CLCN7

Summary

Gene Symbol: CLCN7
Description: chloride voltage-gated channel 7
Alias: CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, H(+)/Cl(-) exchange transporter 7, chloride channel 7 alpha subunit, chloride channel protein 7, chloride channel, voltage-sensitive 7, protein phosphatase 1, regulatory subunit 63
Species: human

Top Publications

  1. ncbi ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family
    S Brandt
    Center for Molecular Neurobiology Hamburg, ZMNH, Hamburg University, Germany
    FEBS Lett 377:15-20. 1995
  2. ncbi Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
    U Kornak
    Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, D 20246, Hamburg, Germany
    Cell 104:205-15. 2001
  3. ncbi Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
    E Cleiren
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 10:2861-7. 2001
  4. ncbi Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
    Ana Belinda Campos-Xavier
    Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Hum Genet 112:186-9. 2003
  5. ncbi Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II
    Steven G Waguespack
    Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
    J Bone Miner Res 18:1513-8. 2003
  6. ncbi Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
    Annalisa Frattini
    Istituto di Tecnologie Biomediche, CNR, Milan, Italy
    J Bone Miner Res 18:1740-7. 2003
  7. pmc Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II
    Kim Henriksen
    Nordic Bioscience, Herlev, Denmark
    Am J Pathol 164:1537-45. 2004
  8. ncbi ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function
    Philipp F Lange
    Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, Falkenried 94, D 20246 Hamburg, Germany
    Nature 440:220-3. 2006
  9. ncbi Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation
    Steven G Waguespack
    Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas M D Anderson Cancer Center, 1400 Holcombe Blvd, Unit 435, Houston, Texas 77030, USA
    J Clin Endocrinol Metab 92:771-8. 2007
  10. doi The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes
    Austin R Graves
    Membrane Transport Biophysics Unit, Porter Neuroscience Research Center, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, Building 35, MSC 3701, Bethesda, Maryland 20892, USA
    Nature 453:788-92. 2008

Research Grants

  1. The Role of PLEKHM1 in Osteoclast Function
    Haibo Zhao; Fiscal Year: 2010
  2. Frederick R Maxfield; Fiscal Year: 2014
  3. Nawreen Rahman; Fiscal Year: 2014
  4. PROTEOMICS OF REGULATED EXOCYTOSIS IN OSTEOCLASTS
    F Ross; Fiscal Year: 2007
  5. C1C CHANNELS IN A HOMOGENEOUS EPITHELIUM
    JOSEPH MINDELL; Fiscal Year: 2002
  6. Molecular Basis of Glutamate Transport
    Christof Grewer; Fiscal Year: 2008
  7. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
  8. Identification of Genes for Alcohol Preference in Noninbred Rats and Mice
    Paula Bice; Fiscal Year: 2009

Scientific Experts

Detail Information

Publications149 found, 100 shown here

  1. ncbi ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family
    S Brandt
    Center for Molecular Neurobiology Hamburg, ZMNH, Hamburg University, Germany
    FEBS Lett 377:15-20. 1995
    ..Hydropathy analysis indicates that domain D4 cannot serve as a transmembrane domain. Both ClC-6 and ClC-7 cannot be expressed as chloride channels in Xenopus oocytes, either singly or in combination...
  2. ncbi Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
    U Kornak
    Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, D 20246, Hamburg, Germany
    Cell 104:205-15. 2001
    ..We also identified CLCN7 mutations in a patient with human infantile malignant osteopetrosis...
  3. ncbi Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
    E Cleiren
    Department of Medical Genetics, University of Antwerp, Belgium
    Hum Mol Genet 10:2861-7. 2001
    ..3, we now report seven different mutations in the gene encoding the ClCN7 chloride channel in all 12 ADO II families analysed...
  4. ncbi Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
    Ana Belinda Campos-Xavier
    Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Hum Genet 112:186-9. 2003
    ..of autosomal recessive malignant osteopetrosis have been ascribed to mutations in the chloride channel 7 gene (CLCN7), which accounts for all autosomal dominant type II cases reported to date...
  5. ncbi Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II
    Steven G Waguespack
    Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
    J Bone Miner Res 18:1513-8. 2003
    ..In 11 of 12 kindreds, five different missense mutations were identified in the ClCN7 gene, indicating the genetic basis and possible dominant negative mechanism for ADO2.
  6. ncbi Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
    Annalisa Frattini
    Istituto di Tecnologie Biomediche, CNR, Milan, Italy
    J Bone Miner Res 18:1740-7. 2003
    ..patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive mutations...
  7. pmc Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II
    Kim Henriksen
    Nordic Bioscience, Herlev, Denmark
    Am J Pathol 164:1537-45. 2004
    Autosomal dominant osteopetrosis II (ADOII) is a relatively benign disorder caused by a missense mutation in the ClCN7 gene...
  8. ncbi ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function
    Philipp F Lange
    Zentrum fur Molekulare Neurobiologie Hamburg, ZMNH, Universitat Hamburg, Falkenried 94, D 20246 Hamburg, Germany
    Nature 440:220-3. 2006
    ..3). The finding that grey-lethal mice, just like ClC-7-deficient mice, show lysosomal storage and neurodegeneration in addition to osteopetrosis implies a more general importance for ClC-7-Ostm1 complexes...
  9. ncbi Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation
    Steven G Waguespack
    Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas M D Anderson Cancer Center, 1400 Holcombe Blvd, Unit 435, Houston, Texas 77030, USA
    J Clin Endocrinol Metab 92:771-8. 2007
    ..osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene...
  10. doi The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes
    Austin R Graves
    Membrane Transport Biophysics Unit, Porter Neuroscience Research Center, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 35 Convent Drive, Building 35, MSC 3701, Bethesda, Maryland 20892, USA
    Nature 453:788-92. 2008
    ....
  11. doi Characterization of acid flux in osteoclasts from patients harboring a G215R mutation in ClC-7
    Kim Henriksen
    Nordic Bioscience A S, Herlev, Denmark
    Biochem Biophys Res Commun 378:804-9. 2009
    ..These data demonstrate that ClC-7 is essential for bone resorption, via its role in acidification of the lysosomes and resorption lacunae in osteoclasts...
  12. doi Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells
    Hiroshi Kajiya
    Department of Physiological Science and Molecular Biology, Fukuoka Dental College, Tamura 2 15 1, Sawara ku, Fukuoka, 8140193, Japan
    Pflugers Arch 458:1049-59. 2009
    ClC7 Cl(-) channels (Clcn7) are crucial for osteoclastic bone resorption and have heterozygous mutation in autosomal osteopetrosis type II (ADO II) patients...
  13. doi Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders
    Michael P Whyte
    Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, MO 63131 3597, USA
    J Bone Miner Res 25:2515-26. 2010
    ..Most cases are explained by loss-of-function mutation within the genes that encode either chloride channel 7 (CLCN7) or a vacuolar proton pump subunit (TCIRG1), each compromising acid secretion by osteoclasts...
  14. doi Intracellular ClC-3 chloride channels promote bone resorption in vitro through organelle acidification in mouse osteoclasts
    Fujio Okamoto
    Dept of Physiological Science and Molecular Biology, Fukuoka Dental College, 2 15 1 Tamura, Sawara ku, Fukuoka 814 0193, Japan
    Am J Physiol Cell Physiol 294:C693-701. 2008
    ..channels expressed in osteoclasts are important for bone resorption since it has been shown that disruption of the ClCN7 gene in mice leads to severe osteopetrosis...
  15. doi Severe developmental bone phenotype in ClC-7 deficient mice
    A V Neutzsky-Wulff
    Nordic Bioscience A S, Herlev, DK 2730, Denmark
    Dev Biol 344:1001-10. 2010
    ..Bone formation paremeters were reduced; however, bone formation and mineralization were found to be heterogenous and continuing...
  16. ncbi DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity
    Ching Wan Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China
    J Hum Genet 52:98-101. 2007
    ..osteopetrosis, a severe disease causing early infantile death in humans, is caused by mutations in the TCIRG1, CLCN7, or OSTM1 genes...
  17. doi Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7
    Lena Wartosch
    Leibniz Institut für Molekulare Pharmakologie and Max Delbrück Centrum für Molekulare Medizin, Robert Rossle Str 10, D 13125 Berlin, Germany
    FASEB J 23:4056-68. 2009
    ..These experiments demonstrate that lysosomal pathology is a cell-autonomous consequence of ClC-7 disruption and that ClC-7 is important for lysosomal protein degradation...
  18. ncbi Structure and function of V-ATPases in osteoclasts: potential therapeutic targets for the treatment of osteolysis
    J Xu
    Molecular Orthopaedic Laboratory, School of Surgery and Pathology, University of Western Australia, Nedlands, Australia
    Histol Histopathol 22:443-54. 2007
    ..This review summarizes recent research developments in V-ATPases with particular emphasis on osteoclast biology...
  19. pmc Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains
    Sofie Ignoul
    Laboratory of Membrane Transport, Department of Molecular Cell Biology, University of Leuven, Leuven, Belgium
    PLoS ONE 2:e474. 2007
    ..In this study we focus on human ClC-6, which is structurally most related to the late endosomal/lysomal ClC-7...
  20. ncbi Activation by acidic pH of CLC-7 expressed in oocytes from Xenopus laevis
    Linda Diewald
    Pharmakologisches Institute der Universität Mainz, Mainz, Germany
    Biochem Biophys Res Commun 291:421-4. 2002
    ..We therefore suggest that ClC-7 in oocytes is a functional chloride current at acidic pH. Since ClC-7 is also found in neuronal tissues and was upregulated in a rat pain model, we suggest a role of CLC-7 also for nociception and pain...
  21. ncbi Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1)
    U Kornak
    Zentrum für Molekulare Neurobiologie Hamburg ZMNH, Universitat Hamburg, Martinistrasse 85, 20246, Hamburg, Germany
    Biochim Biophys Acta 1447:100-6. 1999
    The CLC family of voltage-gated chloride channels comprises nine members in mammals. CLCN6 and CLCN7 belong to a novel, poorly characterized subbranch of this family...
  22. doi Microphthalmia transcription factor regulates the expression of the novel osteoclast factor GPNMB
    Vera M Ripoll
    Institute for Molecular Biosciences, Co operative Research Centre for Chronic Inflammatory Diseases, The University of Queensland, St Lucia, QLD 4072, Australia
    Gene 413:32-41. 2008
    ..expression during osteoclastogenesis was shown to exhibit similar kinetics to the known MITF targets, acp5 and clcn7. GPNMB expressed in RAW/C4 cells exhibited distinct subcellular distribution at different stages of osteoclast ..
  23. ncbi Chloride channels and hepatocellular function: prospects for molecular identification
    Xinhua Li
    Department of Physiology and Biophysics University of Texas Medical Branch, Galveston, Texas 77555 0641, USA
    Annu Rev Physiol 64:609-33. 2002
    ....
  24. ncbi [Function of the CLC chloride channels and their implication in human pathology]
    A Vandewalle
    INSERM U478, Faculte de Medecine Xavier Bichat, Paris
    Nephrologie 23:113-8. 2002
    ....
  25. pmc Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters
    Thomas J Jentsch
    FMP MDC, Leibniz Institut für Molekulare Pharmakologie and Max Delbrück Zentrum für Molekulare Medizin, Robert Rossle Strasse 10, D 13125 Berlin, FRG
    J Physiol 578:633-40. 2007
    ..Surprisingly, ClC-4 and ClC-5 (and probably ClC-3) do not function as Cl- channels, but rather as electrogenic Cl--H+ exchangers. This hints at an important role for luminal chloride in the endosomal-lysosomal system...
  26. doi Bone resorption inhibitor alendronate normalizes the reduced bone thickness of TRPV5(-/-) mice
    Tom Nijenhuis
    Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands
    J Bone Miner Res 23:1815-24. 2008
    ..Thus, TRPV5(-/-) mice are able to rescue the resulting defect in osteoclast-mediated bone resorption, possibly mediated by the long-term hypervitaminosis D or other (non)hormonal compensatory mechanisms...
  27. doi Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor
    Anna Villa
    Istituto di Tecnologie Biomediche, CNR, via Cervi 93, Segrate, Italy
    Calcif Tissue Int 84:1-12. 2009
    ..and artificially created mouse mutants, but the first five genes identified in human ARO (CA-II, TCIRG1, ClCN7, OSTM1, and PLEKHM1) were all involved in the effector function of mature osteoclasts, being linked to ..
  28. pmc Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2
    B Perdu
    Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
    Calcif Tissue Int 84:355-60. 2009
    ..Three strong functional candidate genes are within the delineated region. Clcn7 was previously shown to underlie different forms of osteopetrosis, in both human and mice...
  29. pmc Chloride channels and transporters in human corneal epithelium
    Lin Cao
    Department of Dermatology, University of California, Davis, CA 95618, USA
    Exp Eye Res 90:771-9. 2010
    ..Those molecules and their distribution may play important roles in maintaining resting Cl(-) fluxes and in regulating Cl(-) flux at corneal wounds, which may be a major contributor to wound electrical signaling...
  30. doi Odontoblast-like MDPC-23 cells function as odontoclasts with RANKL/M-CSF induction
    Xiaohong Duan
    Department of Oral Biology, School of Stomatology, The Fourth Military Medical University, 145 Changle West Road, Xi an, Shaanxi 710032, PR China
    Arch Oral Biol 58:272-8. 2013
    ..genes such as Trap, osteopetrosis-associated transmembrane protein 1 (Ostm1), chloride channel 7 (Clcn7), cathepsin K (Ctsk) as well as osteoclast-specific transcription factor and microphthalmia transcription factor (..
  31. pmc Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1
    Carmen F Ludwig
    From the Leibniz Institut für Molekulare Pharmakologie FMP and
    J Biol Chem 288:28611-9. 2013
    ..This gating process is drastically accelerated by many CLCN7 mutations underlying human osteopetrosis...
  32. doi Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology
    Amélie E Coudert
    Institut National de la Santé et de la Recherche Médicale U606, Hopital Lariboisiere, Paris, France
    Lab Invest 94:275-85. 2014
    ..Mutations in the CLCN7 gene have been reported to cause ADO II...
  33. doi [Genetic analysis of a novel mutation resulting in autosomal dominant osteopetrosis II]
    Xiaogang Li
    State Key Laboratory of Trauma, Burns and Combined Injury, Center of Bone Metabolism and Repair, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31:612-4. 2014
    To analyze potential mutation of chloride channel 7(CLCN7) gene in a patient with autosomal dominant osteopetrosis II (ADO II).
  34. pmc Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7
    Xin Wen
    Herman Ostrow School of Dentistry of USC, Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, USA
    Anat Rec (Hoboken) 298:1502-8. 2015
    ..These data demonstrate that ClC-7 deficiency impacts the development of the dentition and calvaria, but does not significantly disrupt amelogenesis...
  35. doi The ClC-7 Chloride Channel Is Downregulated by Hypoosmotic Stress in Human Chondrocytes
    Takashi Kurita
    Department of Molecular and Cellular Pharmacology, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya, Japan T K, H Y, Y S, Y I and Faculty of Kinesiology, University of Calgary, Calgary, Alberta, Canada W R G
    Mol Pharmacol 88:113-20. 2015
    ..These findings suggest novel targets for therapeutic intervention(s) and drug development for OA. ..
  36. pmc TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and Resorption
    Hanna Witwicka
    Department of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts, 01655 United States of America
    PLoS ONE 10:e0127537. 2015
    ..despite the presence of osteoclast acidification factors including carbonic anhydrase II, a3-V-ATPase, and the ClC7 chloride channel. Secretion of TRAP and cathepsin K were also markedly inhibited in knockdown cells...
  37. pmc Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7
    Xiang Chen
    Laboratory of Endocrinology and Metabolism, Department of Endocrinology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China
    Bone Res 4:16035. 2016
    ..which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7 (CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts...
  38. doi Identification of apilimod as a first-in-class PIKfyve kinase inhibitor for treatment of B-cell non-Hodgkin lymphoma
    Sophia Gayle
    LAM Therapeutics, Guilford, CT, United States
    Blood . 2017
    ..In the screen, TFEB (master transcriptional regulator of lysosomal biogenesis), and endosomal/lysosomal genes CLCN7, OSTM1, and SNX10 were identified as important determinants of apilimod sensitivity...
  39. ncbi Localization of mouse CLC-6 and CLC-7 mRNA and their functional complementation of yeast CLC gene mutant
    Y Kida
    Graduate School, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
    Histochem Cell Biol 115:189-94. 2001
    ..This study identified the cell types that express mCLC-6 and mCLC-7 in the mouse tissues, and the complementation assay suggested that mCLC-6 functions as an intracellular chloride channel...
  40. ncbi Genetic diseases of acid-base transporters
    Seth L Alper
    Molecular Medicine and Renal Units, Beth Israel Deaconess Medical Center, Department of Medicine and Cell Biology, Harvard Medical School Boston, Massachusetts 02215, USA
    Annu Rev Physiol 64:899-923. 2002
    ..Study of acid-base transport disease-associated mutations should enhance our understanding of protein structure-function relationships and their impact on the physiology of cell, tissue, and organism...
  41. ncbi Neurological aspects of osteopetrosis
    C G Steward
    BMT Unit, Royal Hospital for Children, Bristol, UK
    Neuropathol Appl Neurobiol 29:87-97. 2003
    ..of vacuolar-type H(+)-ATPase, encoded by the gene variously termed ATP6i or TCIRG1] or the ClC-7 chloride channel (ClCN7 gene). These pumps are responsible for acidifying the bone surface beneath the osteoclast...
  42. ncbi Severe malignant osteopetrosis caused by a GL gene mutation
    Paola Quarello
    Dipartimento di Scienze Pediatriche, Universita di Torino, Turin, Italy
    J Bone Miner Res 19:1194-9. 2004
    ..T-cell immune-regulator-1 (TCIRG1) gene, which is mutated in >50% of the patients, and the chloride channel 7 (ClCN7) gene, which accounts for approximately 10% of cases...
  43. ncbi Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins
    Olaf Scheel
    Zentrum für Molekulare Neurobiologie, ZMNH, Universitat Hamburg, Falkenried 94, D 20246 Hamburg, Germany
    Nature 436:424-7. 2005
    ..ClC-4 and ClC-5 may still compensate the charge accumulation by endosomal proton pumps, but are expected to couple directly vesicular pH gradients to Cl- gradients...
  44. pmc A cation counterflux supports lysosomal acidification
    Benjamin E Steinberg
    Program in Cell Biology, Hospital for Sick Children, Toronto, Canada M5G 1X8
    J Cell Biol 189:1171-86. 2010
    ..We conclude that cations, in addition to chloride, can support lysosomal acidification and defects in lysosomal anion conductance cannot explain the impaired microbicidal capacity of CF phagocytes...
  45. doi ClC-3 is a candidate of the channel proteins mediating acid-activated chloride currents in nasopharyngeal carcinoma cells
    Liwei Wang
    Department of Physiology, Medical College, Jinan University, Guangzhou, China
    Am J Physiol Cell Physiol 303:C14-23. 2012
    ..ClC-3 is a candidate of the channel proteins that mediate or regulate the acid-activated chloride current in nasopharyngeal carcinoma cells...
  46. pmc A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
    Ban Mousa Rashid
    Department of Histopathology, Shorsh General Hospital, Kurdistan Regional Government, Sulaimaniyah, Iraq
    J Med Case Rep 7:7. 2013
    ..The autosomal recessive types are the most severe forms with symptoms in very early childhood, whereas the autosomal dominant classes exhibit a heterogeneous trait with milder symptoms, often at later childhood or adulthood...
  47. pmc Distinctive subdomains in the resorbing surface of osteoclasts
    Kinga A Szewczyk
    Division of Basic Medical Sciences, St George s, University of London, Cranmer Terrace, Tooting, London, United Kingdom
    PLoS ONE 8:e60285. 2013
    ..Therefore, ClC-7 might serve not only to provide the counter-ions that enable proton pumping, but also to facilitate resorption by acting as a 'functional sealing zone'...
  48. pmc A model of lysosomal pH regulation
    Yoichi Ishida
    Department of History and Philosophy of Science, University of Pittsburgh, Pittsburgh, PA 15260, USA
    J Gen Physiol 141:705-20. 2013
    ....
  49. doi Autosomal dominant osteopetrosis revisited: lessons from recent studies
    Jens Bollerslev
    Section of Specialized Endocrinology, Medical Clinic B, Rikshospitalet, Oslo University Hospital, N 0027 Oslo, Norway
    Eur J Endocrinol 169:R39-57. 2013
    ..Thereby, these studies have highlighted several intriguing treatment possibilities, employing novel modes of action, which could provide benefits to the treatment of osteoporosis. ..
  50. doi Osteopetrosis: genetics, treatment and new insights into osteoclast function
    Cristina Sobacchi
    Unit Of Support Institute of Genetic and Biomedical Research, Milan Unit, National Research Council, Humanitas Clinical and Research Centre, Via Manzoni 113, 20089 Rozzano, Italy
    Nat Rev Endocrinol 9:522-36. 2013
    ..The genetic basis of this disease is now largely uncovered: mutations in TCIRG1, CLCN7, OSTM1, SNX10 and PLEKHM1 lead to osteoclast-rich ARO (in which osteoclasts are abundant but have severely ..
  51. doi Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis
    Tingting Yu
    Department of Laboratory Medicine, Shanghai Ninth People s Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200011, P R China
    Mol Med Rep 9:1191-6. 2014
    ..Arg670X), in TCIRG1, and a heterozygous splicing mutation, c.1798‑1G>T, in the chloride channel 7 gene (CLCN7). Two aberrant forms of the CLCN7 transcripts, c.1798_1883 (exon 20) deletion predicted to cause p...
  52. pmc Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions
    Stefanie Weinert
    Leibniz Institut fur Molekulare Pharmakologie FMP, Berlin, Germany Max Delbrück Centrum für Molekulare Medizin MDC, Berlin, Germany
    EMBO Rep 15:784-91. 2014
    ..Its conversion into a Cl(-) conductance in Clcn7(unc/unc) mice entails similarly severe lysosomal storage, but less severe osteopetrosis and no change in fur ..
  53. doi Bradykinin regulates osteoblast differentiation by Akt/ERK/NFκB signaling axis
    Swati Srivastava
    Molecular Endocrinology Laboratory, Department of Biotechnology, Indian Institute of Technology Roorkee, Roorkee, Uttarakhand, India
    J Cell Physiol 229:2088-105. 2014
    ..differentiation of bone marrow derived preosteoclast cells by upregulating the expression of c-fos, NFATC1, TRAP, clcn7, cathK, and OSCAR genes and increasing TRAP activity through NFκB pathway...
  54. pmc Regulatory-auxiliary subunits of CLC chloride channel-transport proteins
    Alejandro Barrallo-Gimeno
    Seccion de Fisiologia, Departamento de Ciencias Fisiologicas II, University of Barcelona, Barcelona, Spain
    J Physiol 593:4111-27. 2015
    ..We will review here their properties and their role in normal chloride physiology and the pathological consequences of their improper function. ..
  55. doi Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II)
    Hui Zheng
    Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People s Hospital, 600 Yi Shan Rd, Shanghai, 200233, People s Republic of China
    J Bone Miner Metab 34:440-6. 2016
    ..Chloride channel 7 (CLCN7) has been reported to be the causative gene...
  56. pmc Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization
    Jing Guo
    Department Oral Cell Biology, Academic Center of Dentistry Amsterdam ACTA, University of Amsterdam and VU University of Amsterdam, MOVE Research Institute, Gustav Mahlerlaan 3004, 1081 LA, Amsterdam, The Netherlands
    Cell Tissue Res 363:361-70. 2016
    ..Craniofacial bones and developing teeth in Clcn7(-/-) mice were examined by micro-CT, immunohistochemistry, quantified histomorphometry and electron microscopy...
  57. doi Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients
    Q Pang
    Department of Endocrinology, Key Laboratory of Endocrinology, the Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China
    Osteoporos Int 27:1047-55. 2016
    Osteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (..
  58. doi A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient
    Binghui Zeng
    Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat Sen University, Guangzhou, China
    Gene 576:176-81. 2016
    Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO)...
  59. doi Surface vacuolar ATPase in ameloblastoma contributes to tumor invasion of the jaw bone
    Shohei Yoshimoto
    Laboratory of Molecular and Cellular Biochemistry, Faculty of Dental Science, Kyushu University, Fukuoka 812 8582, Japan
    Int J Oncol 48:1258-70. 2016
    ..These results suggest that the slow expansion of several typical types of ameloblastomas in jaw bone is attributable to its slow growth and low demineralization ability...
  60. doi [Malignant infantile osteopetrosis: Case report of a 5-month-old boy]
    J Ledemazel
    Clinique Universitaire de Pediatrie, HCE, CHU de Grenoble, CS10217, 38430 Grenoble cedex 09, France Electronic address
    Arch Pediatr 23:389-93. 2016
    ..The genetic investigation confirmed the diagnosis. Compound heterozygous mutations in the CLCN7 gene were identified, including an as yet undescribed mutation...
  61. doi Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis
    Eleonora Palagano
    Humanitas Clinical and Research Institute, Rozzano, Italy
    J Bone Miner Res 32:99-105. 2017
    ..the presence of a synonymous variant in known ARO genes, namely in the TCIRG1 gene in one patient and in the CLCN7 in the other patient, predicted to impact on the splicing process...
  62. pmc Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
    Sian E Piret
    Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, United Kingdom
    Am J Med Genet A 170:2988-2992. 2016
    ..643G>A; p.Gly215Arg) in the gene encoding the chloride/proton antiporter 7 (gene CLCN7, protein CLC-7), which was confirmed by amplification refractory mutation system (ARMS)-PCR, and to be present in ..
  63. pmc A mathematical model of osteoclast acidification during bone resorption
    Frank V Marcoline
    Cardiovascular Research Institute, University of California, San Francisco, CA 94158, USA Department of Pharmaceutical Chemistry, University of California, San Francisco, CA 94158, USA
    Bone 93:167-180. 2016
    ....
  64. pmc Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models
    Imranul Alam
    Department of Orthopedic Surgery, Indiana University, 541 North Clinical Drive, Indianapolis, IN 46202, USA
    Bone 59:66-75. 2014
    ..In most patients it results from heterozygous missense mutations in the chloride channel 7 (CLCN7) gene, encoding for a 2Cl(-)/1H(+) antiporter...
  65. ncbi A family of putative chloride channels from Arabidopsis and functional complementation of a yeast strain with a CLC gene disruption
    M Hechenberger
    Center for Molecular Neurobiology ZMNH, Hamburg University, Martinistr 52, D 20246 Hamburg, Germany
    J Biol Chem 271:33632-8. 1996
    ..This suggests that in Arabidopsis AtCLC-d functions as an intracellular chloride channel...
  66. ncbi [Various functions of ClC-type Cl- channels]
    Tetsushi Furukawa
    Department of Bio Informational Pharmacology, Medical Research Institute, Tokyo Medical and Dental University, Japan
    Nihon Yakurigaku Zasshi 122:375-83. 2003
    ..Abnormalities of these channels are also related to human diseases: abnormal ClC-K1 to diabetes insipidus and abnormal ClC-K2 to Bartter's syndrome...
  67. ncbi Recent advances in osteoclast biology and pathological bone resorption
    H C Blair
    Department of Pathology, University of Pittsburgh School of Medicine and Veteran s Affairs Medical Center, Pittsburgh, USA
    Histol Histopathol 19:189-99. 2004
    ..HCl secretion is dependent on chloride channels; a chloride channel homologue, CLCN7, is another common defect in osteopetrosis...
  68. ncbi Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis)
    Sari L Alatalo
    Institute of Biomedicine, Department of Anatomy, University of Turku, FIN 20520 Turku, Finland
    Clin Chem 50:883-90. 2004
    ..ADO2), is caused by ineffective osteoclastic bone resorption resulting from mutations in the chloride channel 7 (ClCN7) gene...
  69. pmc Biophysical and pharmacological characterization of hypotonically activated chloride currents in cortical astrocytes
    Kimberly A Parkerson
    Department of Neurobiology, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Glia 46:419-36. 2004
    ..Intriguingly, although we found at least seven Cl- channel proteins from three different gene families in astrocytes, none appeared to be active in resting cells...
  70. ncbi Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations
    Ana Belinda Campos-Xavier
    Am J Med Genet A 133:216-8. 2005
  71. pmc Relative contribution of chloride channels and transporters to regulatory volume decrease in human glioma cells
    Nola Jean Ernest
    Department of Neurobiology, University of Alabama at Birmingham, USA
    Am J Physiol Cell Physiol 288:C1451-60. 2005
    ..Finally, we identified several candidate proteins that may be involved in RVD, including the Cl(-) channels ClC-2, ClC-3, ClC-5, ClC-6, and ClC-7 and the transporters KCC1 and KCC3a...
  72. ncbi Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers
    Tatsunori Suzuki
    Department of Nephrology, Graduate School of Medicine, Tokyo Medical and Dental University, 1 5 45 Yushima Bunkyo Tokyo, Japan
    J Cell Physiol 206:792-8. 2006
    ..These results suggest that within cells ClC-3, ClC-4, and ClC-5 may have combinatorial functions, whereas ClC-6 and ClC-7 are more likely to function as homo-oligomers...
  73. ncbi The role of chloride channels in osteoclasts: ClC-7 as a target for osteoporosis treatment
    S Schaller
    Nordic Bioscience A S, Herlev, Denmark
    Drug News Perspect 18:489-95. 2005
    ..Thus, ClC-7 inhibitors may prove to be potent for prevention and treatment of osteoporosis...
  74. ncbi Expression of the chloride channel CLC-K in human airway epithelial cells
    Jennifer L Mummery
    Department of Physiology and Biophysics, Dalhousie University, Halifax, NS B3H 1X5, Canada
    Can J Physiol Pharmacol 83:1123-8. 2005
    ..Furthermore, this work represents the first evidence for functional ClC-K chloride channel expression within the lung...
  75. ncbi Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties
    Kang Chu
    Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
    J Bone Miner Res 21:1089-97. 2006
    Asymptomatic gene carriers and clinically affected ADO2 subjects have the same ClCN7 mutation. We examined osteoclastic bone resorption in vitro as well as osteoclast formation, several markers, acid secretion, and cytoskeletal structure...
  76. ncbi Are nonresorbing osteoclasts sources of bone anabolic activity?
    Morten A Karsdal
    Nordic Bioscience A S, Herlev, Denmark
    J Bone Miner Res 22:487-94. 2007
    ..Finally, we describe the likely possibility that bone resorption can be attenuated pharmacologically without the undesirable reduction in bone formation...
  77. doi Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
    Alessandra Pangrazio
    Institute of Biomedical Technologies, National Research Council, 20090 Segrate, Italy
    Hum Mutat 31:E1071-80. 2010
    ..While several genes have been involved in the pathogenesis of the different types of osteopetroses, the CLCN7 gene has drawn the attention of many researchers, as mutations within this gene are associated with very different ..
  78. pmc Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
    R Kohan
    Center for the Study of Inherited Metabolic Diseases CEMECO, Children s Hospital, Department of Medical Sciences, National University Cordoba, Argentina
    Curr Pharm Biotechnol 12:867-83. 2011
    ..ucl.ac.uk/ncl) have been described. Other NCL genes are hypothesized, including CLN4 and CLN9; CLCN6, CLCN7 and possibly SGSH are under study...
  79. pmc ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity
    Lilia Leisle
    Leibniz Institut für Molekulare Pharmakologie FMP and Max Delbrück Centrum für Molekulare Medizin MDC, Berlin, Germany
    EMBO J 30:2140-52. 2011
    ..Reversal potentials of tail currents revealed a 2Cl(-)/1H(+)-exchange stoichiometry. Several disease-causing CLCN7 mutations accelerated gating...
  80. doi Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia
    Yang Xue
    Department of Oral and Maxillofacial Surgery, School of Stomatology, The Fourth Military Medical University, 145 West Changle Road, Xi an, Shaanxi 710032, PR China
    J Craniomaxillofac Surg 40:416-20. 2012
    ..We present the first Chinese IARO patient with a novel homozygous variant in CLCN7 gene (p. Pro470Leu) and an ADO II patient with a heterozygous variant in CLCN7 gene (p. Arg286Trp)...
  81. ncbi Platinum nanoparticles suppress osteoclastogenesis through scavenging of reactive oxygen species produced in RAW264.7 cells
    Mayumi Nomura
    Department of Gerodontology, Hokkaido University Graduate School of Dental Medicine, Kita ku, Sapporo 060 8586, Japan
    J Pharmacol Sci 117:243-52. 2011
    ..as c-fms, NFATc1, NFATc2, and DC-STAMP as well as that of osteoclast-specific marker genes including MMP-9, Cath-K, CLC7, ATP6i, CTR, and TRAP...
  82. doi Lysosomal acidification mechanisms
    Joseph A Mindell
    Membrane Transport Biophysics Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Physiol 74:69-86. 2012
    ..Exciting new results suggest that lysosomal pH may be dynamically regulated in some cell types...
  83. doi Laparoendoscopic single-site cholecystectomy versus conventional laparoscopic cholecystectomy: a systematic review of randomized controlled trials
    Dong Wang
    Department of General Surgery, Institute for Minimally Invasive Surgery, Zhongda Hospital, Nanjing, Jiangsu, China
    ANZ J Surg 82:303-10. 2012
    ..Its safety, cosmetic results, complications, post-operative pain and post-operative stay are not confirmed by multi-centre randomized controlled studies...
  84. doi The antimicrobial peptide, LL-37, inhibits in vitro osteoclastogenesis
    C Supanchart
    Department of Oral and Maxillofacial Surgery, Chiang Mai University, Chiang Mai, Thailand
    J Dent Res 91:1071-7. 2012
    ..005). Collectively, our findings demonstrate that LL-37 inhibits the in vitro osteoclastogenesis by inhibiting the calcineurin activity, thus preventing nuclear translocation of NFAT2...
  85. doi Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing
    Weiguo Sui
    Guangxi Key Laboratory of Metabolic Diseases Research, Central Laboratory of Guilin 181st Hospital, Guilin, 541002, China
    Gene 516:311-5. 2013
    ..exome sequencing of two affected individuals from an osteopetrosis family to identify a candidate mutation in CLCN7 (Y99C)...
  86. pmc An optical assay of the transport activity of ClC-7
    Ilaria Zanardi
    Istituto di Biofisica, CNR, Via De Marini 6, 16149 Genoa, Italy
    Sci Rep 3:1231. 2013
    ..These simple and robust functional assays of ClC-7 transport are well-suited to be applied in HTS of small-molecule inhibitors and may help to develop drugs suited for the treatment of osteoporosis...
  87. doi Characterization of an outward rectifying chloride current of Xenopus tropicalis oocytes
    Lenin David Ochoa-de la Paz
    Departamento de Neurobiologia Celular y Molecular, Instituto de Neurobiologia, Campus UNAM Juriquilla, Mexico
    Biochim Biophys Acta 1828:1743-53. 2013
    ..This result fits well with the electrophysiological data. Together, these results suggest that ClC-5 is a major, but not the sole channel responsible for this outwardly rectifying Cl(-) current...
  88. doi A novel inhibitory mechanism of nitrogen-containing bisphosphonate on the activity of Cl- extrusion in osteoclasts
    Kimiko Ohgi
    Department of Odontology, Fukuoka Dental College, Tamura 2 15 1, Sawara ku, Fukuoka 8140193, Japan
    Naunyn Schmiedebergs Arch Pharmacol 386:589-98. 2013
    ..These results suggest that nitrogen-containing bisphosphonates suppress the activity of osteoclastic acid-activated Cl(-) currents through FDPS inhibition, suggesting the inhibition of Cl(-) extrusion activity...
  89. doi The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families
    Chun Wang
    Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People s Hospital Affiliated with Shanghai Jiao Tong University, 600 Yishan Road, Shanghai, 200233, China
    J Bone Miner Metab 30:338-48. 2012
    ..The entire coding region and adjacent splice sites of the CLCN7, TCIRG1, LRP5 and SOST genes were amplified and directly sequenced...
  90. doi Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7
    Piranit Nik Kantaputra
    Faculty of Dentistry, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Chiang Mai University, DENTALAND CLINIC, Chiang Mai, Thailand
    Am J Med Genet A 158:909-16. 2012
    ..autosomal recessive osteopetrosis (ARO; OMIM 259700) has been reported to be associated with mutations in TCIRG1, CLCN7, or OSTM1...
  91. pmc The Arabidopsis central vacuole as an expression system for intracellular transporters: functional characterization of the Cl-/H+ exchanger CLC-7
    Alex Costa
    University of Padova, Via U Bassi 58 B, 35131 Padova, Italy
    J Physiol 590:3421-30. 2012
    ..The vacuolar expression system has the potential to become a valuable tool for functional studies on intracellular ion channels and transporters from animal cells...
  92. pmc Cross-talk between TRPML1 channel, lipids and lysosomal storage diseases
    Norbert Weiss
    Hotchkiss Brain Institute Department of Physiology and Pharmacology University of Calgary Calgary, AB Canada
    Commun Integr Biol 5:111-3. 2012
    ..membrane proteins (LMPs, that represent the second class of lysosomal proteins), including the V-type proton (H(+))-ATPase(3) and the chloride ion channel CLC7(4) that pumps protons from the cytosol across the lysosomal membrane.
  93. doi A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient
    Alessandra Pangrazio
    UOS IRGB, Milan Unit, CNR, Milan, Italy
    Calcif Tissue Int 91:250-4. 2012
    ..Mutations in the CLCN7 gene are responsible not only for a substantial portion of ARO patients but also for other forms of osteopetrosis ..
  94. pmc Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed
    Yi Hsiang Hsu
    Hebrew SeniorLife Institute for Aging Research, 1200 Centre Street, Boston, Massachusetts 02131, USA
    J Clin Endocrinol Metab 97:E1958-77. 2012
    ..In addition, the identified genetic determinants may be used to enhance current risk factor profiles...
  95. pmc Adaptor protein complex 2-mediated, clathrin-dependent endocytosis, and related gene activities, are a prominent feature during maturation stage amelogenesis
    Rodrigo S Lacruz
    Center for Craniofacial Molecular Biology, Herman Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90605, USA
    J Bone Miner Res 28:672-87. 2013
    ..Atp6v0d2); ATPase, H(+) transporting, lysosomal V1 subunit B2 (Atp6v1b2); chloride channel, voltage-sensitive 7 (Clcn7); and cathepsin K (Ctsk)...
  96. ncbi Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
    E Heon
    Hopital Jules Gonin, Lausanne, Switzerland
    Arch Ophthalmol 114:193-8. 1996
    ..To identify the chromosomal location of the gene involved in the pathogenesis of autosomal dominant radial drusen (malattia leventinese)...
  97. ncbi The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression
    G Lennon
    Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genomics 33:151-2. 1996
  98. ncbi The exon-intron architecture of human chloride channel genes is not conserved
    J Eggermont
    Laboratorium voor Fysiologie, Katholieke Universiteit Leuven, Campus Gasthuisberg O and N, B 3000 Leuven, Belgium
    Biochim Biophys Acta 1397:156-60. 1998
    ..The corresponding region (3.4 kbp) of the human CLCN7 gene has now been cloned and sequenced...
  99. ncbi The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis
    R V Thakker
    Medical Research Council Molecular Endocrinology Group, Medical Research Council Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Nephrol Hypertens 7:385-8. 1998
    ..To date nine such voltage-gated CLCs (CLC-1 to CLC-7, CLC-Ka and CLC-Kb, which are encoded by the genes CLCN1 to CLCN7, CLC-Ka and CLC-Kb, respectively) have been identified in mammals...
  100. ncbi Locus heterogeneity of autosomal dominant osteopetrosis (ADO)
    K E White
    Department of Medicine, Indiana University School of Medicine, Indianapolis 46202, USA
    J Clin Endocrinol Metab 84:1047-51. 1999
    ..Our results demonstrate that there is locus heterogeneity of this disorder; therefore, mutations in at least two different genes can give rise to the ADO phenotype...

Research Grants8

  1. The Role of PLEKHM1 in Osteoclast Function
    Haibo Zhao; Fiscal Year: 2010
    ..such as c-src, [unreadable]3 integrin subunit, cathepsin K, TCIRG1 (encoding a3 subunit of vacuolar H+-ATPase), CLCN7 (encoding clc-7 chloride channel) and OSTM1 (grey lethal) disrupts osteoclast function...
  2. Frederick R Maxfield; Fiscal Year: 2014
    ..In Aim V the Interplay between sterols and membrane traffic will be explored. In particular, the function of tubules that emanate from late endosomes In response to transient sterol loading will be studied. ..
  3. Nawreen Rahman; Fiscal Year: 2014
    ....
  4. PROTEOMICS OF REGULATED EXOCYTOSIS IN OSTEOCLASTS
    F Ross; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  5. C1C CHANNELS IN A HOMOGENEOUS EPITHELIUM
    JOSEPH MINDELL; Fiscal Year: 2002
    ..These studies will dramatically improve our understanding of the role played by ClC channels in normal salt-secretion and will establish a paradigm for the eventual development of drugs to modulate these processes. ..
  6. Molecular Basis of Glutamate Transport
    Christof Grewer; Fiscal Year: 2008
    ..Furthermore, malfunctioning glutamate transporters have been implicated in several diseases of the nervous system. ..
  7. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ....
  8. Identification of Genes for Alcohol Preference in Noninbred Rats and Mice
    Paula Bice; Fiscal Year: 2009
    ..abstract_text> ..