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Results: 20

1.

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

Sobacchi C, Pangrazio A, Lopez AG, Gomez DP, Caldana ME, Susani L, Vezzoni P, Villa A.

J Bone Miner Res. 2014 Jul;29(7):1646-50. doi: 10.1002/jbmr.2203.

PMID:
24535816
[PubMed - in process]
Free PMC Article
2.

Common gating of both CLC transporter subunits underlies voltage-dependent activation of the 2Cl-/1H+ exchanger ClC-7/Ostm1.

Ludwig CF, Ullrich F, Leisle L, Stauber T, Jentsch TJ.

J Biol Chem. 2013 Oct 4;288(40):28611-9. doi: 10.1074/jbc.M113.509364. Epub 2013 Aug 27.

PMID:
23983121
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series.

Rashid BM, Rashid NG, Schulz A, Lahr G, Nore BF.

J Med Case Rep. 2013 Jan 9;7:7. doi: 10.1186/1752-1947-7-7.

PMID:
23302420
[PubMed]
Free PMC Article
4.

Molecular biology of bone remodelling.

Rucci N.

Clin Cases Miner Bone Metab. 2008 Jan;5(1):49-56.

PMID:
22460846
[PubMed]
Free PMC Article
5.

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.

Pangrazio A, Boudin E, Piters E, Damante G, Lo Iacono N, D'Elia AV, Vezzoni P, Van Hul W, Villa A, Sobacchi C.

Bone. 2011 Sep;49(3):568-71. doi: 10.1016/j.bone.2011.05.006. Epub 2011 May 11.

PMID:
21600326
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.

Leisle L, Ludwig CF, Wagner FA, Jentsch TJ, Stauber T.

EMBO J. 2011 Jun 1;30(11):2140-52. doi: 10.1038/emboj.2011.137. Epub 2011 Apr 28.

PMID:
21527911
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle.

Feng L, Campbell EB, Hsiung Y, MacKinnon R.

Science. 2010 Oct 29;330(6004):635-41. doi: 10.1126/science.1195230. Epub 2010 Sep 30.

PMID:
20929736
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

Schulz P, Werner J, Stauber T, Henriksen K, Fendler K.

PLoS One. 2010 Sep 7;5(9):e12585. doi: 10.1371/journal.pone.0012585.

PMID:
20830208
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Alterations in osteoclast function and phenotype induced by different inhibitors of bone resorption--implications for osteoclast quality.

Neutzsky-Wulff AV, Sørensen MG, Kocijancic D, Leeming DJ, Dziegiel MH, Karsdal MA, Henriksen K.

BMC Musculoskelet Disord. 2010 Jun 1;11:109. doi: 10.1186/1471-2474-11-109.

PMID:
20515459
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Molecular biology of bone remodeling: implications for new therapeutic targets for osteoporosis.

Gallagher JC, Sai AJ.

Maturitas. 2010 Apr;65(4):301-7. doi: 10.1016/j.maturitas.2010.01.002. Epub 2010 Jan 29. Review.

PMID:
20116187
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Chloride channels of intracellular membranes.

Edwards JC, Kahl CR.

FEBS Lett. 2010 May 17;584(10):2102-11. doi: 10.1016/j.febslet.2010.01.037. Epub 2010 Jan 26. Review.

PMID:
20100480
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Role of protein-tyrosine phosphatases in regulation of osteoclastic activity.

Sheng MH, Lau KH.

Cell Mol Life Sci. 2009 Jun;66(11-12):1946-61. doi: 10.1007/s00018-009-8811-5.

PMID:
19189046
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.

Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV.

Eur J Hum Genet. 2009 May;17(5):664-72. doi: 10.1038/ejhg.2008.234. Epub 2009 Jan 28.

PMID:
19172990
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.

Villa A, Pangrazio A, Caldana E, Guerrini M, Vezzoni P, Frattini A, Sobacchi C.

Cytotechnology. 2008 Sep;58(1):57-62. doi: 10.1007/s10616-008-9165-9. Epub 2008 Sep 30.

PMID:
19002772
[PubMed]
Free PMC Article
15.

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

Chu K, Koller DL, Ichikawa S, Snyder R, Curry L, Lai D, Austin A, Xuei X, Edenberg HJ, Hui SL, Foroud TM, Peacock M, Econs MJ.

Bone. 2008 Dec;43(6):995-8. doi: 10.1016/j.bone.2008.07.249. Epub 2008 Aug 8.

PMID:
18755304
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosis.

Birmingham P, McHale KA.

Clin Orthop Relat Res. 2008 Aug;466(8):2002-8. doi: 10.1007/s11999-008-0256-x. Epub 2008 Apr 23. Review.

PMID:
18431613
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hübner CA, Jentsch TJ.

Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9. Epub 2006 Sep 1.

PMID:
16950870
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.

Frattini A, Blair HC, Sacco MG, Cerisoli F, Faggioli F, Catò EM, Pangrazio A, Musio A, Rucci F, Sobacchi C, Sharrow AC, Kalla SE, Bruzzone MG, Colombo R, Magli MC, Vezzoni P, Villa A.

Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14629-34. Epub 2005 Sep 29.

PMID:
16195375
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, Fortunati D, Ballanti P, Iacobini M, Luciani M, Devito R, Pinto R, Caniglia M, Lanino E, Messina C, Cesaro S, Letizia C, Bianchini G, Fryssira H, Grabowski P, Shaw N, Bishop N, Hughes D, Kapur RP, Datta HK, Taranta A, Fornari R, Migliaccio S, Teti A.

J Med Genet. 2006 Apr;43(4):315-25. Epub 2005 Aug 23.

PMID:
16118345
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

Kasper D, Planells-Cases R, Fuhrmann JC, Scheel O, Zeitz O, Ruether K, Schmitt A, Poët M, Steinfeld R, Schweizer M, Kornak U, Jentsch TJ.

EMBO J. 2005 Mar 9;24(5):1079-91. Epub 2005 Feb 10.

PMID:
15706348
[PubMed - indexed for MEDLINE]
Free PMC Article

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