Results 21 to 30 of about 3,058,847 (268)
Biomolecules, 2022 Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction.
Sybren M. M. Robijn +9 more
doaj +1 more source
Gene–gene and gene–environment interactions in ulcerative colitis [PDF]
Human Genetics, 2013 Genome-wide association studies (GWAS) have identified at least 133 ulcerative colitis (UC) associated loci. The role of genetic factors in clinical practice is not clearly defined. The relevance of genetic variants to disease pathogenesis is still uncertain because of not characterized gene-gene and gene-environment interactions.
Ming-Hsi, Wang +7 more
openaire +2 more sources
Omnibus testing approach for gene‐based gene‐gene interaction
Statistics in Medicine, 2022 AbstractGenetic interaction is considered as one of the main heritable component of complex traits. With the emergence of genome‐wide association studies (GWAS), a collection of statistical methods dedicated to the identification of interaction at the SNP level have been proposed.
Hébert, Florian +2 more
openaire +4 more sources
SLC38A6 expression in macrophages exacerbates pulmonary inflammation
Respiratory Research, 2023 Pulmonary inflammation involves complex changes of the immune cells, in which macrophages play important roles and their function might be influenced by metabolism. Slc38a6 acts as a carrier of nutrient for macrophages (Mφ) to exert the function. In this
Yizhao Peng +10 more
doaj +1 more source
BMJ, 2003 To the Medical Research Council, currently enjoying the warmth of celebrations marking the 50th anniversary of Crick and Watson's discovery of the double helix at an MRC laboratory, last week's report by the House of Commons science and technology committee must have felt like a bucket of ice cold water.
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Gene–Gene and Gene–Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy [PDF]
Clinical Journal of the American Society of Nephrology, 2014 Molecular genetics have revolutionized the understanding of susceptibility to the broad spectrum of kidney diseases with light microscopic appearance of FSGS, particularly in populations with recent African ancestry. These disorders include idiopathic FSGS, HIV-associated nephropathy, severe lupus nephritis, sickle cell nephropathy, and the primary ...
Barry I, Freedman, Karl, Skorecki
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu +8 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker +11 more
wiley +1 more source
Bayesian mixture modeling of gene‐environment and gene‐gene interactions [PDF]
Genetic Epidemiology, 2009 AbstractWith the advent of rapid and relatively cheap genotyping technologies there is now the opportunity to attempt to identify gene‐environment and gene‐gene interactions when the number of genes and environmental factors is potentially large. Unfortunately the dimensionality of the parameter space leads to a computational explosion in the number of
Wakefield, Jon +2 more
openaire +5 more sources