Results 81 to 90 of about 889,593 (339)
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Multiple sclerosis susceptibility alleles in African Americans. [PDF]
, 2010 Multiple sclerosis (MS) is an autoimmune demyelinating disease characterized by complex genetics and multifaceted gene-environment interactions. Compared to whites, African Americans have a lower risk for developing MS, but African Americans with MS have
Caillier, SJ +11 more
core
Balancing Selection at the Tomato RCR3 Guardee Gene Family Maintains Variation in Strength of Pathogen Defense [PDF]
, 2012 Coevolution between hosts and pathogens is thought to occur between interacting molecules of both species. This results in the maintenance of genetic diversity at pathogen antigens (or so-called effectors) and host resistance genes such as the major ...
Hoerger, A. +5 more
core +4 more sources
Molecular Oncology, EarlyView.Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova +14 more
wiley +1 more source
GENOTYPES AND PHENOTYPES OF ALZHEIMER’S DISEASE
Наука и инновации в медицине, 2018 Aim - research of gene APOE for definition of allele structures of the human population phenotypes resulting in risk of Alzheimer’s disease. Materials and methods. Use of the Hardy-Weinberg theory and statistical researches of the alleles distribution of
AN N Volobuev +3 more
doaj +1 more source
Cessation of mass drug administration for lymphatic filariasis in Zanzibar in 2006: was transmission interrupted? [PDF]
, 2015 BACKGROUND: Lymphatic filariasis (LF) is targeted for elimination through annual mass drug administration (MDA) for 4-6 years. In 2006, Zanzibar stopped MDA against LF after five rounds of MDA revealed no microfilaraemic individuals during surveys at ...
Cullen, Katelyn J +10 more
core +7 more sources
Molecular Oncology, EarlyView.EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain +10 more
wiley +1 more source
Characterization of two new alleles at the goat CSN1S2 locus. [PDF]
, 2001 Two novel alleles at the goat CSN1S2 locus have been identified: CSN1S2(F) and CSN1S2(D). Sequence analyses revealed that the CSN1S2(F) allele is characterized by a G --> A transition at the 13th nucleotide in exon 3 changing the seventh amino acid of ...
COSENZA, GIANFRANCO +7 more
core +1 more source
Molecular Oncology, EarlyView.Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena +15 more
wiley +1 more source
Salud Pública de México, 2009 El estudio de la participación de la variación genética en la predisposición a las enfermedades complejas ha cobrado nuevas dimensiones en la era genómica.
Jesús Hernández-Romano +2 more
doaj