We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow.
Vasily E. Ramensky+21 more
doaj +1 more source
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. [PDF]
Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants ...
Abraham, Jean+99 more
core
FoxO1 signaling in B cell malignancies and its therapeutic targeting
FoxO1 has context‐specific tumor suppressor or oncogenic character in myeloid and B cell malignancies. This includes tumor‐promoting properties such as stemness maintenance and DNA damage tolerance in acute leukemias, or regulation of cell proliferation and survival, or migration in mature B cell malignancies.
Krystof Hlavac+3 more
wiley +1 more source
Population Genetics of Rare Variants and Complex Diseases [PDF]
Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high throughput genome sequencing technologies is a central challenge faced by human geneticists today.
Hernandez, Ryan D.+3 more
core +2 more sources
Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley +1 more source
Phenotypic complexity, measurement bias, and poor phenotypic resolution contribute to the missing heritability problem in genetic association studies. [PDF]
BackgroundThe variance explained by genetic variants as identified in (genome-wide) genetic association studies is typically small compared to family-based heritability estimates. Explanations of this 'missing heritability' have been mainly genetic, such
Sophie van der Sluis+3 more
doaj +1 more source
Molecular Genetic Influences on Normative and Problematic Alcohol Use in a Population-Based Sample of College Students [PDF]
Background: Genetic factors impact alcohol use behaviors and these factors may become increasingly evident during emerging adulthood. Examination of the effects of individual variants as well as aggregate genetic variation can clarify mechanisms ...
Adkins, Amy+16 more
core +2 more sources
Making tau amyloid models in vitro: a crucial and underestimated challenge
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley +1 more source
Recent advances in genotyping methodologies have allowed genome-wide association studies (GWAS) to accurately identify genetic variants that associate with common or pathological complex traits. Although most GWAS have focused on associations with single
Iksoo Huh, Min-Seok Kwon, Taesung Park
doaj +1 more source
Genome-wide association study identifies 48 common genetic variants associated with handedness
Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders.
Gabriel Cuellar Partida+117 more
semanticscholar +1 more source