Results 41 to 50 of about 8,376 (205)

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

ADAMTS13 activity and antigen during therapy and follow-up of patients with idiopathic thrombotic thrombocytopenic purpura: correlation with clinical outcome

Haematologica, 2011
Background The assay for ADAMTS13 activity helps clinicians to confirm the clinical diagnosis of idiopathic thrombotic thrombocytopenic purpura. The clinical value of testing for the antigen level of ADAMTS13 protein is, however, less clear.Design and ...
Shangbin Yang, Ming Jin, Shili Lin, Spero Cataland, Haifeng Wu   +4 more
doaj   +1 more source

Performance related factors are the main determinants of the von Willebrand factor response to exhaustive physical exercise [PDF]

, 2014
Background: Physical stress triggers the endothelium to release von Willebrand Factor (VWF) from the Weibel Palade bodies. Since VWF is a risk factor for arterial thrombosis, it is of great interest to discover determinants of VWF response to physical ...
A Casonato, AM Keightley, AO Spiel, BC Creighton, CH Widberg, DD Wagner, DJ Pinsky, EM Bladbjerg, Frank W. G. Leebeek, G Lippi, G Lippi, G Rock, GY Lip, H Tanaka, I Martinelli, IM Lee, J Myers, J Ribeiro, J Stakiw, Janine E. van Loon, JB Hansen, JC Souto, JE Sadler, JE van Loon, JL Ribeiro, JP Giblin, JR Day, L Gallinaro, LA Sporn, M de Lange, M Small, MC van Schie, MD Delp, Michelle A. H. Sonneveld, MJ Hollestelle, Moniek P. M. de Maat, MP Reilly, MS El-Sayed, MS El-Sayed, N Hickson, NL Smith, NL Smith, O Wu, PH Whincup, PJ Harvey, RA Claus, RA Reiter, RG Wieberdink, S Kanaji, S Lethagen, Stephan F. E. Praet, T Mayadas, Toshiyuki Miyata, V Daidone, YY Zhang   +54 more
core   +7 more sources

Antibodies against the CUB1-2 domains of ADAMTS13 in a patient with benign monoclonal gammopathy: no causal relationship

Haematologica, 2007
We present a patient with a history of benign monoclonal gammopathy, who developed thrombotic thrombocytopenic purpura (TTP), initially presenting as bilateral serous retinal detachment.
Niels P Riksen, Brenda M Luken, Ina S Klasen, Jan Voorberg, Niels Crama, Marcel van Deuren   +5 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

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

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

Degradation of two novel congenital TTP ADAMTS13 mutants by the cell proteasome prevents ADAMTS13 secretion [PDF]

, 2016
INTRODUCTION: Over 150 mutations have been identified in the ADAMTS13 gene in patients with congenital thrombotic thrombocytopenic purpura (TTP). The majority of these (86%), lead to reduced (
Garagiola, I, Machin, S, Mackie, I, Peyvandi, F, Underwood, M   +4 more
core   +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

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   +3 more sources