A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population
Human Mutation, Volume 2026, Issue 1, 2026.Background Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. Objectives This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care. Methods Published
Nancy S. Younis +12 more
wiley +1 more source
Unraveling antibody-induced structural dynamics in the ADAMTS13 CUB1-2 domains via HDX-MS
Blood Advances: Allosteric regulation of ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type-1 motif, member 13) activity involves an interaction between its spacer (S) and 2 complement C1r/C1s, Uegf and BMP1 (CUB; CUB1-2) domains to keep the enzyme
Quintijn Bonnez +8 more
doaj +1 more source
A patient with SLE-associated thrombotic microangiopathy and non-neutralizing antibodies against ADAMTS13 [PDF]
, 2017 In this case report, we describe for the first time a patient with thrombotic thrombocytopaenic purpura (TTP) accompanying highly active systemic lupus erythematosus (SLE) that was associated with non-neutralizing antibodies against the plasma ...
Ferrari, Silvia +4 more
core
Biocompatibility and antibacterial properties of zirconium nitride coating on titanium abutments: An in vitro study [PDF]
, 2018 Improving soft tissue attachment and reducing bacterial colonization on titanium abutments are key factors for the long-term maintenance of healthy soft and hard peri-implant tissues.
Bressan, Eriberto +7 more
core +2 more sources
Moschcowitz Disease in pediatric. [PDF]
Batna Journal of Medical SciencesHemichorea Moskowitz disease is a rare hematological disorder known to be an autoimmune disease in most patients. Most cases of thrombotic thrombopenic purpura (TTP) are caused by problems with an enzyme or protein in the blood called ADAMTS13.
Samira AGGOUNE, Mohamed Faouzi SEDDIKI
doaj +1 more source
Assembly and Activation of Alternative Complement Components on Endothelial Cell-Anchored Ultra-Large Von Willebrand Factor Links Complement and Hemostasis-Thrombosis [PDF]
, 2013 Background: Vascular endothelial cells (ECs) express and release protein components of the complement pathways, as well as secreting and anchoring ultra-large von Willebrand factor (ULVWF) multimers in long string-like structures that initiate platelet ...
Moake, Joel, Turner, Nancy A.
core +2 more sources
Successful Treatment of Refractory Immune Thrombotic Thrombocytopenic Purpura with Daratumumab
Клиническая онкогематологияImmune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare life-threatening disease manifested by thrombocytopenia, microangiopathic hemolytic anemia, and impaired functions of organs and systems due to the thrombosis of small arteries.
E. E. Klebanova +5 more
doaj +1 more source
The essential role of calcium in ADAMTS13 function
, 2009 Imperial Users ...
Gardner, Michelle Daniela +1 more
core
ABO Blood Groups and Cardiovascular Diseases [PDF]
, 2012 ABO blood groups have been associated with various disease phenotypes, particularly cardiovascular diseases. Cardiovascular diseases are the most common causes of death in developed countries and their prevalence rate is rapidly growing in developing ...
Ciarán J. Mooney +2 more
core +1 more source
La Revue de medecine interneThrombotic Thrombocytopenic Purpura (TTP) is a rare disease characterized by a severe deficiency of ADAMTS13, the specific protease that cleaves von Willebrand factor. The congenital form of TTP (cTTP) results from pathogenic variants of the ADAMTS13 gene.
Joly, Bérangère S. +8 more
openaire +2 more sources