Results 31 to 40 of about 1,290,197 (259)
Frontiers in Physiology, 2022 This study aimed to analyze the influence of the peroxisome proliferator-activated receptor (PPAR)-gamma coactivator (PGC)-1 alpha (PPARGC1A) gene rs8192678 C>T polymorphism on different health-related parameters in male and female young adults.
Adrián Montes-de-Oca-García +19 more
doaj +1 more source
BMC Endocrine DisordersBackground Neuropathy is a frequent complication of diabetes mellitus, a disease that is growing exponentially worldwide. Genetic research has emerged as an important tool for better understanding its predisposition, although a systematic synthesis of ...
Daniella Vinelli-Arzubiaga +3 more
doaj +1 more source
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
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
BMC Cardiovascular Disorders, 2019 Background We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. Methods Published and individual participant level data (300,000+ participants)
Amand F. Schmidt +167 more
doaj +1 more source
Sample Size and Statistical Power Calculation in Genetic Association Studies [PDF]
Genomics & Informatics, 2012 A sample size with sufficient statistical power is critical to the success of genetic association studies to detect causal genes of human complex diseases.
Eun Pyo Hong, Ji Wan Park
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks +5 more
wiley +1 more source
Population Stratification in Genetic Association Studies [PDF]
Current Protocols in Human Genetics, 2017 AbstractPopulation stratification (PS) is a primary consideration in studies of genetic determinants of human traits. Failure to control for PS may lead to confounding, causing a study to fail for lack of significant results, or resources to be wasted following false‐positive signals.
Jacklyn N, Hellwege +5 more
openaire +2 more sources
Design efficiency in genetic association studies [PDF]
Statistics in Medicine, 2020 Selecting the best design for genetic association studies requires careful deliberation; different study designs can be used to scan for different genetic effects, and each design has its own set of strengths and limitations. A variety of family and unrelated control configurations are amenable to genetic association analyses, including the case ...
Miriam Gjerdevik +6 more
openaire +6 more sources
Pediatric 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
Pediatric 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