BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

393 related articles for article (PubMed ID: 10888887)

  • 1. 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. PubMed ID: 10888887
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis.
    Zirngibl RA; Wang A; Yao Y; Manolson MF; Krueger J; Dupuis L; Mendoza-Londono R; Voronov I
    J Cell Biochem; 2019 Oct; 120(10):17180-17193. PubMed ID: 31111556
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 15300850
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 24535816
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 10(17):1767-73. PubMed ID: 11532986
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.
    Kornak U; Schulz A; Friedrich W; Uhlhaas S; Kremens B; Voit T; Hasan C; Bode U; Jentsch TJ; Kubisch C
    Hum Mol Genet; 2000 Aug; 9(13):2059-63. PubMed ID: 10942435
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 23907031
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 19259722
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 22(1):3-9. PubMed ID: 12687885
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive Osteopetrosis.
    Chen W; Twaroski K; Eide C; Riddle MJ; Orchard PJ; Tolar J
    J Bone Joint Surg Am; 2019 Nov; 101(21):1939-1947. PubMed ID: 31567691
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.
    Zhang XY; He JW; Fu WZ; Wang C; Zhang ZL
    Acta Pharmacol Sin; 2017 Nov; 38(11):1456-1465. PubMed ID: 28816234
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 11856654
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy.
    Thudium CS; Moscatelli I; Löfvall H; Kertész Z; Montano C; Bjurström CF; Karsdal MA; Schulz A; Richter J; Henriksen K
    Calcif Tissue Int; 2016 Dec; 99(6):638-648. PubMed ID: 27541021
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Malignant Infantile Osteopetrosis.
    Gillani S; Abbas Z
    J Ayub Med Coll Abbottabad; 2017; 29(2):350-352. PubMed ID: 28718264
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
    Palagano E; Blair HC; Pangrazio A; Tourkova I; Strina D; Angius A; Cuccuru G; Oppo M; Uva P; Van Hul W; Boudin E; Superti-Furga A; Faletra F; Nocerino A; Ferrari MC; Grappiolo G; Monari M; Montanelli A; Vezzoni P; Villa A; Sobacchi C
    J Bone Miner Res; 2015 Oct; 30(10):1814-21. PubMed ID: 25829125
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
    Taranta A; Migliaccio S; Recchia I; Caniglia M; Luciani M; De Rossi G; Dionisi-Vici C; Pinto RM; Francalanci P; Boldrini R; Lanino E; Dini G; Morreale G; Ralston SH; Villa A; Vezzoni P; Del Principe D; Cassiani F; Palumbo G; Teti A
    Am J Pathol; 2003 Jan; 162(1):57-68. PubMed ID: 12507890
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
    Ajmal M; Mir A; Wahid S; Khor CC; Foo JN; Siddiqi S; Kauser M; Malik SA; Nasir M
    BMC Med Genet; 2017 Dec; 18(1):148. PubMed ID: 29237407
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 22231430
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene.
    Capo V; Abinun M; Villa A
    Bone; 2022 Dec; 165():116519. PubMed ID: 35981697
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification.
    Li YP; Chen W; Liang Y; Li E; Stashenko P
    Nat Genet; 1999 Dec; 23(4):447-51. PubMed ID: 10581033
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.