Results 21 to 30 of about 8,735 (203)

Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches. [PDF]

PLoS ONE, 2012
Synonymous variations, which are defined as codon substitutions that do not change the encoded amino acid, were previously thought to have no effect on the properties of the synthesized protein(s).
Nathan C Edwards, Zachary A Hing, Avital Perry, Adam Blaisdell, David B Kopelman, Robert Fathke, William Plum, Jordan Newell, Courtni E Allen, Geetha S, Aaron Shapiro, Chinyere Okunji, Idit Kosti, Noam Shomron, Vahan Grigoryan, Teresa M Przytycka, Zuben E Sauna, Raheleh Salari, Yael Mandel-Gutfreund, Anton A Komar, Chava Kimchi-Sarfaty   +20 more
doaj   +1 more source

Von Willebrand factor, ADAMTS13 and mortality in dialysis patients

BMC Nephrology, 2021
Background Von Willebrand Factor (VWF) multimers are cleaved into smaller and less coagulant forms by the metalloprotease ADAMTS13. The aim of this study was to investigate the association between VWF and ADAMTS13 and mortality in dialysis patients ...
Gurbey Ocak, Mark Roest, Marianne C. Verhaar, Maarten B. Rookmaaker, Peter J. Blankestijn, Willem Jan W. Bos, Rob Fijnheer, Nathalie C. Péquériaux, Friedo W. Dekker   +8 more
doaj   +1 more source

How I treat thrombotic thrombocytopenic purpura and atypical haemolytic uraemic syndrome [PDF]

, 2014
Thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS) are acute, rare life-threatening thrombotic microangiopathies that require rapid diagnosis and treatment.
Goodship, T, Scully, M
core   +1 more source

An IAP retrotransposon in the mouse ADAMTS13 gene creates ADAMTS13 variant proteins that are less effective in cleaving von Willebrand factor multimers

Blood, 2007
AbstractSevere deficiency of ADAMTS13, a von Willebrand factor (VWF)–cleaving metalloprotease, causes thrombotic thrombocytopenic purpura. When analyzed with VWF multimers, but not with an abbreviated VWF peptide (VWF73) as the substrate, the plasma ADAMTS13 activity levels of mouse strains segregated into a high and a low group that differed by ...
Wenhua, Zhou, Eric E, Bouhassira, Han-Mou, Tsai   +2 more
openaire   +3 more sources

Quantitative Systems Pharmacology Modeling of Platelet Responses to Recombinant ADAMTS13 in Patients With Congenital Thrombotic Thrombocytopenic Purpura. [PDF]

CPT Pharmacometrics Syst Pharmacol
ABSTRACT Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra‐rare, life‐threatening thrombotic microangiopathy caused by a severe inherited deficiency of ADAMTS13, a von Willebrand factor (VWF) cleaving enzyme. Inadequate clinical endpoint data often make it challenging to statistically power clinical trials in ultra‐rare diseases ...
McBride C, Jiang J, Zhang Z, Tolsma J, Patwari P, Mellgård B, Vakilynejad M, Bhattacharya I, Zhu AZX.   +8 more
europepmc   +2 more sources

Pathogenicity of anti-ADAMTS13 autoantibodies in acquired thrombotic thrombocytopenic purpura. [PDF]

, 2015
BACKGROUND: Acquired thrombotic thrombocytopenic purpura (TTP) is an autoimmune disease in which anti-ADAMTS13 autoantibodies cause severe enzyme deficiency.
Crawley, JT, De Groot, R, Scully, MA, Thomas, MR   +3 more
core   +2 more sources

Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13 [PDF]

Clinical Kidney Journal, 2018
A 3-month-old male infant developed an extremely severe episode of atypical hemolytic uremic syndrome (aHUS) associated with partial deficiencies of full-length complement factor H (FH; ∼15% of infant normal) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) (39% of normal) and autoantibodies reactive with
Mini Michael, Nancy Turner, Ewa Elenberg, Linda G Shaffer, Jun Teruya, Mazen Arar, Shiu-Ki Hui, Richard J Smith, Joel Moake   +8 more
openaire   +3 more sources

Effect of plasma exchange on COVID-19 associated excess of von Willebrand factor and inflammation in critically ill patients

Scientific Reports, 2022
Ubiquitous microthromboses in the pulmonary vasculature play a crucial role in the pathogenesis of COVID-19 associated acute respiratory distress syndrome (ARDS). Excess of Willebrand factor (vWf) with intravascular multimer formation was identified as a
Felix S. Seibert, Arturo Blazquez-Navarro, Bodo Hölzer, Adrian A. N. Doevelaar, Christian Nusshag, Uta Merle, Christian Morath, Panagiota Zgoura, Rita Dittmer, Sonja Schneppenheim, Jochen Wilhelm, Nina Babel, Ulrich Budde, Timm H. Westhoff   +13 more
doaj   +1 more source

Increased plasma von Willebrand factor antigen levels but normal von Willebrand factor cleaving protease (ADAMTS13) activity in preeclampsia. [PDF]

, 2009
The activity of ADAMTS13, the von Willebrand factor (VWF) cleaving protease is low in several conditions, including HELLP (haemolysis, elevated liver enzymes, and low platelet count) syndrome.
Bõze, Tamás, Cervenak, László, Derzsy, Zoltán, Gombos, Tímea, Hársfalvi, Jolán, Makó, Veronika, Molvarec, Attila, Prohászka, Zoltán, Rigó, János, Udvardy, Miklós László   +9 more
core   +1 more source

Three disintegrin-like domain mutations of ADAMTS13： functional deficiency and association with thrombosis [PDF]

Zhenduanxue lilun yu shijian
Objective To analyze the genotypic and phenotypic characteristics of four thrombotic patients carrying heterozygous mutations in the disintegrin-like domain of ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13), and to ...
LIN Liya, WU Xi, MAO Yinqi, CHEN Guangming, WU Wenman, DAI Jing, WANG Xuefeng, DING Qiulan
doaj   +1 more source