Results 41 to 50 of about 466,963 (251)

Genetic variability for yield and related traits among wild accessions of cowpea and cross-compatibility with cultivated accessions

Agricultura Tropica et Subtropica
Cowpea is an important legume, and its wild relatives could be reliable sources of favorable alleles for genetic diversity and improvement of important traits.
Olayiwola Richard Oluseyi, Taiwo Bolaji Samuel, Oyetunde Oyeboade Adebiyi, Ariyo Omolayo Johnson   +3 more
doaj   +1 more source

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, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

PECULIARITIES OF THE GENETIC STRUCTURE OF RAINBOW TROUT (ONCORHYNCHUS MYKISS) GROUPS AT THE FISH FARM “SLOBODA BANILOV”, CHERNIVTSI REGION

Ribogospodarsʹka Nauka Ukraïni, 2016
Purpose. Study of the peculiarities of the genetic structure based on genetic-biochemical markers in age-1+ and 2+ rainbow trout of the fish farm “Sloboda Banilov”, Chernivtsi region Methodology.
Р. Mendrishora, Т. Nagornjuk, S. Тarasjuk   +2 more
doaj   +1 more source

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

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, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

GPD1 and ADH3 Natural Variants Underlie Glycerol Yield Differences in Wine Fermentation

Frontiers in Microbiology, 2018
Glycerol is one of the most important by-products of alcohol fermentation, and depending on its concentration it can contribute to wine flavor intensity and aroma volatility.
Sebastián M. Tapia, Sebastián M. Tapia, Sebastián M. Tapia, Mara Cuevas, Valentina Abarca, Valentina Abarca, Verónica Delgado, Verónica Delgado, Vicente Rojas, Vicente Rojas, Verónica García, Verónica García, Claire Brice, Claudio Martínez, Claudio Martínez, Francisco Salinas, Francisco Salinas, Luis F. Larrondo, Luis F. Larrondo, Francisco A. Cubillos, Francisco A. Cubillos, Francisco A. Cubillos   +21 more
doaj   +1 more source

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

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, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular 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, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

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

Molecular 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, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 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, VF F Pyatin, NP P Romanchuk, NN N Aleksandrova   +3 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source