Results 191 to 200 of about 155,866 (241)

Neomorphic leukemia-derived mutations in the TET2 enzyme induce genome instability via a substrate shift from 5-methylcytosine to thymine. [PDF]

Proc Natl Acad Sci U S A
Jin GB, Rong SQ, Yin DR, Deng ZH, Ding X, Sheng MY, Gao H, Kohli RM, Xu GL, Zhou D.   +9 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

RNA polymerase stalling-derived genome instability underlies ribosomal antibiotic efficacy and resistance evolution. [PDF]

Nat Commun
Zheng Y, Chai R, Wang T, Xu Z, He Y, Shen P, Liu J.   +6 more
europepmc   +1 more source

Characterizing a murine breast cancer mouse model reveals chromosomal abnormalities in structure and number of single‐cell clones and the presence of rare cancer stem cell‐like phenotypes

Animal Models and Experimental Medicine, EarlyView.
Characterizing a murine breast cancer mouse model reveals chromosomal abnormalities in structure and number of single‐cell clones and the presence of rare cancer stem cell‐like phenotypes. Abstract Realistic models for cancer research representing disease progression that commensurately respond to therapeutics consistent with clinical observation are ...
Quy Van‐Chanh Le, Zsuzsa S. Kocsis, Sisi Liang, Yanrui Li, Briony L. Gliddon, Sheree Bailey, Anh Thai‐Quynh Nguyen, Tyron Turnbull, Stuart M. Pitson, Zsolt Jurányi, Hien Le, Ivan Kempson   +11 more
wiley   +1 more source

From Covalent Traps to Fluorescent Beacons: The Expanding Arsenal of Chemical Probes for Studying Ubiquitin and Ubiquitin‐Like Proteins

Angewandte Chemie, EarlyView.
A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley   +2 more sources

cGAS-STING signalling regulates microglial chemotaxis in genome instability. [PDF]

Nucleic Acids Res
Talbot EJ, Joshi L, Thornton P, Dezfouli M, Tsafou K, Perkinton M, Khoronenkova SV.   +6 more
europepmc   +1 more source

DNase1 RS1053874 Polymorphism is Associated with Early Neurological Recovery through NET Modulation and with Long‐Term Survival in Ischemic Stroke: A Prospective Cohort Study

Annals of Neurology, EarlyView.
Objective Immunothrombosis contributes to ischemic stroke pathophysiology through neutrophil extracellular trap (NET) formation, which promotes thrombus stabilization and microvascular dysfunction. DNase1 is the principal endonuclease responsible for NET degradation.
B. Díaz‐Benito, P. Calleja, L. Alzamora, A. Ruiz‐García, A. Martínez‐Salio, M. Muñoz‐García, F. Ostos, A. García‐Culebras, A. Moraga, M.A. Moro, I. Lizasoain   +10 more
wiley   +1 more source

Biosynthesis of Kaitocephalin: A Neuroprotective Natural Product Featuring a Peptide‐Like yet Nonpeptidic Scaffold

Angewandte Chemie, EarlyView.
Kaitocephalin (KCP) is a neuroprotective fungal metabolite with a unique scaffold of amino acids linked via C–C bonds. Genome‐transcriptome analyses identified its biosynthetic gene cluster (kpb cluster) in Eupenicillium shearii. LC‐MS/MS profiling identified four new KCP‐related compounds.
Yukari Maeno, Taro Shiraishi, Naoya Saito, Jun‐ichi Maruyama, Kazuo Shin‐ya, Tomohisa Kuzuyama   +5 more
wiley   +2 more sources

AI powered quantification of nuclear morphology in cancers enables prediction of genome instability and prognosis. [PDF]

NPJ Precis Oncol
Abel J, Jain S, Rajan D, Padigela H, Leidal K, Prakash A, Conway J, Nercessian M, Kirkup C, Javed SA, Biju R, Harguindeguy N, Shenker D, Indorf N, Sanghavi D, Egger R, Trotter B, Gerardin Y, Brosnan-Cashman JA, Dhoot A, Montalto MC, Parmar C, Wapinski I, Khosla A, Drage MG, Yu L, Taylor-Weiner A.   +26 more
europepmc   +1 more source