187 related articles for article (PubMed ID: 25829125)
21. 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. PubMed ID: 24108692
[TBL] [Abstract][Full Text] [Related]
22. CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.
Yang Y; Ye W; Guo J; Zhao L; Tu M; Zheng Y; Li L
Mol Med Rep; 2019 Jan; 19(1):595-600. PubMed ID: 30431110
[TBL] [Abstract][Full Text] [Related]
23. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Bliznetz EA; Tverskaya SM; Zinchenko RA; Abrukova AV; Savaskina EN; Nikulin MV; Kirillov AG; Ginter EK; Polyakov AV
Eur J Hum Genet; 2009 May; 17(5):664-72. PubMed ID: 19172990
[TBL] [Abstract][Full Text] [Related]
24. Outlining the Clinical Profile of
El-Kamah GY; Mehrez MI; Taher MB; El-Bassyouni HT; Gaber KR; Amr KS
Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107657
[No Abstract] [Full Text] [Related]
25. Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
Lanzi G; Ferraro RM; Masneri S; Piovani G; Barisani C; Sobacchi C; Villa A; Vezzoni P; Giliani S
Stem Cell Res; 2020 Jan; 42():101660. PubMed ID: 31794943
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 23412864
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
Pangrazio A; Caldana ME; Sobacchi C; Panaroni C; Susani L; Mihci E; Cavaliere ML; Giliani S; Villa A; Frattini A
J Bone Miner Res; 2009 Jan; 24(1):162-7. PubMed ID: 18715141
[TBL] [Abstract][Full Text] [Related]
29. Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis.
Abbaszadegan MR; Modarresi A; Khadivi-Zand F; Velayati A
Saudi Med J; 2008 Oct; 29(10):1494-6. PubMed ID: 18946580
[TBL] [Abstract][Full Text] [Related]
30. The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
Shamriz O; Shaag A; Yaacov B; NaserEddin A; Weintraub M; Elpeleg O; Stepensky P
Clin Genet; 2017 Jul; 92(1):80-85. PubMed ID: 27187610
[TBL] [Abstract][Full Text] [Related]
31. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Bonapace G; Moricca MT; Talarico V; Graziano F; Pensabene L; Miniero R
Ital J Pediatr; 2014 Nov; 40():90. PubMed ID: 25410126
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. 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]
36. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.
Pangrazio A; Poliani PL; Megarbane A; Lefranc G; Lanino E; Di Rocco M; Rucci F; Lucchini F; Ravanini M; Facchetti F; Abinun M; Vezzoni P; Villa A; Frattini A
J Bone Miner Res; 2006 Jul; 21(7):1098-105. PubMed ID: 16813530
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
Liu C; Ajmal M; Akram Z; Ghafoor T; Farhan M; Shafique S; Wahid S; Bano S; Xiao J; Satti HS; Zhang F; Khan TN
BMC Med Genomics; 2021 Nov; 14(1):264. PubMed ID: 34753502
[TBL] [Abstract][Full Text] [Related]
39. [Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].
Hernández-Martínez C; Guzmán-Martínez MN; Scheffler-Mendoza S; Espinosa-Padilla SE; Sobacchi C; Blancas-Galicia L
Rev Alerg Mex; 2018; 65(1):108-116. PubMed ID: 29723947
[TBL] [Abstract][Full Text] [Related]
40. Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.
Souraty N; Noun P; Djambas-Khayat C; Chouery E; Pangrazio A; Villa A; Lefranc G; Frattini A; Mégarbané A
Eur J Med Genet; 2007; 50(3):188-99. PubMed ID: 17400532
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]