Results 61 to 70 of about 91,099 (345)

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

Molecular 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, Russell W. Madison, Candice Francheska B. Tambaoan, Funda Meric‐Bernstam, Christopher J. Sweeney, Razelle Kurzrock, Howard A. Burris III, David R. Spigel, Hanna Tukachinsky, Jason Hughes, Julia Malato, Bongin Yoo, Tania Szado, Cheryl Schwab, Lincoln W. Pasquina, Amaya Gasco, Katja Schulze, Claire F. Friedman   +17 more
wiley   +1 more source

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

Revista 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, Mateus-Arbeláez Heidi, Silva-Aldana Claudia Tamar   +2 more
doaj  

Molecular Analysis: Microsatellite Instability and Loss of Heterozygosity of Tumor Suppressor Gene in Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Biomolecules & Biomedicine, 2009
HNPCC (Hereditary non-polyposis colorectal cancer) development is caused by mutation of genes included in system of mismatch repair genes. The mutation exists at 60% of patients in hMSH2 gene, 30% in hMLH1 and 10% both in hPMS1and hPMS2 genes.
Vesna Hadžiavdić, Nada Pavlović-Čalić, Izet Eminović   +2 more
doaj   +1 more source

Loss of heterozygosity at 7p in Wilms’ tumour development [PDF]

British Journal of Cancer, 2000
Chromosome 7p alterations have been implicated in the development of Wilms' tumour (WT) by previous studies of tumour cytogenetics, and by our analysis of a constitutional translocation (t(1;7)(q42;p15)) in a child with WT and radial aplasia. We therefore used polymorphic microsatellite markers on 7p for a loss of heterozygosity (LOH) study, and found ...
Paul A. Reynolds, M Boavida, Rachel M. Powlesland, Keith W. Brown, S Pires, Adrian Charles, Karim Malik   +6 more
openaire   +2 more sources

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

FEBS 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, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +1 more source

Analysis of loss of heterozygosity of the tumor suppressor genes p53 and BRCA1 in ovarial carcinomas [PDF]

Vojnosanitetski Pregled, 2006
Background/aim: Among the genes involved in ovarian carcinogenesis, there has been increased interest in tumor-suppressor genes p53 and BRCA1. Both of the genes make control of cell cycle, DNA repair and apoptosis.
Luković Ljiljana, Popović Branka, Atanacković Jasmina, Novaković Ivana, Perović Milica, Petrović Bojana, Petković Spasoje   +6 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

Genome 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, Andrew Roth, D. Lai, Ali Bashashati, Jiarui Ding, R. Goya, Ryan Giuliany, Jamie Rosner, A. Oloumi, K. Shumansky, S. Chin, G. Turashvili, M. Hirst, C. Caldas, M. Marra, Samuel Aparicio, Sohrab P. Shah   +16 more
semanticscholar   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

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

BioTechniques, 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, Gerald C. O’Sullivan, John G. Morgan   +2 more
doaj   +1 more source

Genomic loss of heterozygosity and survival in the REAL3 trial [PDF]

Oncotarget, 2018
Homologous recombination deficiency (HRD) measured using a genomic signature for loss of heterozygosity (LOH) predicts benefit from rucaparib in ovarian cancer. We hypothesized that some oesophagogastric cancers will have high-LOH which would be prognostic in patients treated with platinum chemotherapy.Diagnostic biopsy DNA from patients treated in the
David Watkins, Elizabeth C Smyth, Elizabeth C Smyth, Andrew Wotherspoon, Catherine Cafferkey, David Cunningham, Alicia Okines, Ian Chau, Naureen Starling, Clare Peckitt, Jonathan Wadsley, Thomas Harding, Ruwaida Begum, Wasat Mansoor, Sheela Rao, Andrea Loehr, Minh Nam Nguyen, Gary Middleton, Tom Crosby, T. Waddell, Mitch Raponi   +20 more
openaire   +4 more sources