Results 31 to 40 of about 73,290 (250)

Value of the loss of heterozygosity to BRCA1 variant classification

npj Breast Cancer, 2022
At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging.
Elizabeth Santana dos Santos, Amanda B. Spurdle, Dirce M. Carraro, Adrien Briaux, Melissa Southey, Giovana Torrezan, Ambre Petitalot, Raphael Leman, Philippe Lafitte, kConFab Investigators, Didier Meseure, Keltouma Driouch, Lucy Side, Carole Brewer, Sarah Beck, Athalie Melville, Alison Callaway, Françoise Revillion, Maria A. A. Koike Folgueira, Michael T. Parsons, Heather Thorne, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Ivan Bieche, Sandrine M. Caputo, Etienne Rouleau   +25 more
doaj   +1 more source

Familial Adenomatous Polyposis: Analysis of Genetic Instability of Microsatellites Loci and Genetic Alternations of Tumor Suppressor Genes

Biomolecules & Biomedicine, 2008
Familial adenomatous polyposis (FAP) is an autosomal dominant illness with the highest risk for appearance of colorectal cancer’s disease. In our study, we have used Bethesda criteria that define colorectal cancers which can be tested on microsatellite ...
Vesna Hadžiavdić, Izet Eminović, Mensura Aščerić, Radovan Komel   +3 more
doaj   +1 more source

The cell cycle stage of bovine zygotes electroporated with CRISPR/Cas9-RNP affects frequency of Loss-of-heterozygosity editing events

Scientific Reports, 2022
At the embryonic level, CRISPR technologies have been used to edit genomes reliably and efficiently in various mammalian models, with Ribonucleoprotein (RNP) electroporation potentially representing a superior delivery method into mammalian zygotes ...
Dennis Miskel, Mikhael Poirier, Luisa Beunink, Franca Rings, Eva Held, Ernst Tholen, Dawit Tesfaye, Karl Schellander, Dessie Salilew-Wondim, Carina Blaschka, Christine Große-Brinkhaus, Brenig Bertram, Michael Hoelker   +12 more
doaj   +1 more source

TP53 Abnormalities are frequent and early events in the sequential pathogenesis of gallbladder carcinoma§

Annals of Hepatology, 2005
Background: Gallbladder carcinoma (GBC) is a frequent neoplasm in Hispanic and native American populations. GBC is preceded by gallstones, chronic cholecystitis and dysplastic changes of the gallbladder epithelium.
Mauricio Moreno, Fernando Pimentel, Adi F. Gazdar, Ignacio I. Wistuba, Juan F. Miquel   +4 more
doaj   +1 more source

Characterization of phenotypic variation and genome aberrations observed among Phytophthora ramorum isolates from diverse hosts

BMC Genomics, 2018
Background Accumulating evidence suggests that genome plasticity allows filamentous plant pathogens to adapt to changing environments. Recently, the generalist plant pathogen Phytophthora ramorum has been documented to undergo irreversible phenotypic ...
Marianne Elliott, Jennifer Yuzon, Mathu Malar C, Sucheta Tripathy, Mai Bui, Gary A. Chastagner, Katie Coats, David M. Rizzo, Matteo Garbelotto, Takao Kasuga   +9 more
doaj   +1 more source

Patterns of Genomic Instability in Interspecific Yeast Hybrids With Diverse Ancestries

Frontiers in Fungal Biology, 2021
The genomes of hybrids often show substantial deviations from the features of the parent genomes, including genomic instabilities characterized by chromosomal rearrangements, gains, and losses.
Devin P. Bendixsen, David Peris, David Peris, Rike Stelkens   +3 more
doaj   +1 more source

A Population‐Based Study on Childhood Aplastic Anemia—Incidence, Outcomes, and Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala, Riitta Niinimäki, Tytti Pokka, Anu Huurre, Liisa Järvelä, Sauli Palmu, Tuuli Pöyhönen, Pauliina Utriainen, Henri Aarnivala   +8 more
wiley   +1 more source

A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue

BioTechniques, 2014
When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of ...
Ignacio Erquiaga, Cristina Hurtado, Paula Aranaz, Francisco J. Novo, José L. Vizmanos   +4 more
doaj   +1 more source

Microsatellite Instability and Loss of Heterozygosity in Melanoma

Journal of Investigative Dermatology, 1995
Alterations in the repeat length of microsatellites have been identified recently in tumors arising in patients with hereditary nonpolyposis colon cancer and in several human sporadic tumors. We examined 40 sporadic melanomas and their corresponding nontumorous skin for microsatellite instability (MSI) and loss of heterozygosity (LOH) at chromosomes 2q,
Peris, Ketty, Keller, G, Chimenti, S, Amantea, A, Kerl, H, Höfler, H.   +5 more
openaire   +3 more sources

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source