Scott syndrome

Common Name(s)

Scott syndrome

Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents ({9:Munnix et al., 2003}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Scott syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Scott syndrome" returned 24 free, full-text research articles on human participants. First 3 results:

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
 

Author(s): Abdul Rezzak Hamzeh, Fatima Saif, Pratibha Nair, Asma Jassim Binjab, Madiha Mohamed, Mahmoud Taleb Al-Ali, Fatma Bastaki

Journal:

 

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 ...

Last Updated: 31 Dec 1969

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Combined Quantification of the Global Proteome, Phosphoproteome, and Proteolytic Cleavage to Characterize Altered Platelet Functions in the Human Scott Syndrome.
 

Author(s): Fiorella A Solari, Nadine J A Mattheij, Julia M Burkhart, Frauke Swieringa, Peter W Collins, Judith M E M Cosemans, Albert Sickmann, Johan W M Heemskerk, René P Zahedi

Journal: Mol. Cell Proteomics. 2016 10;15(10):3154-3169.

 

The Scott syndrome is a very rare and likely underdiagnosed bleeding disorder associated with mutations in the gene encoding anoctamin-6. Platelets from Scott patients are impaired in various Ca-dependent responses, including phosphatidylserine exposure, integrin closure, intracellular ...

Last Updated: 31 Dec 1969

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Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
 

Author(s): Alfredo Orrico, Lucia Galli, Jill Clayton-Smith, Jean-Pierre Fryns

Journal: Eur. J. Hum. Genet.. 2015 Apr;23(4):.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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 on human participants. First 3 results:

Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome.
 

Author(s): T Lhermusier, H Chap, B Payrastre

Journal: J. Thromb. Haemost.. 2011 Oct;9(10):1883-91.

 

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 ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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