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Results: 1 to 20 of 118

Similar articles for PubMed (Select 15111300)

1.

Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II.

Henriksen K, Gram J, Schaller S, Dahl BH, Dziegiel MH, Bollerslev J, Karsdal MA.

Am J Pathol. 2004 May;164(5):1537-45.

2.

TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and Resorption.

Witwicka H, Jia H, Kutikov A, Reyes-Gutierrez P, Li X, Odgren PR.

PLoS One. 2015 May 19;10(5):e0127537. doi: 10.1371/journal.pone.0127537. eCollection 2015.

3.

[Genetic analysis of a novel mutation resulting in autosomal dominant osteopetrosis II].

Li X, Su N, Li C, Yang J, Du X, Chen L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):612-4. doi: 10.3760/cma.j.issn.1003-9406.2014.01.016. Chinese.

PMID:
25297593
4.

Autosomal Dominant Osteopetrosis Type II.

Ozkan AK, Doruk P, Adam M, Celik ZY, Leblebici B.

J Back Musculoskelet Rehabil. 2015;28(1):197-200.

PMID:
24898439
5.

[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation].

Janer Subías E, de Arriba Muñoz A, García Iñiguez JP, Ferrer Lozano M, Sanchez Del Pozo J, Labarta Aizpun JI.

An Pediatr (Barc). 2015 Jan;82(1):e35-8. doi: 10.1016/j.anpedi.2014.03.014. Epub 2014 Jun 2. Spanish.

6.

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions.

Weinert S, Jabs S, Hohensee S, Chan WL, Kornak U, Jentsch TJ.

EMBO Rep. 2014 Jul;15(7):784-91. doi: 10.15252/embr.201438553. Epub 2014 May 12.

7.

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, Huang R, Chen H, Wu S, Shen Y, Fu Q, Chen F.

Mol Med Rep. 2014 Apr;9(4):1191-6. doi: 10.3892/mmr.2014.1955. Epub 2014 Feb 17.

PMID:
24535484
8.

Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.

Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC.

Lab Invest. 2014 Mar;94(3):275-85. doi: 10.1038/labinvest.2013.140. Epub 2013 Dec 16.

9.

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Pangrazio A, Puddu A, Oppo M, Valentini M, Zammataro L, Vellodi A, Gener B, Llano-Rivas I, Raza J, Atta I, Vezzoni P, Superti-Furga A, Villa A, Sobacchi C.

Bone. 2014 Feb;59:122-6. doi: 10.1016/j.bone.2013.11.014. Epub 2013 Nov 20.

10.

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models.

Alam I, Gray AK, Chu K, Ichikawa S, Mohammad KS, Capannolo M, Capulli M, Maurizi A, Muraca M, Teti A, Econs MJ, Del Fattore A.

Bone. 2014 Feb;59:66-75. doi: 10.1016/j.bone.2013.10.021. Epub 2013 Nov 1.

11.

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.

Sartelet A, Stauber T, Coppieters W, Ludwig CF, Fasquelle C, Druet T, Zhang Z, Ahariz N, Cambisano N, Jentsch TJ, Charlier C.

Dis Model Mech. 2014 Jan;7(1):119-28. doi: 10.1242/dmm.012500. Epub 2013 Oct 23.

12.

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.

Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M.

J Bone Miner Res. 2014 Apr;29(4):982-91. doi: 10.1002/jbmr.2100.

PMID:
24108692
13.

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.

Supanchart C, Wartosch L, Schlack C, Kühnisch J, Felsenberg D, Fuhrmann JC, de Vernejoul MC, Jentsch TJ, Kornak U.

Bone. 2014 Jan;58:92-102. doi: 10.1016/j.bone.2013.09.022. Epub 2013 Oct 5.

PMID:
24103576
14.

Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.

Zheng H, Zhang Z, He JW, Fu WZ, Wang C, Zhang ZL.

Joint Bone Spine. 2014 Mar;81(2):188-9. doi: 10.1016/j.jbspin.2013.06.014. Epub 2013 Aug 13. No abstract available.

PMID:
23953223
15.

The R740S mutation in the V-ATPase a3 subunit results in osteoclast apoptosis and defective early-stage autophagy.

Ochotny N, Voronov I, Owen C, Aubin JE, Manolson MF.

J Cell Biochem. 2013 Dec;114(12):2823-33. doi: 10.1002/jcb.24630.

PMID:
23908015
16.

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.

Moscatelli I, Thudium CS, Flores C, Schulz A, Askmyr M, Gudmann NS, Andersen NM, Porras O, Karsdal MA, Villa A, Fasth A, Henriksen K, Richter J.

Bone. 2013 Nov;57(1):1-9. doi: 10.1016/j.bone.2013.07.026. Epub 2013 Jul 29.

PMID:
23907031
17.

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH.

Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23. Review.

PMID:
23877423
18.

Autosomal dominant osteopetrosis revisited: lessons from recent studies.

Bollerslev J, Henriksen K, Nielsen MF, Brixen K, Van Hul W.

Eur J Endocrinol. 2013 Jul 13;169(2):R39-57. doi: 10.1530/EJE-13-0136. Print 2013 Aug. Review.

19.

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.

20.

Monocytes from patients with osteoarthritis display increased osteoclastogenesis and bone resorption: the In Vitro Osteoclast Differentiation in Arthritis study.

Durand M, Komarova SV, Bhargava A, Trebec-Reynolds DP, Li K, Fiorino C, Maria O, Nabavi N, Manolson MF, Harrison RE, Dixon SJ, Sims SM, Mizianty MJ, Kurgan L, Haroun S, Boire G, de Fatima Lucena-Fernandes M, de Brum-Fernandes AJ.

Arthritis Rheum. 2013 Jan;65(1):148-58. doi: 10.1002/art.37722.

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