Results 111 to 120 of about 77,059 (283)
Factor V Leiden mutation and Japanese NIDDM [PDF]
Diabetologia, 1997 M, Odawara, K, Yamashita
openaire +2 more sources
Developmental Medicine &Child Neurology, EarlyView.The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda +46 more
wiley +1 more source
Factor V Leiden and Prothrombin Mutations in South of Iran
Armaghane Danesh Bimonthly Journal, 2007 : Introduction & Objective: Factor V Leiden and prothrombin mutation are not common but they are involved in pediatric thrombosis. The aim of this study was to evaluate the frequency of factor V Leiden & prohtrombin mutation in healthy population of ...
M Karimi, AR Panahande, AR Afrasiabi
doaj
Bone Marrow Pathology in Cold Agglutinin‐Mediated Autoimmune Hemolytic Anemia: A Study of 56 Cases
European Journal of Haematology, EarlyView.ABSTRACT Cold agglutinin disease (CAD) is a rare form of autoimmune hemolytic anemia (AIHA). CAD occurs in the context of a small clonal B‐cell lymphoproliferation restricted to blood and/or bone marrow (BM), without overt or extramedullary lymphoma. The WHO‐HAEM5 introduced a description of the CAD‐associated lymphoproliferative disorder (CAD‐LPD) in ...
Anne‐Marie L. Becking +6 more
wiley +1 more source
Thrombophilia: Factor V Leiden Mutation as a Genetic Background in Patients with Retinal Vein Occlusion [PDF]
, 2015 Aim: This study was designed to detect the association between factor V Leiden mutation and retinal vein occlusion.Methods: A total 60 adult newly diagnosed retinal vein occlusion patients ( branch or central types) with or without systemic disorders ...
Rahem, Rahem Mahdy +1 more
core +1 more source
The FEBS Journal, EarlyView.NOTCH signalling is indispensable for tissue homeostasis and, consequently, corruption of its normal function promotes numerous diseases, including cancer. However, the development of targeted therapies has been hampered by inefficacy and overt toxicity. Here, we show that NOTCH receptor dimerization is necessary for receptor transactivation, which has
Xinxin Liu +9 more
wiley +1 more source
Intrinsic specificity of a ‘core’ TIP60 acetyltransferase complex in Drosophila
The FEBS Journal, EarlyView.The intrinsic substrate selectivity of the Drosophila TIP60‐core acetyltransferase was determined using synthetic nucleosome arrays. Targeted mass spectrometry revealed site‐specific acetylation of histones H2A, H2A.V, and H4, uncovering distinct acetylation rates and patterns across individual lysines.
Silke Krause +5 more
wiley +1 more source
Clinical molecular genetics in the UK c.1975-c.2000 [PDF]
, 2014 seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core
[Factor V Leiden mutation and pregnancy complications].
Medicina (Kaunas, Lithuania), 2003 It has become evident in the past few years, that a large number of obstetric pathologies is actually associated with congenital thrombophilias. The most common disorder is Factor V Leiden. Many authors relate this factor with preeclampsia, intrauterine fetal growth retardation, spontaneous abortion, unexplained cases of still birth, placental ...
Vytautas, Abraitis +2 more
openaire +1 more source
The FEBS Journal, EarlyView.Computational modelling and in vitro liver cell experiments indicate that medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency causes an accumulation of (especially medium‐chain) acyl‐CoAs at the cost of free CoA (CoASH). A substantial decrease in CoASH impairs flux through many pathways essential for energy homeostasis.
Ligia Akemi Kiyuna +17 more
wiley +1 more source