Results 71 to 80 of about 137,449 (345)

Supplementary Fig 1A from Single Nucleotide Polymorphism–Based Genome-Wide Chromosome Copy Change, Loss of Heterozygosity, and Aneuploidy in Barrett's Esophagus Neoplastic Progression [PDF]

, 2023
Xiaohong Li, Patricia C. Galipeau, Carissa A. Sanchez, Patricia L. Blount, Carlo C. Maley, Jessica Arnaudo, Daniel A. Peiffer, Dmitry Pokholok, Kevin L. Gunderson, Brian J. Reid   +9 more
openalex   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

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

Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]

, 2016
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai, Jablons, David M, Jen, Kuang-Yu, Jones, Kirk, Kang, Hio Chung, Kim, Hong Kwan, Kim, Il-Jin, Kim, James Wansoo, Lee, Sharon, Mendez, Pedro, Woodard, Gavitt, Yoon, Jun-Hee   +11 more
core   +3 more sources

Reclassification of oligoastrocytomas by loss of heterozygosity studies [PDF]

International Journal of Cancer, 2006
Abstract Oligoastrocytomas (OAs) are WHO grade II or III tumors composed of a mixture of 2 neoplastic cell types morphologically resembling the cells in oligodendrogliomas and diffuse astrocytomas. Investigations on the genetic profile of OAs may yield important information for their classification and help for ...
Marica, Eoli, Lorena, Bissola, Maria Grazia, Bruzzone, Bianca, Pollo, Carmelo, Maccagnano, Tiziana, De Simone, Lorella, Valletta, Antonio, Silvani, D, Bianchessi, Giovanni, Broggi, Amerigo, Boiardi, Gaetano, Finocchiaro   +11 more
openaire   +2 more sources

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Loss of expression and promoter methylation of SLIT2 are associated with sessile serrated adenoma formation.

PLoS Genetics, 2013
Serrated adenomas form a distinct subtype of colorectal pre-malignant lesions that may progress to malignancy along a different molecular pathway than the conventional adenoma-carcinoma pathway.
Andrew D Beggs, Angela Jones, Neil Shepherd, Abed Arnaout, Caroline Finlayson, A Muti Abulafi, Dion G Morton, Glenn M Matthews, Shirley V Hodgson, Ian P M Tomlinson   +9 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

Homozygosity and risk of childhood death due to invasive bacterial disease. [PDF]

, 2009
BACKGROUND: Genetic heterozygosity is increasingly being shown to be a key predictor of fitness in natural populations, both through inbreeding depression, inbred individuals having low heterozygosity, and also through chance linkage between a marker and

core   +1 more source

Levels of genetic polymorphism: marker loci versus quantitative traits [PDF]

, 1998
Species are the units used to measure ecological diversity and alleles are the units of genetic diversity. Genetic variation within and among species has been documented most extensively using allozyme electrophoresis.
Butlin R. K., Butlin R. K., Meyer J., Muller H. J., Neems R. M., Nei M., Ward R. D., Watt W. B., Watt W. B., Wu C-I.   +9 more
core   +3 more sources