Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 94

1.

A novel TCIRG1 gene mutation leads to severe osteopetrosis with altered content of monocytes/macrophages in several organs.

Gheorghe G, Galambos C, Jain S, Krishnamurti L, Jaffe R.

Pediatr Dev Pathol. 2012 Mar-Apr;15(2):156-9. doi: 10.2350/11-05-1032-CR.1. Epub 2012 Jan 26.

PMID:
22280207
2.

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

Bruder E, Stallmach T, Peier K, Superti-Furga A, Vezzoni P.

Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):3-9.

PMID:
12687885
3.

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, Pagani F.

Hum Mutat. 2004 Sep;24(3):225-35.

PMID:
15300850
4.

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.

5.

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.

Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY.

Clin Genet. 2015 Jul;88(1):74-9. doi: 10.1111/cge.12448. Epub 2014 Jul 31.

PMID:
24989235
6.

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.

7.

Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis.

Michigami T, Kageyama T, Satomura K, Shima M, Yamaoka K, Nakayama M, Ozono K.

Bone. 2002 Feb;30(2):436-9.

PMID:
11856654
8.

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.

Yuan P, Yue Z, Sun L, Huang W, Hu B, Yang Z, Hu Y, Xiao H, Shi H, Zhou Q, Wang Y.

J Bone Miner Metab. 2011 Mar;29(2):251-6. doi: 10.1007/s00774-010-0228-6. Epub 2010 Nov 2.

PMID:
21042819
9.

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.

Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A.

J Bone Miner Res. 2003 Oct;18(10):1740-7.

10.

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.

Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A.

Nat Genet. 2000 Jul;25(3):343-6.

PMID:
10888887
11.

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Phadke SR, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U.

Indian J Med Res. 2010 Apr;131:508-14.

12.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A.

Hum Mol Genet. 2001 Aug 15;10(17):1767-73.

PMID:
11532986
13.

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF.

Hum Mutat. 2003 Feb;21(2):151-7.

PMID:
12552563
14.

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
15.

A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation.

Kuroyanagi Y, Kawasaki H, Noda Y, Ohmachi T, Sekiya S, Yoshimura K, Ohe C, Michigami T, Ozono K, Kaneko K.

Tohoku J Exp Med. 2014;234(4):309-12.

16.

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

Pangrazio A, Caldana ME, Lo Iacono N, Mantero S, Vezzoni P, Villa A, Sobacchi C.

Osteoporos Int. 2012 Nov;23(11):2713-8. doi: 10.1007/s00198-011-1878-5. Epub 2012 Jan 10. Erratum in: Osteoporos Int. 2012 Nov;23(11):2719. Iacono, N L [corrected to Lo Iacono, N].

PMID:
22231430
17.

Human osteopetroses and the osteoclast V-H+-ATPase enzyme system.

Ogbureke KU, Zhao Q, Li YP.

Front Biosci. 2005 Sep 1;10:2940-54. Review.

PMID:
15970548
18.

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.

Perdu B, Odgren PR, Van Wesenbeeck L, Jennes K, Mackay CC, Van Hul W.

Calcif Tissue Int. 2009 May;84(5):355-60. doi: 10.1007/s00223-009-9229-7. Epub 2009 Mar 4.

19.

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
20.

A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.

Wada K, Harada D, Michigami T, Tachikawa K, Nakano Y, Kashiwagi H, Yamashita S, Sano T, Seino Y.

J Pediatr Endocrinol Metab. 2013;26(5-6):575-7. doi: 10.1515/jpem-2013-0007.

PMID:
23412864

Supplemental Content

Support Center