Results 31 to 40 of about 8,735 (203)

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

Von Willebrand Factor and ADAMTS13 in COVID-19 and Beyond: A Question of Balance

European Medical Journal Nephrology, 2021
von Willebrand factor (VWF) is a large, adhesive, multimeric protein involved in haemostasis. The larger the size (or number of VWF multimers), the greater the functionality of the protein. A deficiency or defect in VWF can lead to von Willebrand disease
Emmanuel J Favaloro, Brandon Michael Henry, Giuseppe Lippi   +2 more
doaj  

Generation and validation of small ADAMTS13 fragments for epitope mapping of anti‐ADAMTS13 autoantibodies in immune‐mediated thrombotic thrombocytopenic purpura

Research and Practice in Thrombosis and Haemostasis, 2020
Background In immune‐mediated thrombotic thrombocytopenic purpura (iTTP), patients develop an immune response against the multidomain enzyme ADAMTS13.
Kadri Kangro, Elien Roose, An‐Sofie Schelpe, Edwige Tellier, Gilles Kaplanski, Jan Voorberg, Simon F. De Meyer, Andres Männik, Karen Vanhoorelbeke   +8 more
doaj   +1 more source

Clinical surveillance of thrombotic microangiopathies in Scotland, 2003-2005 [PDF]

, 2007
The prevalence, incidence and outcomes of haemolytic uraemic syndrome (HUS) and thrombotic thrombocytopaenic purpura (TTP) are not well established in adults or children from prospective studies. We sought to identify both outcomes and current management
D. YOUNG, Hosler, K. G. J. POLLOCK, Marques, Sadler, T. J. BEATTIE, Tarr, Van Dyck, W. T. A. TODD   +8 more
core   +2 more sources

Thirty five novel nsSNPs may effect onADAMTS13protein leading to Thrombotic thrombocytopenic purpura (TTP) using bioinformatics approach [PDF]

, 2019
ABSTRACTBackgroundGenetic polymorphisms in theADAMTS13gene are associated with thrombotic thrombocytopenic purpura or TTP, a life-threatening microangiopathic disorder. This study aims to predict the possible pathogenic SNPs of this gene and their impact on the protein structure and function using insilico methods.MethodsSNPs retrieved from the NCBI ...
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

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   +8 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

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