Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
dc.contributor.author | Levy, G. G. | en_US |
dc.contributor.author | Nichols, William C. | en_US |
dc.contributor.author | Lian, E. C. | en_US |
dc.contributor.author | Foroud, Tatiana | en_US |
dc.contributor.author | McClintick, J. N. | en_US |
dc.contributor.author | McGee, B. M. | en_US |
dc.contributor.author | Yang, Angela Y. | en_US |
dc.contributor.author | Siemieniak, David R. | en_US |
dc.contributor.author | Stark, K. R. | en_US |
dc.contributor.author | Gruppo, R. | en_US |
dc.contributor.author | Sarode, R. | en_US |
dc.contributor.author | Shurin, S. B. | en_US |
dc.contributor.author | Chandrasekaran, V. | en_US |
dc.contributor.author | Stabler, S. P. | en_US |
dc.contributor.author | Sabio, H. | en_US |
dc.contributor.author | Bouhassira, E. E. | en_US |
dc.contributor.author | Upshaw, J. D. | en_US |
dc.contributor.author | Ginsburg, David W. | en_US |
dc.contributor.author | Tsai, H. M. | en_US |
dc.date.accessioned | 2009-06-01T17:25:36Z | |
dc.date.available | 2009-06-01T17:25:36Z | |
dc.date.issued | 2001-10-04 | en_US |
dc.identifier.citation | Levy, GG; Nichols, WC; Lian, EC; Foroud, T; McClintick, JN; McGee, BM; Yang, AY; Siemieniak, DR; Stark, KR; Gruppo, R; Sarode, R; Shurin, SB; Chandrasekaran, V; Stabler, SP; Sabio, H; Bouhassira, EE; Upshaw, JD; Ginsburg, D; Tsai, HM. (2001) "Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura." Nature 413(6855): 488-494. <http://hdl.handle.net/2027.42/62592> | en_US |
dc.identifier.issn | 0028-0836 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/62592 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=11586351&dopt=citation | en_US |
dc.description.abstract | Thrombotic thrombocytopenic purpura (TTP) is a life-threatening systemic illness of abrupt onset and unknown cause. Proteolysis of the blood-clotting protein von Willebrand factor (VWF) observed in normal plasma is decreased in TTP patients. However, the identity of the responsible protease and its role in the pathophysiology of TTP remain unknown. We performed genome-wide linkage analysis in four pedigrees of humans with congenital TTP and mapped the responsible genetic locus to chromosome 9q34. A predicted gene in the identifed interval corresponds to a segment of a much larger transcript, identifying a new member of the ADAMTS family of zinc metalloproteinase genes (ADAMTS13). Analysis of patients' genomic DNA identified 12 mutations in the ADAMTS13 gene, accounting for 14 of the 15 disease alleles studied. We show that deficiency of ADAMTS13 is the molecular mechanism responsible for TTP, and suggest that physiologic proteolysis of VWF and/or other ADAMTS13 substrates is required for normal vascular homeostasis. | en_US |
dc.format.extent | 311651 bytes | |
dc.format.extent | 2489 bytes | |
dc.format.mimetype | application/octet-stream | |
dc.format.mimetype | text/plain | |
dc.publisher | Macmillan Publishers Ltd. | en_US |
dc.source | Nature | en_US |
dc.title | Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura | en_US |
dc.type | Article | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Univ Michigan, Med Ctr, Howard Hughes Med Inst, Dept Internal Med, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationum | Univ Michigan, Med Ctr, Howard Hughes Med Inst, Dept Human Genet, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationum | Univ Michigan, Med Ctr, Mol & Cellular Biol Program, Ann Arbor, MI 48109 USA | en_US |
dc.contributor.affiliationother | Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA | en_US |
dc.contributor.affiliationother | Univ Miami, Hemophilia & Thrombosis Ctr, Miami, FL 33136 USA | en_US |
dc.contributor.affiliationother | Univ Miami, Sylvester Canc Ctr, Miami, FL 33136 USA | en_US |
dc.contributor.affiliationother | Vet Affairs Med Ctr, Miami, FL 33136 USA | en_US |
dc.contributor.affiliationother | Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA | en_US |
dc.contributor.affiliationother | Childrens Hosp, Med Ctr, Div Hematol Oncol, Cincinnati, OH 45229 USA | en_US |
dc.contributor.affiliationother | Univ Texas, SW Med Sch, Blood Bank, Dallas, TX 75390 USA | en_US |
dc.contributor.affiliationother | Rainbow Babies & Childrens Hosp, Dept Pediat, Cleveland, OH 44106 USA | en_US |
dc.contributor.affiliationother | Case Western Reserve Univ, Sch Med, Cleveland, OH 44106 USA | en_US |
dc.contributor.affiliationother | Long Isl Jewish Med Ctr, Blood Bank, New Hyde Pk, NY 11040 USA | en_US |
dc.contributor.affiliationother | Albert Einstein Coll Med, New Hyde Pk, NY 11040 USA | en_US |
dc.contributor.affiliationother | Univ Colorado, Hlth Sci Ctr, Dept Med, Denver, CO 80262 USA | en_US |
dc.contributor.affiliationother | Med Coll Georgia, Augusta, GA 30912 USA | en_US |
dc.contributor.affiliationother | Albert Einstein Coll Med, Dept Med Hematol, Bronx, NY 10461 USA | en_US |
dc.contributor.affiliationother | Albert Einstein Coll Med, Dept Cell Biol, Bronx, NY 10461 USA | en_US |
dc.contributor.affiliationother | Memphis Canc Ctr, Memphis, TN 38119 USA | en_US |
dc.contributor.affiliationother | Montefiore Med Ctr, Div Hematol, Bronx, NY 10467 USA | en_US |
dc.contributor.affiliationother | Albert Einstein Coll Med, Bronx, NY 10467 USA | en_US |
dc.identifier.pmid | 11586351 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/62592/1/413488a0.pdf | |
dc.identifier.doi | http://dx.doi.org/10.1038/35097008 | en_US |
dc.identifier.source | Nature | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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