Results 351 to 360 of about 447,619 (420)

Clonal Hematopoiesis and Thrombosis

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Clonal hematopoiesis (CH) has been the focus of many research efforts in the last years and has emerged as a risk modifier for cardiovascular disease morbidity and mortality. While substantial evidence has accumulated regarding its impact on arterial system diseases, the connection with venous thrombosis has only recently been explored.
Cornelia Englisch, Cihan Ay
wiley   +1 more source

Targeting Arachidonic Acid Metabolism Enhances Immunotherapy Efficacy in ARID1A-Deficient Colorectal Cancer. [PDF]

open access: yesCancer Res
Cui L   +15 more
europepmc   +1 more source

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young   +9 more
wiley   +1 more source

Formative research to optimize pre-eclampsia risk-screening and prevention (PEARLS): study protocol. [PDF]

open access: yesReprod Health
Minckas N   +16 more
europepmc   +1 more source

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé   +5 more
wiley   +1 more source

Polygenic risk, aspirin, and primary prevention of coronary artery disease. [PDF]

open access: yesEur Heart J Cardiovasc Pharmacother
Yu C   +13 more
europepmc   +1 more source

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