Results 61 to 70 of about 89,986 (324)

Circulating tumor DNA monitoring and blood tumor mutational burden in patients with metastatic solid tumors treated with atezolizumab

open access: yesMolecular Oncology, EarlyView.
In patients treated with atezolizumab as a part of the MyPathway (NCT02091141) trial, pre‐treatment ctDNA tumor fraction at high levels was associated with poor outcomes (radiographic response, progression‐free survival, and overall survival) but better sensitivity for blood tumor mutational burden (bTMB).
Charles Swanton   +17 more
wiley   +1 more source

Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: a familiar case with recombination event

open access: yesRevista Ciencias de la Salud, 2012
Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterizedby muscular weakness. It is caused by mutations on the dystrophin gen.
Fonseca-Mendoza Dora Janeth   +2 more
doaj  

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

open access: yesBioTechniques, 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   +4 more
doaj   +1 more source

ADD3 Deletion in Glioblastoma Predicts Disease Status and Survival

open access: yesFrontiers in Oncology, 2021
Loss of heterozygosity (LOH) on chromosome 10 frequently occurs in gliomas. Whereas genetic loci with allelic deletion often implicate tumor suppressor genes, a putative tumor suppressor Adducin3 (ADD3) mapped to chromosome 10q25.2 was found to be ...
Karrie Mei-Yee Kiang   +2 more
doaj   +1 more source

Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer

open access: yesGenome Research, 2012
Loss of heterozygosity (LOH) and copy number alteration (CNA) feature prominently in the somatic genomic landscape of tumors. As such, karyotypic aberrations in cancer genomes have been studied extensively to discover novel oncogenes and tumor-suppressor
G. Ha   +16 more
semanticscholar   +1 more source

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

open access: yesFEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki   +11 more
wiley   +1 more source

Relationship of microsatellite instability to mismatch repair deficiency in malignant tumors of dogs

open access: yesJournal of Veterinary Internal Medicine, 2022
Background Microsatellite instability (MSI) is a type of genomic instability caused by mismatch repair deficiency (dMMR) in tumors. Studies on dMMR/MSI are limited, and the relationship between dMMR and MSI is unknown in tumors of dogs.
Sakuya Inanaga   +9 more
doaj   +1 more source

Genome sequencing and mapping reveal loss of heterozygosity as a mechanism for rapid adaptation in the vegetable pathogen Phytophthora capsici.

open access: yesMolecular Plant-Microbe Interactions, 2012
The oomycete vegetable pathogen Phytophthora capsici has shown remarkable adaptation to fungicides and new hosts. Like other members of this destructive genus, P.
K. Lamour   +34 more
semanticscholar   +1 more source

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

open access: yesFEBS Open Bio, EarlyView.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić   +3 more
wiley   +1 more source

High-Resolution Detection of Loss of Heterozygosity of Dinucleotide Microsatellite Markers

open access: yesBioTechniques, 2001
Dinucleotide microsatellite markers are frequently investigated to study inheritance, genetic stability, and allele frequency distribution in a wide variety of genetic disorders. Previous studies have encountered significant problems regarding resolution
Rebecca N. Hourihan   +2 more
doaj   +1 more source

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