Work

OC 75.1 First US Rare Bleeding Disorder Genotype-Phenotype Registry (ATHN 10) Discovers Many Individuals with Both Novel and Multiple Variants using a Customized 30-Gene Next-Generation Sequencing Panel

Year: 2023

Type: article

Abstract: Background: Early-stage vascular calcification (microcalcification) is strongly associated with progression of vascular disease and subsequent myocardial infarction, stroke and death.Although vascular calcification is accepted as independent risk factor for vascular disease, conventional imaging still falls short of early detection of calcification and treatment is currently unavailable.The Gla-domain of vitamin K-dependent coagulation factors could offer a solution to both these challenges.The Gla-domain has calcium ion-binding properties via γ-carboxyglutamic acids (Gla) and was recently shown to interact with ectopic calcium-crystals.For this study we chose the protein S Gla-domain.

Source: Research and Practice in Thrombosis and Haemostasis

DOI: 10.1016/j.rpth.2023.100478

Authors: D. Nugent, S. Williams, C. Ashburner, N. Crook, H. Momoh, M. Recht, M. Chandler, A. Shapiro

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,250

OpenAlex ID: W4388598181

FWCI:

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Related to: 10