Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.80
Abstract: Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers. At present, the somatic events triggering leukemic transformation appear heterogeneous and profiles of leukemia… read more here.
Keywords: stat pathway; runx1; jak stat; variants within ... See more keywords
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns
Sign Up to like & getrecommendations! Published in 2022 at "Genome Research"
DOI: 10.1101/gr.276069.121
Abstract: More than 90% of genetic variants are rare in most modern sequencing studies, such as the Alzheimer's Disease Sequencing Project (ADSP) whole-exome sequencing (WES) data. Furthermore, 54% of the rare variants in ADSP WES are… read more here.
Keywords: variants within; within protein; missense; spatial distribution ... See more keywords
Genetic Variants Within MTORC1 Genes Predict Gastric Cancer Prognosis in Chinese Populations
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cancer"
DOI: 10.7150/jca.23566
Abstract: Objective: Mammalian target of rapamycin complex 1 (mTORC1) plays an important role in maintaining proper cellular functions in gastric cancer (GC). Previous studies demonstrated genetic variants within mTORC1 genes were associated with GC risk. However,… read more here.
Keywords: within mtorc1; prognosis; genetic variants; variants within ... See more keywords