Functional Genomics In A Cohort Of Fh Mutation Negative Patients
Sign Up to like & getrecommendations! Published in 2019 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2019.06.269
Abstract: With thanks to the EAS for support in the form of a Young Investigator Fellowship. Rafael Graca acknowledges financial support from FCT (PD/BD/131427/2017). read more here.
Keywords: cohort mutation; mutation negative; negative patients; genomics cohort ... See more keywords
Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-02806-x
Abstract: The tumor suppressor gene adenomatous polyposis coli (APC) is the initiating mutation in approximately 80% of all colorectal cancers (CRC), underscoring the importance of aberrant regulation of intracellular WNT signaling in CRC development. Recent studies… read more here.
Keywords: mutation negative; microsatellite stable; colorectal cancers; mutation ... See more keywords
Avapritinib for the treatment of KIT mutation–negative systemic mastocytosis
Sign Up to like & getrecommendations! Published in 2022 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2022.2123661
Abstract: Abstract Systemic mastocytosis results from the spread of abnormal mast cells in different parts of the body, with variable clinical presentation. It is difficult to diagnose and to determine the appropriate therapy regimen. We present… read more here.
Keywords: mastocytosis; mutation negative; systemic mastocytosis; kit mutation ... See more keywords
Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvz015
Abstract: Background Familial hypercholesterolemia (FH) confers a very high risk of premature cardiovascular disease and is commonly caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) and… read more here.
Keywords: familial hypercholesterolemia; north american; mutation negative; cohort ... See more keywords
Folliculin mutation-negative trichodiscomas in a patient with multiple endocine neoplasia type I syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Dermatology online journal"
DOI: 10.5070/d3238036007
Abstract: Mycosis fungoides (MF) is the most common cutaneous T cell lymphoma that involves the oral mucosal. The manifestation of lesions within the oral cavity generally correlates with a poor prognosis. Management of MF includes skin… read more here.
Keywords: folliculin mutation; mutation negative; trichodiscomas patient; patient multiple ... See more keywords