Results 121 to 130 of about 9,839 (200)

Identification and characterization of dosage mutator genes in Saccharomyces cerevisiae

, 2015
Cancer is due to an accumulation of mutations in constellations of genes that cause uncontrolled proliferation and evasion of apoptotic pathways.
Ang, J. Sidney
core  

DCTPP1 prevents a mutator phenotype through the modulation of dCTP, dTTP and dUTP pools. [PDF]

Cell Mol Life Sci, 2020
Martínez-Arribas B, Requena CE, Pérez-Moreno G, Ruíz-Pérez LM, Vidal AE, González-Pacanowska D.   +5 more
europepmc   +1 more source

Phenotypic variability in cases with CACNA1A mutation

European Journal of Pediatrics
Abstract The purpose of this study was to enhance understanding of CACNA1A gene variants by elucidating the clinical profiles of patients with different variants. The overlapping features and varying phenotypic characteristics of these neurological disorders pose challenges for clinicians.
Sema Bozkaya-Yilmaz, Nihal Olgac-Dundar, Nargiz Aliyeva, Atilla Ersen, Pinar Gencpinar, Mesut Gungor, Ayse Semra Hiz, Uluc Yis, Gamze Sarikaya-Uzan, Esra Sarigecili, Serkan Kirik, Ilknur Erol, Seyda Besen, Hulya Kayilioglu, Senay Haspolat, Osman Kipoglu, Arzu Ekici, Sevim Turay, Ayse Tosun, Muge Ayanoglu, Aysegul Danis, Fatma Hancı, Yasar Bekir Kutbay, Berk Ozyilmaz, Bulent Kara   +24 more
openaire   +5 more sources

NAD+ dependent UPRmt activation underlies intestinal aging caused by mitochondrial DNA mutations

Nature Communications
Aging in mammals is accompanied by an imbalance of intestinal homeostasis and accumulation of mitochondrial DNA (mtDNA) mutations. However, little is known about how accumulated mtDNA mutations modulate intestinal homeostasis. We observe the accumulation
Liang Yang, Zifeng Ruan, Xiaobing Lin, Hao Wang, Yanmin Xin, Haite Tang, Zhijuan Hu, Yunhao Zhou, Yi Wu, Junwei Wang, Dajiang Qin, Gang Lu, Kerry M. Loomes, Wai-Yee Chan, Xingguo Liu   +14 more
doaj   +1 more source

Tyr82 Amino Acid Mutation in PB1 Polymerase Induces an Influenza Virus Mutator Phenotype. [PDF]

J Virol, 2019
Naito T, Shirai K, Mori K, Muratsu H, Ushirogawa H, Ohniwa RL, Hanada K, Saito M.   +7 more
europepmc   +1 more source

A unique mutator phenotype reveals complementary oncogenic lesions leading to acute leukemia. [PDF]

JCI Insight, 2019
Yin M, Baslan T, Walker RL, Zhu YJ, Freeland A, Matsukawa T, Sridharan S, Nussenzweig A, Pruitt SC, Lowe SW, Meltzer PS, Aplan PD.   +11 more
europepmc   +1 more source

Suboptimal T-cell Therapy Drives a Tumor Cell Mutator Phenotype That Promotes Escape from First-Line Treatment. [PDF]

Cancer Immunol Res, 2019
Evgin L, Huff AL, Kottke T, Thompson J, Molan AM, Driscoll CB, Schuelke M, Shim KG, Wongthida P, Ilett EJ, Smith KK, Harris RS, Coffey M, Pulido JS, Pandha H, Selby PJ, Harrington KJ, Melcher A, Vile RG.   +18 more
europepmc   +1 more source

Pools and Pols: Mechanism of a mutator phenotype. [PDF]

Proc Natl Acad Sci U S A, 2015
Sohl CD, Ray S, Sweasy JB.
europepmc   +1 more source

A maternal germline mutator phenotype in a family affected by heritable colorectal cancer. [PDF]

Genetics
Young CL, Beichman AC, Mas-Ponte D, Hemker SL, Zhu L, Kitzman JO, Shirts BH, Harris K.   +7 more
europepmc   +1 more source

Human Cancers Express a Mutator Phenotype: Hypothesis, Origin, and Consequences. [PDF]

Cancer Res, 2016
Loeb LA.
europepmc   +1 more source