Results 21 to 30 of about 3,078,517 (268)

Intestine-enriched apolipoprotein b orthologs are required for stem cell progeny differentiation and regeneration in planarians

open access: yesNature Communications, 2022
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

open access: yesStatistics 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

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

open access: yesBiomolecules, 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]

open access: yesHuman 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

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

open access: yesPediatric 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

Cup‐Like Nuclei Is a Hallmark of DUX4/ERG Acute Lymphoblastic Leukemia and Reveals Cytoplasmic Mitochondria Accumulation

open access: yesPediatric Blood &Cancer, EarlyView.
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

open access: yesRespiratory 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

Gene–Gene and Gene–Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy [PDF]

open access: yesClinical 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
openaire   +2 more sources

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

open access: yesPediatric Blood &Cancer, EarlyView.
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

Are Fertility Preservation Procedures Before Gonadotoxic Therapy and Hematopoietic Stem Cell Transplantation Feasible and Safe in Very Young Children? A Retrospective Cohort Study

open access: yesPediatric Blood &Cancer, EarlyView.
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

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