Results 21 to 30 of about 3,078,517 (268)
Lipid metabolism regulates stem cell states and differentiation. Here, the authors demonstrate a requirement in planarians for Apolipoprotein B-mediated neutral lipid transport from intestinal stores to stem cells and their progeny during differentiation
Lily L. Wong +5 more
doaj +1 more source
Omnibus testing approach for gene‐based gene‐gene interaction
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
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]
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
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
ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille +9 more
wiley +1 more source
SLC38A6 expression in macrophages exacerbates pulmonary inflammation
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
Gene–Gene and Gene–Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy [PDF]
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
openaire +2 more sources
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger +7 more
wiley +1 more source
ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian +13 more
wiley +1 more source

