BMC Cancer, 2012 Background The aim of the study was to evaluate potential chemotherapy-induced microsatellite instability, loss of heterozygosity, loss of expression in mismatch repair proteins and associations with clinical findings in breast cancer patients ...
Kamat Nasir +6 more
doaj +1 more source
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension [PDF]
, 2005 BACKGROUND: Primary pulmonary arterial hypertension (PAH) is a potentially devastating condition resulting from occlusion of the pulmonary arterioles by the formation of vascular lesions. Heterozygous mutations in the gene encoding the bone morphogenetic
Aldred, Micheala A. +8 more
core +1 more source
Loss of Heterozygosities in Five Tumor Suppressor Genes (FHIT Gene, p16, pRb, E-Cadherin and p53) in Thyroid Tumors [PDF]
Clinical and Experimental Otorhinolaryngology, 2014 ObjectivesTo evaluate the loss of heterozygosities (LOH) of chromosomes 3p14 (FHIT gene), 9p21 (p16), 13q21 (pRb), 6q22 (E-cadherin) and 17p13 (p53) in various thyroid tumors.MethodsEighty thyroid tumor cases (20 follicular adenomas, 10 follicular ...
Jin Hwan Kim +4 more
doaj +1 more source
Imaging correlates of molecular signatures in oligodendrogliomas. [PDF]
, 2004 Molecular subsets of oligodendroglioma behave in biologically distinct ways. Their locations in the brain, rates of growth, and responses to therapy differ with their genotypes. Retrospectively, we inquired whether allelic loss of chromosomal arms 1p and
Betensky, Rebecca A +10 more
core +2 more sources
Loss of heterozygosity (LOH)--implications for human genetic identification.
Folia Histochemica et Cytobiologica, 2009 The aim of this study was assessment of possible effects of loss of heterozygosity on human genetic identification of histolopathogical tissue sections. DNA templates were extracted from tumour tissue specimens excised from oncological patients and from ...
Jerzy Janica +7 more
doaj +1 more source
mBio, 2018 The opportunistic fungal pathogen Candida albicans lacks a conventional sexual program and is thought to evolve, at least primarily, through the clonal acquisition of genetic changes. Here, we performed an analysis of heterozygous diploid genomes from 21
Joshua M. Wang +2 more
doaj +1 more source
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 +25 more
doaj +1 more source
Genetic variability of some Italian and Polish duck breeds [PDF]
, 2018 This study is aimed to estimate and compare the inter- and within-breed variability of duck populations under genetic conservation programmes. The following four duck breeds were analysed: Germanata Veneta (AGV) and Mignon (AMG) from Italy, Pekin Krajowy
Carc\uf2, Giuseppe +4 more
core +1 more source
Exploiting loss of heterozygosity for allele-selective colorectal cancer chemotherapy
Nature Communications, 2020 Allelic losses occurring in cancer cells have been suggested as potential targets for therapy. Here, the authors show how recurring loss of heterozygosity of a drug metabolic gene in colorectal cancers can be exploited using a low molecular weight ...
Veronica Rendo +13 more
doaj +1 more source
Genomic profiling of malignant peritoneal mesothelioma reveals recurrent alterations in epigenetic regulatory genes BAP1, SETD2, and DDX3X. [PDF]
, 2017 Malignant mesothelioma is a rare cancer that arises from the mesothelial cells that line the pleural cavity and less commonly from the peritoneal lining of the abdomen and pelvis.
Bastian, Boris C +10 more
core +2 more sources