Results 31 to 40 of about 591,252 (334)
Clinical and Genetic Aspects of CADASIL [PDF]
Frontiers in Aging Neuroscience, 2020 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia.
Mao Mukai +4 more
openaire +4 more sources
Genetics and genomic medicine in Sri Lanka
Molecular Genetics & Genomic Medicine, 2019 The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena +1 more
doaj +1 more source
A weighted U statistic for association analysis considering genetic heterogeneity [PDF]
, 2015 Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and structural variations predisposing to human diseases, the impact of heterogeneity in genetic studies of complex ...
arxiv +1 more source
FoxO1 signaling in B cell malignancies and its therapeutic targeting
FEBS Letters, EarlyView.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
Efficient inference for genetic association studies with multiple outcomes [PDF]
Biostatistics, 2017, 2016 Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single clinical outcome on many genetic variants one by one, but there is an increasing demand for joint analysis of many ...
arxiv +1 more source
FEBS Letters, EarlyView.Metabolic dysfunction‐associated steatotic liver disease (MASLD) affects nearly one‐third of the global population and poses a significant risk of progression to cirrhosis or liver cancer. Here, we discuss the roles of hepatic dendritic cell subtypes in MASLD, highlighting their distinct contributions to disease initiation and progression, and their ...
Camilla Klaimi +3 more
wiley +1 more source
A Partially Functional Linear Modeling Framework for Integrating Genetic, Imaging, and Clinical Data [PDF]
arXiv, 2022 This paper is motivated by the joint analysis of genetic, imaging, and clinical (GIC) data collected in the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. We propose a regression framework based on partially functional linear regression models to map high-dimensional GIC-related pathways for Alzheimer's Disease (AD). We develop a joint model
arxiv
Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia
FEBS Letters, EarlyView.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
iScience, 2023 Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie +7 more
doaj
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families
Frontiers in Genetics, 2019 Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum +22 more
doaj +1 more source