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Scott syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Scott syndrome" returned 1 free, full-text review articles. First 1 results:
Platelets and coagulation in thrombus formation: aberrations in the Scott syndrome.
Last Updated: Aug 17, 2017

Platelets play key roles in thrombosis and hemostasis by forming aggregates and providing a procoagulant surface, at which thrombin is generated and fibrin fibers are formed. Here we present an overview of the different mechanisms how platelets orchestrate coagulation processes in ...

Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome.
Last Updated: Nov 21, 2013

Like all eukaryotic cells, platelets maintain plasma membrane phospholipid asymmetry in normal blood circulation via lipid transporters, which control transbilayer movement. Upon platelet activation, the asymmetric orientation of membrane phospholipids is rapidly disrupted, resulting ...

Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids.
Last Updated: Nov 26, 2016

Normal quescent cells maintain membrane lipid asymmetry by ATP-dependent membrane lipid transporters, which shuttle different phospholipids from one leaflet to the other against their respective concentration gradients. When cells are challenged, membrane lipid asymmetry can be perturbed ...

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1 Free Review Articles 4 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Scott syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Scott syndrome" returned 16 free, full-text research articles. First few results:
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Last Updated: Sep 24, 2020

Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investigation of 10 families (12 individuals) ...

Scott-Taor syndrome.
Last Updated: Feb 05, 2020

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Last Updated: Nov 13, 2018

The X-linked condition "Aarskog-Scott syndrome (AAS)" causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 ...

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16 Free Research Articles 56 Research Articles