Results 91 to 100 of about 14,999,742 (341)

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Mutational robustness and the role of buffer genes in evolvability

The EMBO Journal
Organisms rely on mutations to fuel adaptive evolution. However, many mutations impose a negative effect on fitness. Cells may have therefore evolved mechanisms that affect the phenotypic effects of mutations, thus conferring mutational robustness ...
Mohammed T Tawfeeq, Karin Voordeckers, Pieter van den Berg, Sander K Govers, Jan Michiels, Kevin J Verstrepen   +5 more
doaj   +1 more source

Mutational spectrum drives the rise of mutator bacteria.

PLoS Genetics, 2013
Understanding how mutator strains emerge in bacterial populations is relevant both to evolutionary theory and to reduce the threat they pose in clinical settings.
Alejandro Couce, Javier R Guelfo, Jesús Blázquez   +2 more
doaj   +1 more source

An Integrative Analysis Reveals the Underlying Association Between CTNNB1 Mutation and Immunotherapy in Hepatocellular Carcinoma

Frontiers in Oncology, 2020
Background: Tumor mutational burden (TMB) was verified to be closely associated with immune checkpoint inhibitors, but it is unclear whether gene mutation has an effect on immunotherapy of hepatocellular carcinoma (HCC).
Zhuomao Mo, Yongdan Wang, Zhirui Cao, Pan Li, Shijun Zhang   +4 more
doaj   +1 more source

A mutation-level covariate model for mutational signatures.

PLoS Computational Biology, 2023
Mutational processes and their exposures in particular genomes are key to our understanding of how these genomes are shaped. However, current analyses assume that these processes are uniformly active across the genome without accounting for potential ...
Itay Kahane, Mark D M Leiserson, Roded Sharan   +2 more
doaj   +1 more source

Mechanism underlying synergic activation of Tyrosinase promoter by MITF and IRF4 [PDF]

, 2017
Background: The transcription factor interferon regulatory factor 4 (IRF4) was identified to be involved in human pigmentation by genome-wide association studies (GWASs).
Cai, Xinzhang, Chen, Hongsheng, Feng, Yong, He, Chufeng, Li, Jiada, Liu, Huadie, Liu, Xueming, Liu, Yalan, Mei, Lingyun, Peng, Zhen, Song, Jian, Vleminckx, Kris   +11 more
core   +1 more source

Phenotypic robustness can increase phenotypic variability after non-genetic perturbations in gene regulatory circuits [PDF]

, 2010
Non-genetic perturbations, such as environmental change or developmental noise, can induce novel phenotypes. If an induced phenotype confers a fitness advantage, selection may promote its genetic stabilization. Non-genetic perturbations can thus initiate
Ancel, Aubret, Azevedo, Bergman, Ciliberti, Ciliberti, Cooper, Davidson, de Jong, de Visser, Draghi, Draghi, Eldar, Elowitz, Espinosa-Soto, Espinosa-Soto, Ferrada, Fraser, Gibson, Gilbert, Gomez-Mestre, Griswold, Hall, Hermisson, Kim, Kimbrell, Kondrashov, Lande, Ledon-Rettig, Lehner, Levy, Lipman, Martin, Martin, Masel, Masel, Masel, McAdams, Meiklejohn, Moczek, Newman, Orr, Palmer, Palmer, Pigliucci, Pigliucci, Price, Proulx, Prud'homme, Raj, Rice, Roberts, Rodrigues, Rutherford, Schmalhausen, Schultes, Schuster, Shubin, Siegal, Snell-Rood, Sollars, Suzuki, Tirosh, van Nimwegen, Waddington, Waddington, Wagner, Wagner, Wagner, Wagner, Wagner, West-Eberhard, West-Eberhard, Wray   +73 more
core   +3 more sources

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

Scientific Reports, 2018
The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/availability of genetic testing.
E. Palmero, D. Carraro, Bárbara Alemar, M. A. Moreira, Ândrea Ribeiro-dos-Santos, K. Abé-Sandes, H. Galvão, R. Reis, C. de Pádua Souza, Natalia Campacci, M. Achatz, R. Brianese, Maria Nirvana da Cruz Formiga, F. Makdissi, F. Vargas, Anna Cláudia Evangelista dos Santos, H. Seuánez, Kelly Rose Lobo de Souza, C. Netto, Patrícia Santos-Silva, Gustavo Stumpf da Silva, R. Burbano, S. Santos, P. Assumpção, Izabel Maria Monteiro Bernardes, Taísa Manuela Bonfim Machado-Lopes, T. Bomfim, M. Toralles, I. Nascimento, B. Garicochea, S. Simon, Simone Noronha, Fernanda Teresa de Lima, A. Chami, C. Bittar, J. Bines, O. Artigalás, Maria Del Pilar Esteves-Diz, T. Lajus, A. C. L. V. C. Gifoni, R. Guindalini, Terezinha Sarquis Cintra, I. Schwartz, P. Bernardi, D. Miguel, Sonia Tereza dos Santos Nogueira, J. Herzog, J. Weitzel, P. Ashton-Prolla   +48 more
semanticscholar   +1 more source

Cystathionine β-synthase mutations: effect of mutation topology on folding and activity [PDF]

Human Mutation, 2010
Misfolding of mutant enzymes may play an important role in the pathogenesis of cystathionine beta-synthase (CBS) deficiency. We examined properties of a series of 27 mutant variants, which together represent 70% of known alleles observed in patients with homocystinuria due to CBS deficiency.
Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N   +7 more
openaire   +2 more sources

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source