Results 91 to 100 of about 15,453 (247)

Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency

open access: yes, 1993
A protein S gene polymorphism, detectable by restriction analysis of amplified exonic sequences, was investigated in a family with members affected by protein S deficiency, deep vein thrombosis and ictus.
LEGNANI C   +7 more
core  

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

open access: yesFEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil   +4 more
wiley   +1 more source

Cardiac transplantation in a patient with protein S deficiency

open access: yesThe Annals of Thoracic Surgery, 1999
Cardiac transplantation was successfully performed in a patient with end-stage ischemic cardiomyopathy and hereditary protein S deficiency who had undergone two previous coronary artery bypass graft procedures. Routine intraoperative heparinization and reversal with protamine was undertaken, and the antifibrinolytic agent aprotinin was infused ...
T B, Spanier   +4 more
openaire   +2 more sources

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

open access: yes, 2005
PROSIT enrolled 79 protein S (PS) deficient families and found 38 genetic alterations in 53 probands. Of these, 23 mutations were selected for expression in vitro, to evaluate their role as possible causative mutations.
REZENDE SM   +14 more
core  

Genotype and Laboratory and Clinical Phenotypes of Protein S Deficiency

open access: yes, 2012
The diagnosis of thrombophilia caused by protein S deficiency remains difficult. From 2005 to 2010, we documented 135 patients with suspected hereditary protein S deficiency for whom mutational analysis of the PROS 1 gene had been performed by direct ...
Marschall, Christoph   +15 more
core   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

open access: yesFEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Central retinal vein prethrombosis as an initial manifestation of protein S deficiency

open access: yesSão Paulo Medical Journal
CONTEXT: Retinal vein thrombosis is most common in old people, and is often associated with systemic vascular disease. One of its rare systemic causes is protein S deficiency.
Paulo de Tarso Ponte Pierre-Filho   +3 more
doaj   +1 more source

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

open access: yesFEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai   +4 more
wiley   +1 more source

Protein S Deficiency and an Adult Case with Moyamoya Syndrome that Presented with Primary Intraventricular Haemorrhage

open access: yesBalkan Medical Journal, 2014
Background: Moyamoya syndrome associated with protein S deficiency is rarely encountered and is usually reported in paediatric cases with cerebral ischaemia.
Betül Çevik   +3 more
doaj   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

open access: yesFEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto   +3 more
wiley   +1 more source

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