Results 41 to 50 of about 8,844 (195)

Thirty five novel nsSNPs may effect on ADAMTS13 protein leading to Thrombotic thrombocytopenic purpura (TTP) using bioinformatics approach [PDF]

, 2019
ABSTRACT Background Genetic polymorphisms in the ADAMTS13 gene are associated with thrombotic thrombocytopenic purpura or TTP, a life-threatening microangiopathic disorder.
Abdelhameed, Tebyan A., Ahmed, Arwa I., Mustafa, Mujahed I., Eltayeb, Amel N., Abdelrhman, Fatima A., Ahmed, Amal B., Ahmed, Najla B., Khadir, Hiba Y., Hassan, Adla M., Mohamed, Huda K., Osman, Soada A., Elhag, Mustafa, Hassan, Mohamed A.   +12 more
openaire   +1 more source

The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura

Haematologica, 2009
The inherited deficiency of ADAMTS13 is usually associated with severe forms of thrombotic thrombocytopenic purpura. Among the mutations identified in the ADAMTS13 gene, none have been described on the TSP1-6 repeat domain.
Roberta Palla, Silvia Lavoretano, Rossana Lombardi, Isabella Garagiola, Mehran Karimi, Abdolreza Afrasiabi, Mani Ramzi, Raimondo De Cristofaro, Flora Peyvandi   +8 more
doaj   +1 more source

Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene

Frontiers in Pediatrics, 2020
Hereditary thrombotic thrombocytopenic purpura (TTP) is caused by ADAMTS13 mutations with autosomal recessive inheritance. It typically presents during childhood and is frequently misdiagnosed as immune thrombocytopenia.
Yi-ling Dai, Yi-ling Dai, Xue Tang, Xue Tang, Hong-bo Chen, Hong-bo Chen, Qiu-yu Peng, Qiu-yu Peng, Xia Guo, Xia Guo, Ju Gao, Ju Gao   +11 more
doaj   +1 more source

Factor XI/ADAMTS13 complexes are quantitatively insignificant in human plasma [PDF]

, 2007
Reportedly, complexes between factor XI and ADAMTS13 are detected with a commercial ADAMTS13/FXI ELISA kit in plasma and are decreased in thrombotic thrombocytopenic purpura (TTP).
Anderson, Patricia J, Feys, Hendrik B, Gailani, David, Gao, Weiqiang, Majerus, Elaine M, Sadler, J. Evan, Vanhoorelbeke, Karen   +6 more
core   +2 more sources

Von Willebrand factor and ADAMTS13 activity in relation to risk of dementia [PDF]

, 2018
Low ADAMTS13 activity is associated with an increased risk of cardiovascular disease, which is generally attributed to its proteolytic effects on Von Willebrand factor (VWF). Cardiovascular health is an important determinant of cognitive decline, but the
Boender, J. (Johan), Franco, O.H. (Oscar), Ikram, M.A. (Arfan), Ikram, M.K. (Kamran), Koudstaal, P.J. (Peter), Leebeek, F.W.G. (Frank), Maat, M.P.M. (Moniek) de, Sonneveld, M.A.H. (Michelle), Vries, P.S. (Paul) de, Wolters, F.J. (Frank)   +9 more
core   +1 more source

Preserved Expression of mRNA Coding von Willebrand Factor-Cleaving Protease ADAMTS13 by Selenite and Activated Protein C

Molecular Medicine, 2015
In sepsis, the severity-dependent decrease of von Willebrand factor (VWF)-inactivating protease, a disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAMTS13), results in platelet aggregation and consumption, leading to sepsis-associated thrombotic microangiopathy (TMA) and organ failure.
Michael L, Ekaney, Clemens L, Bockmeyer, Maik, Sossdorf, Philipp A, Reuken, Florian, Conradi, Tobias, Schuerholz, Markus F, Blaess, Scott L, Friedman, Wolfgang, Lösche, Michael, Bauer, Ralf A, Claus   +10 more
openaire   +2 more sources

ADAMTS13 activity as a novel risk factor for incident type 2 diabetes mellitus: a population-based cohort study [PDF]

, 2016
Aims/hypothesis: ADAMTS13 is a protease that breaks down von Willebrand factor (VWF) multimers into smaller, less active particles. VWF has been associated with an increased risk of incident type 2 diabetes mellitus.
Dehghan, A. (Abbas), Franco, O.H. (Oscar), Herpt, T.W. (Thijs) van, Hoek, M. (Mandy) van, Hofman, A. (Albert), Ikram, M.A. (Arfan), Leebeek, F.W.G. (Frank), Ligthart, S. (Symen), Maat, M.P.M. (Moniek) de, Sijbrands, E.J.G. (Eric), Vries, P.S. (Paul) de   +10 more
core   +4 more sources

The Intriguing Relationships of von Willebrand Factor, ADAMTS13 and Cardiac Disease

Journal of Cardiovascular Development and Disease, 2021
von Willebrand factor (VWF) is an adhesive protein involved in primary hemostasis and facilitates platelet adhesion to sites of vascular injury, thereby promoting thrombus formation. VWF exists in plasma as multimers of increasing size, with the largest (
Benjamin Reardon, Leonardo Pasalic, Emmanuel J. Favaloro   +2 more
doaj   +1 more source

Thrombotic microangiopathies: thrombotic thrombocytopenic purpura / hemolytic uremic syndrome [PDF]

, 2010
Thrombotic microangiopathies (TMAs) are pathological conditions characterized by generalized microvascular occlusion by platelet thrombi, thrombocytopenia, and microangiopathic hemolytic anemia.
Mastroianni Kirsztajn, Gianna, Polito, Maria Goretti   +1 more
core   +2 more sources

Thrombotic microangiopathy and associated renal disorders [PDF]

, 2012
Thrombotic microangiopathy (TMA) is a pathological process involving thrombocytopenia, microangiopathic haemolytic anaemia and microvascular occlusion.
Barbour, T, Cohney, S, Hughes, P, Johnson, S   +3 more
core   +1 more source