ClC7

1

Zeng B et al. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
Gene, 2016 Jan 15 , 576 (176-81).

2

Barrallo-Gimeno A et al. Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.
J. Physiol. (Lond.), 2015 Sep 15 , 593 (4111-27).

3

Zifarelli G A tale of two CLCs: biophysical insights toward understanding ClC-5 and ClC-7 function in endosomes and lysosomes.
J. Physiol. (Lond.), 2015 Sep 15 , 593 (4139-50).

4

Kurita T et al. The ClC-7 Chloride Channel Is Downregulated by Hypoosmotic Stress in Human Chondrocytes.
Mol. Pharmacol., 2015 Jul , 88 (113-20).

5

Capurro V et al. Functional analysis of acid-activated Cl⁻ channels: properties and mechanisms of regulation.
Biochim. Biophys. Acta, 2015 Jan , 1848 (105-14).

6

Wen X et al. Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7.
Anat Rec (Hoboken), 2015 Aug , 298 (1502-8).

7

Turner A et al. Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).
BMC Med. Genet., 2015 , 16 (115).

8

Li X et al. [Genetic analysis of a novel mutation resulting in autosomal dominant osteopetrosis II].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2014 Oct , 31 (612-4).

9

Coudert AE et al. Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.
Lab. Invest., 2014 Mar , 94 (275-85).

10

Zheng H et al. Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.
Joint Bone Spine, 2014 Mar , 81 (188-9).

11

Supanchart C et al. ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.
Bone, 2014 Jan , 58 (92-102).

12

Sartelet A et al. A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
Dis Model Mech, 2014 Jan , 7 (119-28).

13

Alam I et al. Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.
Bone, 2014 Feb , 59 (66-75).

14

Liang W et al. Swelling-activated Cl- currents and intracellular CLC-3 are involved in proliferation of human pulmonary artery smooth muscle cells.
J. Hypertens., 2014 Feb , 32 (318-30).

15

Barvencik F et al. CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
J. Bone Miner. Res., 2014 Apr , 29 (982-91).

16

Yu T et al. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Mol Med Rep, 2014 Apr , 9 (1191-6).

17

Bonapace G et al. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Ital J Pediatr, 2014 , 40 (90).

18

Duan X Ion Channels, Channelopathies, and Tooth Formation.
J. Dent. Res., 2013 Sep 27 , ().

19

Ludwig CF et al. Common Gating of Both CLC Transporter Subunits Underlies Voltage-dependent Activation of the 2Cl-/1H+ Exchanger ClC-7/Ostm1.
J. Biol. Chem., 2013 Oct 4 , 288 (28611-28619).

20

Duan X et al. Odontoblast-like MDPC-23 cells function as odontoclasts with RANKL/M-CSF induction.
Arch. Oral Biol., 2013 Mar , 58 (272-8).

21

Ishida Y et al. A model of lysosomal pH regulation.
J. Gen. Physiol., 2013 Jun , 141 (705-20).

22

Suh KS et al. Xanthohumol modulates the expression of osteoclast-specific genes during osteoclastogenesis in RAW264.7 cells.
Food Chem. Toxicol., 2013 Dec , 62 (99-106).

23

Bollerslev J et al. Autosomal dominant osteopetrosis revisited: lessons from recent studies.
Eur. J. Endocrinol., 2013 Aug , 169 (R39-57).

24

Ochoa-de la Paz LD et al. Characterization of an outward rectifying chloride current of Xenopus tropicalis oocytes.
Biochim. Biophys. Acta, 2013 Aug , 1828 (1743-53).

25

Zanardi I et al. An optical assay of the transport activity of ClC-7.
Sci Rep, 2013 , 3 (1231).

26

Szewczyk KA et al. Distinctive subdomains in the resorbing surface of osteoclasts.
PLoS ONE, 2013 , 8 (e60285).

27

Pangrazio A et al. A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
Calcif. Tissue Int., 2012 Oct , 91 (250-4).

28

Costa A et al. The Arabidopsis central vacuole as an expression system for intracellular transporters: functional characterization of the Cl-/H+ exchanger CLC-7.
, 2012 May 28 , ().

29

Wang C et al. The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
J. Bone Miner. Metab., 2012 May , 30 (338-48).

30

Wang L et al. ClC-3 is a candidate of the channel proteins mediating acid-activated chloride currents in nasopharyngeal carcinoma cells.
Am. J. Physiol., Cell Physiol., 2012 Jul 1 , 303 (C14-23).

31

Stauber T et al. Cell biology and physiology of CLC chloride channels and transporters.
Compr Physiol, 2012 Jul , 2 (1701-44).

32

Xue Y et al. Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia.
J Craniomaxillofac Surg, 2012 Jul , 40 (416-20).

33

Al-Aama JY et al. A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family.
Clin. Dysmorphol., 2012 Jan , 21 (1-7).

34

Kim HS et al. The inhibitory effect and the molecular mechanism of glabridin on RANKL-induced osteoclastogenesis in RAW264.7 cells.
Int. J. Mol. Med., 2012 Feb , 29 (169-77).

35

Kantaputra PN et al. Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.
Am. J. Med. Genet. A, 2012 Apr , 158A (909-16).

36

Mindell JA Lysosomal acidification mechanisms.
Annu. Rev. Physiol., 2012 , 74 (69-86).

37

Zhang H et al. Characterisation of Cl(-) transporter and channels in experimentally induced myopic chick eyes.
Clin Exp Optom, 2011 Nov , 94 (528-35).

38

Majumdar A et al. Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes.
Mol. Biol. Cell, 2011 May 15 , 22 (1664-76).

39

Rajan I et al. An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.
Vet. Pathol., 2011 May , 48 (663-75).

40

Leisle L et al. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
, 2011 Apr 28 , ().

41

Duncan EL et al. Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
PLoS Genet., 2011 Apr , 7 (e1001372).

42

Stauber T et al. Sorting motifs of the endosomal/lysosomal CLC chloride transporters.
J. Biol. Chem., 2010 Nov 5 , 285 (34537-48).

43

Whyte MP et al. Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.
J. Bone Miner. Res., 2010 Nov , 25 (2515-26).

44

Furthner D et al. Osteopetrosis due to homozygous chloride channel ClCN7 mutation mimicking metabolic disease with haematological and neurological impairment.
Klin Padiatr, 2010 May , 222 (180-3).

45

Steinberg BE et al. A cation counterflux supports lysosomal acidification.
J. Cell Biol., 2010 Jun 28 , 189 (1171-86).

46

Weinert S et al. Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
Science, 2010 Jun 11 , 328 (1401-3).

47

Cao L et al. Chloride channels and transporters in human corneal epithelium.
Exp. Eye Res., 2010 Jun , 90 (771-9).

48

Neagoe I et al. The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
J. Biol. Chem., 2010 Jul 9 , 285 (21689-97).

49

Wartosch L et al. A role for chloride transport in lysosomal protein degradation.
Autophagy, 2010 Jan , 6 (158-9).

50

Pangrazio A et al. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Hum. Mutat., 2010 Jan , 31 (E1071-80).

51

Pressey SN et al. Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.
J. Neuropathol. Exp. Neurol., 2010 Dec , 69 (1228-46).

52

Tian M et al. Chloride channels regulate chondrogenesis in chicken mandibular mesenchymal cells.
Arch. Oral Biol., 2010 Dec , 55 (938-45).

53

Phadke SR et al. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.
Indian J. Med. Res., 2010 Apr , 131 (508-14).

54

Schulz P et al. The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect.
PLoS ONE, 2010 , 5 (e12585).

55

Kajiya H et al. 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.
Pflugers Arch., 2009 Oct , 458 (1049-59).

56

Plans V et al. Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules.
Pflugers Arch., 2009 May , 458 (23-37).

57

Perdu B et al. 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.
Calcif. Tissue Int., 2009 May , 84 (355-60).

58

Zhao Q et al. CLC-7: a potential therapeutic target for the treatment of osteoporosis and neurodegeneration.
Biochem. Biophys. Res. Commun., 2009 Jul 3 , 384 (277-9).

59

Henriksen K et al. Characterization of acid flux in osteoclasts from patients harboring a G215R mutation in ClC-7.
Biochem. Biophys. Res. Commun., 2009 Jan 23 , 378 (804-9).

60

Wartosch L et al. Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7.
FASEB J., 2009 Dec , 23 (4056-68).

61

Besbas N et al. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.
Eur. J. Pediatr., 2009 Dec , 168 (1449-54).

62

Mazzolari E et al. A single-center experience in 20 patients with infantile malignant osteopetrosis.
Am. J. Hematol., 2009 Aug , 84 (473-9).

63

Zhang ZL et al. Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
J. Bone Miner. Metab., 2009 , 27 (444-51).

64

Braun AP Identification of ClC-7 as a major pathway for Cl- movement in lysosomes.
Channels (Austin), 2008 Sep-Oct , 2 (309).

65

Hou J et al. ClC chloride channels in tooth germ and odontoblast-like MDPC-23 cells.
Arch. Oral Biol., 2008 Sep , 53 (874-8).

66

Henriksen K et al. Ion transporters involved in acidification of the resorption lacuna in osteoclasts.
Calcif. Tissue Int., 2008 Sep , 83 (230-42).

67

Nijenhuis T et al. Bone resorption inhibitor alendronate normalizes the reduced bone thickness of TRPV5(-/-) mice.
J. Bone Miner. Res., 2008 Nov , 23 (1815-24).

68

Okamoto F et al. Intracellular ClC-3 chloride channels promote bone resorption in vitro through organelle acidification in mouse osteoclasts.
Am. J. Physiol., Cell Physiol., 2008 Mar , 294 (C693-701).

69

Graves AR et al. The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.
Nature, 2008 Jun 5 , 453 (788-92).

70

Neutzsky-Wulff AV et al. Characterization of the bone phenotype in ClC-7-deficient mice.
Calcif. Tissue Int., 2008 Dec , 83 (425-37).

71

Chu K et al. CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.
Bone, 2008 Dec , 43 (995-8).

72

Ripoll VM et al. Microphthalmia transcription factor regulates the expression of the novel osteoclast factor GPNMB.
Gene, 2008 Apr 30 , 413 (32-41).

73

Nielsen RH et al. Dissolution of the inorganic phase of bone leading to release of calcium regulates osteoclast survival.
Biochem. Biophys. Res. Commun., 2007 Sep 7 , 360 (834-9).

74

Sørensen MG et al. Diphyllin, a novel and naturally potent V-ATPase inhibitor, abrogates acidification of the osteoclastic resorption lacunae and bone resorption.
J. Bone Miner. Res., 2007 Oct , 22 (1640-8).

75

Waguespack SG et al. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation.
J. Clin. Endocrinol. Metab., 2007 Mar , 92 (771-8).

76

Meadows NA et al. The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor.
J. Biol. Chem., 2007 Jan 19 , 282 (1891-904).

77

Jentsch TJ Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.
J. Physiol. (Lond.), 2007 Feb 1 , 578 (633-40).

78

Ignoul S et al. Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains.
PLoS ONE, 2007 , 2 (e474).

79

Lam CW et al. 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.
J. Hum. Genet., 2007 , 52 (98-101).

80

Lange PF et al. ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function.
Nature, 2006 Mar 9 , 440 (220-3).

81

Kornak U et al. Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
J. Clin. Endocrinol. Metab., 2006 Mar , 91 (995-1000).

82

Suzuki T et al. Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers.
J. Cell. Physiol., 2006 Mar , 206 (792-8).

83

Chu K et al. Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties.
J. Bone Miner. Res., 2006 Jul , 21 (1089-97).

84

Henriksen K et al. Degradation of the organic phase of bone by osteoclasts: a secondary role for lysosomal acidification.
J. Bone Miner. Res., 2006 Jan , 21 (58-66).

85

Del Fattore A et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.
J. Med. Genet., 2006 Apr , 43 (315-25).

86

Schaller S et al. The role of chloride channels in osteoclasts: ClC-7 as a target for osteoporosis treatment.
Drug News Perspect., 2005 Oct , 18 (489-95).

87

Pettersson U et al. Polymorphisms of the CLCN7 gene are associated with BMD in women.
J. Bone Miner. Res., 2005 Nov , 20 (1960-7).

88

Kasper D et al. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.
EMBO J., 2005 Mar 9 , 24 (1079-91).

89

Campos-Xavier AB et al. Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations.
Am. J. Med. Genet. A, 2005 Mar 1 , 133A (216-8).

90

Comes N et al. Differential expression of the human chloride channel genes in the trabecular meshwork under stress conditions.
Exp. Eye Res., 2005 Jun , 80 (801-13).

91

Ernest NJ et al. Relative contribution of chloride channels and transporters to regulatory volume decrease in human glioma cells.
Am. J. Physiol., Cell Physiol., 2005 Jun , 288 (C1451-60).

92

Scheel O et al. Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
Nature, 2005 Jul 21 , 436 (424-7).

93

Mummery JL et al. Expression of the chloride channel CLC-K in human airway epithelial cells.
Can. J. Physiol. Pharmacol., 2005 Dec , 83 (1123-8).

94

Henriksen K et al. Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II.
Am. J. Pathol., 2004 May , 164 (1537-45).

95

Parkerson KA et al. Biophysical and pharmacological characterization of hypotonically activated chloride currents in cortical astrocytes.
Glia, 2004 May , 46 (419-36).

96

Alatalo SL et al. Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).
Clin. Chem., 2004 May , 50 (883-90).

97

Schaller S et al. The chloride channel inhibitor NS3736 [corrected] prevents bone resorption in ovariectomized rats without changing bone formation.
J. Bone Miner. Res., 2004 Jul , 19 (1144-53).

98

Blair HC et al. Recent advances in osteoclast biology and pathological bone resorption.
Histol. Histopathol., 2004 Jan , 19 (189-99).

99

Letizia C et al. Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations.
Calcif. Tissue Int., 2004 Jan , 74 (42-6).

100

Davies N et al. Chloride channel gene expression in the rabbit cornea.
Mol. Vis., 2004 Dec 30 , 10 (1028-37).

101

Blair HC et al. In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
J. Bone Miner. Res., 2004 Aug , 19 (1329-38).

102

Frattini A et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
J. Bone Miner. Res., 2003 Oct , 18 (1740-7).

103

Furukawa T [Various functions of ClC-type Cl- channels]
Nippon Yakurigaku Zasshi, 2003 Nov , 122 (375-83).

104

Auzanneau C et al. A Novel voltage-dependent chloride current activated by extracellular acidic pH in cultured rat Sertoli cells.
J. Biol. Chem., 2003 May 23 , 278 (19230-6).

105

Olsen ML et al. Expression of voltage-gated chloride channels in human glioma cells.
J. Neurosci., 2003 Jul 2 , 23 (5572-82).

106

Campos-Xavier AB et al. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
Hum. Genet., 2003 Feb , 112 (186-9).

107

Waguespack SG et al. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.
J. Bone Miner. Res., 2003 Aug , 18 (1513-8).

108

Kulka M et al. Mast cells express chloride channels of the ClC family.
Inflamm. Res., 2002 Sep , 51 (451-6).

109

Diewald L et al. Activation by acidic pH of CLC-7 expressed in oocytes from Xenopus laevis.
Biochem. Biophys. Res. Commun., 2002 Feb 22 , 291 (421-4).

110

Alper SL Genetic diseases of acid-base transporters.
Annu. Rev. Physiol., 2002 , 64 (899-923).

111

Li X et al. Chloride channels and hepatocellular function: prospects for molecular identification.
Annu. Rev. Physiol., 2002 , 64 (609-33).

112

Vandewalle A [Function of the CLC chloride channels and their implication in human pathology]
, 2002 , 23 (113-8).

113

Kida Y et al. Localization of mouse CLC-6 and CLC-7 mRNA and their functional complementation of yeast CLC gene mutant.
Histochem. Cell Biol., 2001 Mar , 115 (189-94).

114

Prince LS et al. KGF alters gene expression in human airway epithelia: potential regulation of the inflammatory response.
Physiol. Genomics, 2001 Jul 17 , 6 (81-9).

115

Kornak U et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Cell, 2001 Jan 26 , 104 (205-15).

116

Cleiren E et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Hum. Mol. Genet., 2001 Dec 1 , 10 (2861-7).

117

Scherer CR et al. Gene expression profiles of CLC chloride channels in animal models with different cardiovascular diseases.
Cell. Physiol. Biochem., 2001 , 11 (321-30).

118

Thakker RV Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
Exp. Nephrol., 2000 Nov-Dec , 8 (351-60).

119

Kornak U et al. Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1).
Biochim. Biophys. Acta, 1999 Oct 6 , 1447 (100-6).

120

Thakker RV The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.
Curr. Opin. Nephrol. Hypertens., 1998 Jul , 7 (385-8).

121

Eggermont J The exon-intron architecture of human chloride channel genes is not conserved.
Biochim. Biophys. Acta, 1998 Apr 29 , 1397 (156-60).

122

Hechenberger M et al. A family of putative chloride channels from Arabidopsis and functional complementation of a yeast strain with a CLC gene disruption.
J. Biol. Chem., 1996 Dec 27 , 271 (33632-8).

123

Brandt S et al. ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.
FEBS Lett., 1995 Dec 11 , 377 (15-20).