Results 91 to 100 of about 376,982 (341)

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

open access: yesClinical Genetics, EarlyView.
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova   +3 more
wiley   +1 more source

Systemic lupus erythematosus caused acquired hemophilia B without evidence of factor IX inhibitors

open access: yes
Rheumatology &Autoimmunity, EarlyView.
Lifang Wang   +3 more
wiley   +1 more source

Production and Functional Verification of 8‐Gene (GGTA1, CMAH, β4GalNT2, hCD46, hCD55, hCD59, hTBM, hCD39)‐Edited Donor Pigs for Xenotransplantation

open access: yesCell Proliferation, EarlyView.
Schematic representation of generation of 8‐gene‐edited cloned pigs and their verification by pig to non‐human primate kidney xenotransplantation. ABSTRACT Gene‐edited (GE) pig‐to‐human xenotransplantation continues to make breakthroughs, but which kind of gene combination is suitable for organ‐specific transplantation remains unclear.
Jiaoxiang Wang   +23 more
wiley   +1 more source

Anti-phospholipid antibodies : case report and review of the literature [PDF]

open access: yes, 1989
There is currently considerable interest in antibodies directed against phospholipids. Several clinical associations with these antibodies have been defined, the strongest ones being with thrombosis and recurrent foetal loss.
Aquilina, Sandra, Mallia, Carmel
core  

Impact of a Thinner Snare Wire With Optimal Electrosurgical Unit Settings on the Risk of Delayed Bleeding After Endoscopic Papillectomy: A Propensity Score‐Matched Analysis (With Video)

open access: yesDigestive Endoscopy, EarlyView.
ABSTRACT Objectives The indications for endoscopic papillectomy (EP) have expanded. However, post‐procedural adverse events remain high. We performed ex vivo and clinical studies to determine the usefulness of a thinner snare wire (TSW) for preventing delayed bleeding after EP.
Kenjiro Yamamoto   +13 more
wiley   +1 more source

Cyclosporine treatment of acquired hemophilia due to factor VIII antibodies [PDF]

open access: yes, 2000
Acquired hemophilia, caused by autoantibodies against coagulation factor VIII, is usually treated with steroids, cyclophosphamide, intravenous gammaglobulins and sporadically other drugs.
Baele, Gaston   +2 more
core  

Higher plasma dicarbonyl levels are associated with liver fibrosis in obese individuals

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Introduction Methylglyoxal (MGO) is a very reactive compound that modifies proteins, forming advanced glycation end products (AGEs) and activating inflammatory pathways. Elevated MGO levels have been linked to various diseases, including type 2 diabetes and atherosclerosis. However, the role of MGO and other glycating agents in the progression
Oluwatomisono I. Akinrimisi   +12 more
wiley   +1 more source

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