BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 25829125)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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. PubMed ID: 24989235
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 24535484
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
    Liang H; Li N; Yao RE; Yu T; Ding L; Chen J; Wang J
    Mol Genet Genomic Med; 2021 Nov; 9(11):e1815. PubMed ID: 34545712
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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. PubMed ID: 20424301
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.
    Luong LH; Nguyen HD; Trung TN; Minh TMT; Khanh TL; Son TP; Tran TD; Nguyen TT
    Am J Med Genet A; 2022 Oct; 188(10):3096-3099. PubMed ID: 35915932
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
    Wu P; Cai Z; Jiang WH; Lu G; Wu PQ; Xie ZW; Peng JZ; Chen C; Qi JY; Xu LZ; Shen KL; Zeng HS; Yin GQ
    BMC Pediatr; 2021 Jul; 21(1):297. PubMed ID: 34210262
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
    Zeng B; Li R; Hu Y; Hu B; Zhao Q; Liu H; Yuan P; Wang Y
    Gene; 2016 Jan; 576(1 Pt 1):176-81. PubMed ID: 26477479
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.
    Koçak G; Güzel BN; Mıhçı E; Küpesiz OA; Yalçın K; Manguoğlu AE
    Gene; 2019 Jun; 702():83-88. PubMed ID: 30898715
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
    Palagano E; Susani L; Menale C; Ramenghi U; Berger M; Uva P; Oppo M; Vezzoni P; Villa A; Sobacchi C
    J Bone Miner Res; 2017 Jan; 32(1):99-105. PubMed ID: 27468155
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 14584882
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
    Jodeh W; Katz AJ; Hart M; Warden SJ; Niziolek P; Alam I; Ing S; Polgreen LE; Imel EA; Econs MJ
    J Clin Endocrinol Metab; 2024 Jun; 109(7):1726-1732. PubMed ID: 38261998
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.
    Howaldt A; Nampoothiri S; Quell LM; Ozden A; Fischer-Zirnsak B; Collet C; de Vernejoul MC; Doneray H; Kayserili H; Kornak U
    Bone; 2019 Mar; 120():495-503. PubMed ID: 30537558
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.