TCIRG1base
   Variation registry for  Autosomal recessive osteopetrosis (arOP)


TCIRG1base mutation publications

[2010] [2008] [2003] [2002] [2000] [1998] [ ]

Search PubMed latest citations for TCIRG1 mutations

    2010

  • 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(): 508-14 [PubMed abstract].

    2008

  • 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(10): 1494-6 [PubMed abstract].

    2003

  • 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(2): 151-7 [PubMed abstract].

    2002

  • 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(2): 436-9 [PubMed abstract].

    2000

  • 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(3): 343-6 [PubMed abstract].

  • 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(13): 2059-63 [PubMed abstract].

    1998

  • Hematopoietic stem cell transplantation for infantile osteopetrosis.
    Eapen M, Davies SM, Ramsay NK, Orchard PJ
    Bone Marrow Transplant 1998(10): 941-6 [PubMed abstract].

  • 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 (3): 188-99 [PubMed abstract].