Results 71 to 80 of about 2,755,429 (311)

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

Journal 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, Masaya Igase, Yusuke Sakai, Kenji Hagimori, Hiroshi Sunahara, Hiro Horikirizono, Kazuhito Itamoto, Kenji Baba, Yoshiharu Ohsato, Takuya Mizuno   +9 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

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Growth, competition and cooperation in spatial population genetics [PDF]

Theoretical Population Biology 84, 72-86 (2013), 2012
We study an individual based model describing competition in space between two different alleles. Although the model is similar in spirit to classic models of spatial population genetics such as the stepping stone model, here however space is continuous and the total density of competing individuals fluctuates due to demographic stochasticity. By means
arxiv   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Dual MGMT inactivation by promoter hypermethylation and loss of the long arm of chromosome 10 in glioblastoma

Cancer Medicine, 2020
Background Epigenetic inactivation of O6‐methylguanine‐methyltransferase (MGMT) gene by methylation of its promoter is predictive of Temozolomid (TMZ) response in glioblastoma (GBM).
Sophie Richard, Gaëlle Tachon, Serge Milin, Michel Wager, Lucie Karayan‐Tapon   +4 more
doaj   +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

A CUSUM approach to the detection of copy-number neutral loss of heterozygosity [PDF]

arXiv, 2017
Several genetic alterations are involved in the genesis and development of cancers. The determination of whether and how each genetic alterations contributes to cancer development is fundamental for a complete understanding of the human cancer etiology.
arxiv  

Loss Of Heterozygosity

, 2014
Author: Molecular Profiling Initiative, NCI *This method was successful in our lab using prostate tissue and for our specific objectives. Investigators must be aware that they will need to tailor the following protocol for their own research objectives and tissue under study*. This method is used to detect genomic DNA deletions in tumor cells.
openaire   +3 more sources