; Fiscal Year: 2008..Moreover, characterization of the HNA gene may have broader pathophysiological and therapeutic implications for more common idiopathic forms of brachial neuropathy. [unreadable] [unreadable]..
- Connexins in Neuronal and Glial Gap Junctions in the Central Nervous SystemJOHN RASH; Fiscal Year: 2007..abstract_text> ..
- Identification and characterization of the ALS4 genePHILLIP CHANCE; Fiscal Year: 2006..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
- Gap Junctions and Connexins in Developing CNSJOHN RASH; Fiscal Year: 2005....
- "Connexin-Dependent Transcriptomic Networks in Controlling the Heart Rhythm"DUMITRU ANDREI IACOBAS; Fiscal Year: 2010..Our project has the unique feature of describing and quantifying the Cx40- and Cx43-dependent Gene Regulatory Networks of the heart rhythm, with the long term goal to open novel therapeutic horizons in cardiology. ..
- Neuronal Gap Junctions: Cx36 Gating, Binding & FunctionDAVID SPRAY; Fiscal Year: 2006..These studies use a multidisciplinary approach directed at exploring a new concept in the field and as such are expected to lead to novel understanding of regulation and roles of gap junctions in the nervous system. ..
- Gene Expression in Inflammatory MyopathiesSteven Greenberg; Fiscal Year: 2005..This work may provide further diagnostic approaches to these disorders and contribute to the understanding of their pathogenesis. ..
- GAP JUNCTIONS AND SCHWANN CELLSDAVID SPRAY; Fiscal Year: 2002..Because point mutations in Cx32 are responsible for the X-linked form of Charcot-Marie-Tooth syndrome (CMTX), a demyelinating peripheral neuropathy,..
- Vesicle recycling at developing NMJsRita J Balice Gordon; Fiscal Year: 2010....
- Gap Junction and Bone Cell Responses to Physical SignalsHenry J Donahue; Fiscal Year: 2010..Additionally, an understanding of how mechanical signals regulate bone cell proliferation and differentiation would be beneficial in designing in vitro environments, i.e. bioreactors, for novel bone tissue engineering protocols. ..
- Genetics of neuromuscular synaptogenesis in zebrafishRita Balice Gordon; Fiscal Year: 2008..Identification of the underlying genetic defects in these mutants will expand our understanding of the molecular mechanisms that mediate the formation and function of neuromuscular and other synapses. ..
- BIOLOGICALLY BASED CANCER RISK ASSESSMENT FOR MIXTURESE Luebeck; Fiscal Year: 2001..To evaluate the usefulness of the TEF approach we propose to analyze the Allegheny/non-Allegheny coke oven cohort data, as an example. ..
- Biliary oxysterols and cholangiocarcinomaRAHUL P KUVER; Fiscal Year: 2010..abstract_text> ..
- Axonal alterations in demyelinating diseasesSTEVEN SIMON SCHERER; Fiscal Year: 2011..Aim #3: What Na,K-ATPase isoforms are expressed by myelinated axons and demyelinated axons? we will localize alpha1-3 by immunoelectron microscopy in CMSand PNS myelinated axons, along with their beta subunits. ..
- Optimized Microarray Analysis of Neural DifferentiationDAVID SPRAY; Fiscal Year: 2002..We expect that these studies will not only improve our use of the microarray analysis, but will develop new concepts by which such expression patterns are generally used. ..
- 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. ..
- LENS GAP JUNCTIONS--IDENTITY AND PROPERTIESDAVID SPRAY; Fiscal Year: 2001..abstract_text> ..
- CHOLESTEROL TRANSPORT IN GALLBLADDER EPITHELIAL CELLSRahul Kuver; Fiscal Year: 2003..3. Compare and contrast the mechanisms of activation of ABCA1 via the cAMP responsive and the LXRalpha/RXR- responsive pathways. ..
- In-Vivo Confocal Imaging of Meissner's Corpuscles as a Measure of HIV NeuropathyDavid Herrmann; Fiscal Year: 2008..In-vivo RCM of MCs may prove to have wide application for early identification of sensory peripheral neuropathies, and to assess effectiveness of therapy. [unreadable] [unreadable] [unreadable]..
- How do Cx32 and Cx47 mutants cause CNS demyelination?JENNIFER ORTHMAN; Fiscal Year: 2007..Defects in the genes that encode these connexins, GJB1/Cx32 and GJA12/Cx47, cause CNS white matter tract disorders, including X-linked Charcot-Marie-Tooth Disease and ..
- MSM Scales of carcinogenesis: cells, crypts and cancerE Luebeck; Fiscal Year: 2007..This includes consequences for cancer screening, early detection, and the testing of specific intervention and prevention strategies. [unreadable] [unreadable]..
- MUCIN SECRETION IN COLUMNAR EPITHELIAL CELLSRahul Kuver; Fiscal Year: 2003..The sponsor's group's expertise in biliary cell biology will ensure a supportive and stimulating environment for the candidate. ..
- MODELING AIRWAY RESPONSE TO BORDETELLA SP INFECTIONScott Boitano; Fiscal Year: 2003..A greater understanding of bacterial/host interactions and their resulting physiological significance should lead to better development of prevention therapies and treatment strategies against bacterial invasion. ..
- Neuromuscular synaptogenesis in zebrafishRita Balice Gordon; Fiscal Year: 2004....
- Opioids, Stress and Noradrenergic NeuronsElisabeth Van Bockstaele; Fiscal Year: 2006..Appropriate training in the responsible conduct of research is also described within the application. ..
- Epidermal Innervation as an Outcome MeasureDavid Herrmann; Fiscal Year: 2006..Dr. Herrmann will also examine a method to simplify the analysis of skin biopsy specimens, for easier application in large clinical trials. ..
- Genetic approaches to neurotrophin signalingRita Balice Gordon; Fiscal Year: 2006....
- Luminescence Imaging: Molecules, Cells and TissuesDAVID SPRAY; Fiscal Year: 2006..It also includes plans for training as well as inclusion of relevant methods in a graduate student course. [unreadable] [unreadable]..
- Gap Junctions and Cancer Drug TherapyRANDALL RUCH; Fiscal Year: 2005..These studies may lead to new cancer therapy paradigms and treatments. ..
- The Role of Connexin32 in the Pathogenesis of CMTXSteven Scherer; Fiscal Year: 2006DESCRIPTION (provided by the applicant): Connexin 32 (Cx32) belongs to a gene family of at least 15 members (in mammals), all of which encode gap junction proteins...
- Trk-mediated signaling at neuromuscular synapsesRita Balice Gordon; Fiscal Year: 2005....
- IC Communication in Breast Cancer Metastasis to BoneHenry Donahue; Fiscal Year: 2005..The results of this project will provide insights into the mechanism by which breast cancer cells preferentially metastasize to bone, an important step in developing approaches to inhibit bone metastasis. ..
- Very Low Naltrexone Treatment of Opiate WithdrawalElisabeth Van Bockstaele; Fiscal Year: 2005..The information collected will provide the necessary foundation for designing detoxification trials in humans. ..