Results 41 to 50 of about 5,529,499 (207)

Congenital thrombotic thrombocytopenic purpura due to a novel homozygous mutation in the ADAMTS13 gene: a case report

Hematology & Transfusion International Journal, 2022
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening form of thrombotic microangiopathy (TMA) characterized by recurrent episodes of thrombocytopenia and microangiopathic hemolytic anemia (MAHA), sometimes associated with ischemic damage of ...
Housam Yousef Almadani, Mohammed Abdulbasit Almelibar I, Mohamed I Elhefnawy, Banan Alaied, Talal H Albishri, Samy Marouf, Ebtihaj Jamil Abdulqadim, Antoine Amaury Lachaud, Rita Dittmer, Pierre Alain Menoud   +9 more
semanticscholar   +1 more source

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

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

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

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  

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

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

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

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