Articles with "functional variant" as a keyword



Functional variant rs9344 at 11q13.3 regulates CCND1 expression in multiple myeloma with t(11;14)

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Published in 2024 at "Leukemia"

DOI: 10.1038/s41375-024-02363-y

Abstract: Multiple myeloma (MM) is a plasma cell (PC) malignancy characterized by cytogenetic abnormalities, such as t(11;14)(q13;q32), resulting in CCND1 overexpression. The rs9344 G allele within CCND1 is the most significant susceptibility allele for t(11;14). Sequencing… read more here.

Keywords: multiple myeloma; variant rs9344; ccnd1 expression; functional variant ... See more keywords

Functional Variant Discovery Identifies a Novel Genetic Link Between SPRY2, Wood Smoke, and Asthma.

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Published in 2025 at "American journal of respiratory cell and molecular biology"

DOI: 10.1165/rcmb.2024-0587oc

Abstract: As a consequence of climate change and land use policies, there has been a historic rise in wildfire smoke across the United States and the world. While the deleterious effects of wildfire smoke and associated… read more here.

Keywords: variant discovery; functional variant; smoke; wildfire smoke ... See more keywords

A functional variant rs912304 for late-onset T1D risk contributes to islet dysfunction by regulating proinflammatory cytokine-responsive gene STXBP6 expression

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Published in 2024 at "BMC Medicine"

DOI: 10.1186/s12916-024-03583-w

Abstract: Our previous genome‑wide association studies (GWAS) have suggested rs912304 in 14q12 as a suggestive risk variant for type 1 diabetes (T1D). However, the association between this risk region and T1D subgroups and related clinical risk… read more here.

Keywords: rs912304; risk; t1d; functional variant ... See more keywords