Results 151 to 160 of about 4,615,445 (390)
The functional genomics laboratory: functional validation of genetic variants
Journal of Inherited Metabolic Disease, 2018 Currently, one of the main challenges in human molecular genetics is the interpretation of rare genetic variants of unknown clinical significance. A conclusive diagnosis is of importance for the patient to obtain certainty about the cause of the disease,
R. Rodenburg
semanticscholar +1 more source
TRAF2 binds to TIFA via a novel motif and contributes to its autophagic degradation
FEBS Letters, EarlyView.TRAF family members couple receptor signalling complexes to downstream outputs, but how they interact with these complexes is not always clear. Here, we show that during ADP‐heptose signalling, TRAF2 binding to TIFA requires two short sequence motifs in the C‐terminal tail of TIFA, which are distinct from the TRAF6 binding motif.
Tom Snelling +4 more
wiley +1 more source
KCNK17 genetic variants in ischemic stroke
Atherosclerosis, 2010 Genetic factors contribute to the development of ischemic stroke (IS). In order to identify susceptibility variants, we analyzed single nucleotide polymorphisms (SNPs) that had been previously linked to stroke in a genome-wide association study.We analyzed 12 SNPs in a White population comprising IS patients and healthy controls.
Marta Rubiera +13 more
openaire +4 more sources
FEBS Letters, EarlyView.Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu +17 more
wiley +1 more source
FEBS Letters, EarlyView.Three‐dimensional (3D) biological systems have become key tools in lymphoma research, offering reliable in vitro and ex vivo platforms to explore pathogenesis and support precision medicine. This review highlights current 3D non‐Hodgkin lymphoma models, detailing their features, advantages, and limitations, and provides a broad perspective on future ...
Carla Faria +3 more
wiley +1 more source
Molecular genetics of Dupuytren’s contracture
EFORT Open ReviewsDupuytren’s contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits’ flexion contractures and is associated with abnormal build-up of type III collagen.
Shankar Aissvarya +3 more
doaj +1 more source
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
PLoS ONE, 2018 Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj +1 more source
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk
Nature, 2011 Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or ≥90 mm Hg diastolic blood pressure).
George B. Ehret +65 more
semanticscholar +1 more source
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
FEBS Letters, EarlyView.Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source