Functional analysis of single amino‐acid mutations in the thrombopoietin‐receptor Mpl underlying congenital amegakaryocytic thrombocytopenia
暂无分享,去创建一个
C. Voermans | F. D. di Summa | M. Tijssen | C. E. van der Schoot | J. Zwaginga | M. de Haas | Marloes R Tijssen | Franca di Summa | Sonja van den Oudenrijn | Jaap Jan Zwaginga | C Ellen van der Schoot | Carlijn Voermans | Masja de Haas | S. van den Oudenrijn
[1] Lesley J. Murray,et al. Thrombopoietin, flt3, and kit ligands together suppress apoptosis of human mobilized CD34+ cells and recruit primitive CD34+ Thy-1+ cells into rapid division. , 1999, Experimental hematology.
[2] N. Saitou,et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. , 2003, Human molecular genetics.
[3] P. Noris,et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations , 2007, Haematologica.
[4] J. Bussel,et al. Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia , 2002, British journal of haematology.
[5] A. Roberts,et al. Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[6] Richard C Trembath,et al. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. , 2004, Human molecular genetics.
[7] K. Ihara,et al. Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. , 2005, Experimental hematology.
[8] M. Abecasis,et al. Congenital amegakaryocytic thrombocytopenia—Report of a new c‐mpl gene missense mutation , 2007, American journal of hematology.
[9] D. Kuter. New thrombopoietic growth factors. , 2007, Blood.
[10] Kindred A. Ritchie,et al. Sustained ex vivo expansion of hematopoietic stem cells mediated by thrombopoietin. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[11] S. Jacobsen,et al. Ability of early acting cytokines to directly promote survival and suppress apoptosis of human primitive CD34+CD38- bone marrow cells with multilineage potential at the single-cell level: key role of thrombopoietin. , 1997, Blood.
[12] W S Alexander,et al. Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietic receptor c-Mpl. , 1996, Blood.
[13] L. Bolund,et al. Protein misfolding and degradation in genetic diseases , 1999, Human mutation.
[14] K. Kaushansky. Thrombopoietin: the primary regulator of platelet production. , 1995, Blood.
[15] K. Kaushansky,et al. The molecular mechanisms that control thrombopoiesis. , 2005, The Journal of clinical investigation.
[16] M. Ballmaier,et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. , 2001, Blood.
[17] M. Eguchi,et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[18] L. Vitale,et al. Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT) , 2000, Human Genetics.
[19] Andrew G. Hall,et al. Novel mutations in a child with congenital amegakaryocytic thrombocytopenia , 2006, British Journal of Haematology.
[20] C. Folman,et al. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia , 2000, British journal of haematology.
[21] L. Rangell,et al. Normal platelets and megakaryocytes are produced in vivo in the absence of thrombopoietin. , 1997, Blood.
[22] M. Tsuchiya,et al. A novel therapeutic approach for thrombocytopenia by minibody agonist of the thrombopoietin receptor. , 2005, Blood.
[23] M. Souyri. Mpl: from an acute myeloproliferative virus to the isolation of the long sought thrombopoietin. , 1998, Seminars in hematology.
[24] W. Vainchenker,et al. Oligodeoxynucleotides antisense to the proto-oncogene c-mpl specifically inhibit in vitro megakaryocytopoiesis. , 1993, Blood.
[25] M. Ballmaier,et al. Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients , 2005, British journal of haematology.
[26] M. Ballmaier,et al. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease , 2006, Human mutation.