Varaico: Literature-Extracted Genetic Variants

Gene:PTGS1
Variant:p.V481I
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PTGS1

NM_000962.4:p.V481I

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.

Ben-Yosef N et al.

Gastroenterology Report, 2021

PTGS1 gene variations associated with bleeding and platelet dysfunction.

Palma-Barqueros V et al.

Platelets, 2021

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.

Chan MV et al.

Haematologica, 2021

A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.

Palma-Barqueros V et al.

American Journal of Hematology, 2021

Deep sequencing of prostaglandin-endoperoxide synthase (PTGE) genes reveals genetic susceptibility for cross-reactive hypersensitivity to NSAID.

García-Martín E et al.

British Journal of Pharmacology, 2021

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

Genetic polymorphisms of HO-1 and COX-1 are associated with aspirin resistance defined by light transmittance aggregation in Chinese Han patients.

Li XL et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2013

Decreased cyclooxygenase inhibition by aspirin in polymorphic variants of human prostaglandin H synthase-1.

Liu W et al.

Pharmacogenetics and Genomics, 2012

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients.

Czerska K et al.

Journal of Applied Genetics, 2010

Cyclooxygenase polymorphisms in gastric and colorectal carcinogenesis: are conclusive results available?

Pereira C et al.

European Journal of Gastroenterology & Hepatology, 2009

Identification and functional characterization of polymorphisms in human cyclooxygenase-1 (PTGS1).

Lee CR et al.

Pharmacogenetics and Genomics, 2007

Cyclooxygenase-1 gene polymorphisms in patients with different asthma phenotypes and atopy.

Shi J et al.

The European Respiratory Journal, 2005

Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk.

Goodman JE et al.

Carcinogenesis, 2004

Genetic variation in cyclooxygenase 1: effects on response to aspirin.

Halushka MK et al.

Clinical Pharmacology and Therapeutics, 2003

Mutations within the cyclooxygenase-1 gene in aspirin non-responders with recurrence of stroke.

Hillarp A et al.

Thrombosis Research, 2003

[Cyclooxigenase-1 gene polymorphism and aspirin resistance].

Bondar' TN et al.

Tsitologiia I Genetika, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."