Results 71 to 80 of about 818,935 (300)

Identifikasi Genetik Menggunakan Marker Mikrosatelit dan Hubungannya dengan Sifat Kuantitatif pada Sapi

open access: yesMedia Peternakan, 2007
The occurrence of genetic changes in Bali and Brangus cattle crossing and it’s relationship to quantitative traits (e.g. growth and birth weight) were identified using microsatellite markers.
Maskur, Muladno, B. Tappa
doaj  

Allele-specific 3C analysis of SIRPB1.

open access: yes, 2018
Panel A illustrates the design of the allele-specific 3C. The anchor primer is intended to amplify the rs2203313 before reaching the HindIII site. As a control, a reverse primer is designed to amplify the SNP before the amplicon reaches the HinddIII site
Arantxa Lupiañez (4922932)   +7 more
core   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

open access: yesMolecular 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

Allele-specific expression of an EDNRB2 fusion transcript in piebald birds with the baldhead-associated duplication.

open access: yes, 2023
(A) example showing coverage of DNA sequencing (top) and RNA sequencing (middle and bottom) in samples from a representative Old Dutch Capuchine at the EDNRB2 locus. Introns (line) and exons (block) are diagrammed in blue below.
Michael D. Shapiro (7905611)   +6 more
core   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

open access: yesMolecular 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

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

open access: yesMolecular 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

Interpreting the effects of DNA polymerase variants at the structural level

open access: yesMolecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi   +7 more
wiley   +1 more source

Association analysis between the C516T polymorphism in the 5-HT2A receptor gene and schizophrenia Análise de associação entre o polimorfismo C516T do gene do receptor 5-HT2A e esquizofrenia

open access: yesArquivos de Neuro-Psiquiatria, 2007
Data from epidemiological studies have demonstrated that genetics is an important risk factor for schizophrenia. Disturbances of serotonergic brain pathways have been implicated in the pathophysiology of schizophrenia.
Vivian Bertola   +4 more
doaj   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

open access: yesMolecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel   +12 more
wiley   +1 more source

Allele-level genotype data for 134 Rock wren (Xenicus gilviventris) genotyped at 14 microsatellite loci

open access: yes, 2015
Allele-level genotype data for 134 Rock wren (Xenicus gilviventris) genotyped at 14 microsatellite loci.
Weston, Kerry A.   +1 more
core   +1 more source

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