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6. Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis. Capo V; Penna S; Merelli I; Barcella M; Scala S; Basso-Ricci L; Draghici E; Palagano E; Zonari E; Desantis G; Uva P; Cusano R; Sergi Sergi L; Crisafulli L; Moshous D; Stepensky P; Drabko K; Kaya Z; Unal E; Gezdirici A; Menna G; Serafini M; Aiuti A; Locatelli SL; Carlo-Stella C; Schulz AS; Ficara F; Sobacchi C; Gentner B; Villa A Haematologica; 2021 Jan; 106(1):74-86. PubMed ID: 31949009 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Establishment and characterization of new osteoclast progenitor cell lines derived from osteopetrotic and wild type mice. Blin-Wakkach C; Breuil V; Quincey D; Bagnis C; Carle GF Bone; 2006 Jul; 39(1):53-60. PubMed ID: 16503212 [TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 12552563 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. Blair HC; Borysenko CW; Villa A; Schlesinger PH; Kalla SE; Yaroslavskiy BB; Garćia-Palacios V; Oakley JI; Orchard PJ J Bone Miner Res; 2004 Aug; 19(8):1329-38. PubMed ID: 15231021 [TBL] [Abstract][Full Text] [Related]
12. Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. Askmyr M; Holmberg J; Flores C; Ehinger M; Hjalt T; Richter J Exp Hematol; 2009 Feb; 37(2):302-8. PubMed ID: 19100677 [TBL] [Abstract][Full Text] [Related]
13. RANKL treatment releases the negative regulation of the poly(ADP-ribose) polymerase-1 on Tcirg1 gene expression during osteoclastogenesis. Beranger GE; Momier D; Rochet N; Quincey D; Guigonis JM; Samson M; Carle GF; Scimeca JC J Bone Miner Res; 2006 Nov; 21(11):1757-69. PubMed ID: 17002555 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Nonablative neonatal bone marrow transplantation rapidly reverses severe murine osteopetrosis despite low-level engraftment and lack of selective expansion of the osteoclastic lineage. Flores C; de Vries TJ; Moscatelli I; Askmyr M; Schoenmaker T; Langenbach GE; Ehinger M; Everts V; Richter J J Bone Miner Res; 2010 Sep; 25(9):2069-77. PubMed ID: 20568230 [TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 21042819 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]