Results 101 to 110 of about 548,379 (312)

Analysis of rare variants of autosomal‐dominant genes in a Chinese population with sporadic Parkinson’s disease

Molecular Genetics & Genomic Medicine, 2020
Background To date, several studies have suggested that genes involved in monogenic forms of Parkinson's disease (PD) contribute to unrelated sporadic cases, but there is limited evidence in the Chinese population.
Ran Zheng, Chong‐Yao Jin, Ying Chen, Yang Ruan, Ting Gao, Zhi‐Hao Lin, Jia‐Xian Dong, Ya‐Ping Yan, Jun Tian, Jia‐Li Pu, Bao‐Rong Zhang   +10 more
doaj   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

The Evolution of Gene Dominance through the Baldwin Effect

CoRR, 2018
It has recently been suggested that the fundamental haploid-diploid cycle of eukaryotic sex exploits a rudimentary form of the Baldwin effect. Thereafter the other associated phenomena can be explained as evolution tuning the amount and frequency of learning experienced by an organism.
openaire   +2 more sources

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Tetraploid and hexaploid wheat varieties reveal large differences in expression of alpha-gliadins from homoelogous Gli-loci [PDF]

, 2009
Background - A-gliadins form a multigene protein family encoded by multiple ¿-gliadin (Gli-2) genes at three genomic loci, Gli-A2, Gli-B2 and Gli-D2, respectively located on the homoeologous wheat chromosomes 6AS, 6BS, and 6DS.
Elma MJ Salentijn, van der Meer, I.M., Goryunova, S.V., Bas, N., Bastien, T.A., Svetlana V Goryunova, Gilissen, L.J.W.J., Salentijn, Elma, Meer, I.M., van der, Ingrid M Meer, Ingrid M van der Meer, Broeck, H.C., van den, Hetty C den Broeck, van den Broeck, H.C., Marinus JM Smulders, Noor Bas, Hetty C van den Broeck, Salentijn, E.M.J., Smulders, M.J.M., Luud JWJ Gilissen, Thomas Bastien   +20 more
core   +1 more source

Phenylacetic acid metabolic genes are associated with Mycobacteroides abscessus dominant circulating clone 1

Microbiology Spectrum
Mycobacteroides abscessus (MAB) causes lung infections in people with cystic fibrosis (pwCF), and infecting strains show significant genetic variability both between and within individuals. MAB isolates can be divided into dominant clonal clusters (DCCs)
Brittany N. Ross, Emma Evans, Marvin Whiteley   +2 more
doaj   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Identification of new genes associated with melanoma [PDF]

, 2011
Purpose: Repeated failures in melanoma therapy made clear that the molecular mechanisms leading to melanoma are still poorly understood. Here, we aim to provide a more comprehensive understanding of the transcriptional profiles and signaling pathways ...
Mauerer, Andreas
core   +1 more source

Proteasome inhibitor, ixazomib prevents topoisomerase‐I degradation and reverses irinotecan resistance in colorectal cancer

Molecular Oncology, EarlyView.
Ixazomib inhibits proteasome‐mediated degradation of topoisomerase I induced by irinotecan, thereby restoring drug sensitivity and promoting tumor cell death in colorectal cancer. Irinotecan, a topoisomerase I (topoI) inhibitor, is widely used for colorectal cancer, but resistance remains a major clinical challenge.
Yuho Ebata, Koji Ando, Hirofumi Hasuda, Koshi Mimori, Elizabeth C. Unan, Siddhartha Pulukuri, Aahana Tiku, Allison Berger, Eiji Oki, Ajit Bharti, Tomoharu Yoshizumi   +10 more
wiley   +1 more source

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. [PDF]

, 2010
BACKGROUND: Autism spectrum disorders (ASDs) are a group of highly heritable neurodevelopmental disorders which are characteristically comprised of impairments in social interaction, communication and restricted interests/behaviours.
Klauck, Sabine M., Mulder, EJ, Monaco, Anthony P, Klauck, Sabine M, Bailey, Anthony J., Bailey Anthony J, Poustka Fritz, Sousa, I, Bailey, Anthony J, Pagnamenta Alistair T, Fritz Poustka, Mulder, Erik J., Alistair T Pagnamenta, Battaglia Agatino, Taane G Clark, Clark, Taane Gregrory, Mulder Erik J, Clark, Taane G., Monaco, AP, Pagnamenta, Alistair T, Minderaa Ruud B, Klauck Sabine M, Sousa, Inês, Pagnamenta, AT, Anthony P Monaco, Monaco Anthony P, Erik J Mulder, null null, Clark, Taane G, Clark, TG, Klauck, SM, Monaco, Anthony P., Ruud B Minderaa, Pagnamenta, Alistair T., Minderaa, Ruud B., Inês Sousa, Holt, Richard, International Molecular Genetic Study of Autism Consortium (IMGS, Monaco, Anthony, Richard Holt, Anthony J Bailey, Clark Taane G, Minderaa, Ruud B, Battaglia, Agatino, Holt, R, Sabine M Klauck, Bailey, AJ, Agatino Battaglia, Holt Richard, Minderaa, RB, Mulder, Erik J, Sousa Inês, Poustka, F, Poustka, Fritz, Battaglia, A   +54 more
core   +1 more source