Genomes and Genes
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
Publications149 found, 100 shown here
- ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel familyS 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...
- Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and manU 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...
- Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel geneE 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...
- Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosisAna 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...
- Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type IISteven 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.
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosisAnnalisa 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...
- Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type IIKim Henriksen
Nordic Bioscience, Herlev, Denmark
Am J Pathol 164:1537-45. 2004Autosomal dominant osteopetrosis II (ADOII) is a relatively benign disorder caused by a missense mutation in the ClCN7 gene...
- ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal functionPhilipp 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...
- Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutationSteven 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...
- The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomesAustin 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....
- Characterization of acid flux in osteoclasts from patients harboring a G215R mutation in ClC-7Kim 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...
- 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 cellsHiroshi 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. 2009ClC7 Cl(-) channels (Clcn7) are crucial for osteoclastic bone resorption and have heterozygous mutation in autosomal osteopetrosis type II (ADO II) patients...
- Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disordersMichael 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...
- Intracellular ClC-3 chloride channels promote bone resorption in vitro through organelle acidification in mouse osteoclastsFujio 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...
- Severe developmental bone phenotype in ClC-7 deficient miceA 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...
- 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 consanguinityChing 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...
- Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7Lena 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...
- Structure and function of V-ATPases in osteoclasts: potential therapeutic targets for the treatment of osteolysisJ 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...
- Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domainsSofie 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...
- Activation by acidic pH of CLC-7 expressed in oocytes from Xenopus laevisLinda 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...
- 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. 1999The 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...
- Microphthalmia transcription factor regulates the expression of the novel osteoclast factor GPNMBVera 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 ..
- Chloride channels and hepatocellular function: prospects for molecular identificationXinhua Li
Department of Physiology and Biophysics University of Texas Medical Branch, Galveston, Texas 77555 0641, USA
Annu Rev Physiol 64:609-33. 2002....
- [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....
- Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transportersThomas 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...
- Bone resorption inhibitor alendronate normalizes the reduced bone thickness of TRPV5(-/-) miceTom 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...
- Infantile malignant, autosomal recessive osteopetrosis: the rich and the poorAnna 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 ..
- Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2B 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...
- Chloride channels and transporters in human corneal epitheliumLin 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...
- Odontoblast-like MDPC-23 cells function as odontoclasts with RANKL/M-CSF inductionXiaohong 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 (..
- Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1Carmen 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...
- Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biologyAmélie 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...
- [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. 2014To analyze potential mutation of chloride channel 7(CLCN7) gene in a patient with autosomal dominant osteopetrosis II (ADO II).
- Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7Xin 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...
- The ClC-7 Chloride Channel Is Downregulated by Hypoosmotic Stress in Human ChondrocytesTakashi 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. ..
- TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and ResorptionHanna 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...
- Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7Xiang 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...
- Identification of apilimod as a first-in-class PIKfyve kinase inhibitor for treatment of B-cell non-Hodgkin lymphomaSophia 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...
- Localization of mouse CLC-6 and CLC-7 mRNA and their functional complementation of yeast CLC gene mutantY 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...
- Genetic diseases of acid-base transportersSeth 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...
- Neurological aspects of osteopetrosisC 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...
- Severe malignant osteopetrosis caused by a GL gene mutationPaola 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...
- Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteinsOlaf 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...
- A cation counterflux supports lysosomal acidificationBenjamin 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...
- ClC-3 is a candidate of the channel proteins mediating acid-activated chloride currents in nasopharyngeal carcinoma cellsLiwei 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...
- A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case seriesBan 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...
- Distinctive subdomains in the resorbing surface of osteoclastsKinga 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'...
- A model of lysosomal pH regulationYoichi Ishida
Department of History and Philosophy of Science, University of Pittsburgh, Pittsburgh, PA 15260, USA
J Gen Physiol 141:705-20. 2013....
- Autosomal dominant osteopetrosis revisited: lessons from recent studiesJens 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. ..
- Osteopetrosis: genetics, treatment and new insights into osteoclast functionCristina 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 ..
- Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosisTingting 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...
- Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functionsStefanie 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 ..
- Bradykinin regulates osteoblast differentiation by Akt/ERK/NFκB signaling axisSwati 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...
- Regulatory-auxiliary subunits of CLC chloride channel-transport proteinsAlejandro 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. ..
- 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...
- Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralizationJing 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...
- Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patientsQ 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. 2016Osteopetrosis 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 (..
- A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patientBinghui Zeng
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat Sen University, Guangzhou, China
Gene 576:176-81. 2016Osteopetrosis 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)...
- Surface vacuolar ATPase in ameloblastoma contributes to tumor invasion of the jaw boneShohei 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...
- [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...
- Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human OsteopetrosisEleonora 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...
- Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutationSian 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 ..
- A mathematical model of osteoclast acidification during bone resorptionFrank 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....
- Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease modelsImranul 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...
- A family of putative chloride channels from Arabidopsis and functional complementation of a yeast strain with a CLC gene disruptionM 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...
- [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...
- Recent advances in osteoclast biology and pathological bone resorptionH 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...
- 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...
- Biophysical and pharmacological characterization of hypotonically activated chloride currents in cortical astrocytesKimberly 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...
- Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutationsAna Belinda Campos-Xavier
Am J Med Genet A 133:216-8. 2005
- Relative contribution of chloride channels and transporters to regulatory volume decrease in human glioma cellsNola 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...
- Intracellular localization of ClC chloride channels and their ability to form hetero-oligomersTatsunori 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...
- The role of chloride channels in osteoclasts: ClC-7 as a target for osteoporosis treatmentS 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...
- Expression of the chloride channel CLC-K in human airway epithelial cellsJennifer 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...
- Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic propertiesKang Chu
Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
J Bone Miner Res 21:1089-97. 2006Asymptomatic 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...
- 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...
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra 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 ..
- Therapeutic approaches to the challenge of neuronal ceroid lipofuscinosesR 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...
- ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activityLilia 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...
- Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasiaYang 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)...
- Platinum nanoparticles suppress osteoclastogenesis through scavenging of reactive oxygen species produced in RAW264.7 cellsMayumi 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...
- Lysosomal acidification mechanismsJoseph 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...
- Laparoendoscopic single-site cholecystectomy versus conventional laparoscopic cholecystectomy: a systematic review of randomized controlled trialsDong 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...
- The antimicrobial peptide, LL-37, inhibits in vitro osteoclastogenesisC 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...
- Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencingWeiguo 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)...
- An optical assay of the transport activity of ClC-7Ilaria 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...
- Characterization of an outward rectifying chloride current of Xenopus tropicalis oocytesLenin 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...
- A novel inhibitory mechanism of nitrogen-containing bisphosphonate on the activity of Cl- extrusion in osteoclastsKimiko 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...
- The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis familiesChun 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...
- Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7Piranit 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...
- The Arabidopsis central vacuole as an expression system for intracellular transporters: functional characterization of the Cl-/H+ exchanger CLC-7Alex 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...
- Cross-talk between TRPML1 channel, lipids and lysosomal storage diseasesNorbert 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.
- A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patientAlessandra 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 ..
- Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headedYi 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...
- Adaptor protein complex 2-mediated, clathrin-dependent endocytosis, and related gene activities, are a prominent feature during maturation stage amelogenesisRodrigo 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)...
- Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21E 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)...
- The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expressionG Lennon
Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
Genomics 33:151-2. 1996
- The exon-intron architecture of human chloride channel genes is not conservedJ 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...
- The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosisR 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...
- 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...
- The Role of PLEKHM1 in Osteoclast FunctionHaibo 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...
- 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. ..
- Nawreen Rahman; Fiscal Year: 2014....
- PROTEOMICS OF REGULATED EXOCYTOSIS IN OSTEOCLASTSF Ross; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- C1C CHANNELS IN A HOMOGENEOUS EPITHELIUMJOSEPH 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. ..
- Molecular Basis of Glutamate TransportChristof Grewer; Fiscal Year: 2008..Furthermore, malfunctioning glutamate transporters have been implicated in several diseases of the nervous system. ..
- TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASISMichael Whyte; Fiscal Year: 2002....
- Identification of Genes for Alcohol Preference in Noninbred Rats and MicePaula Bice; Fiscal Year: 2009..abstract_text> ..