Results 81 to 90 of about 116,201 (208)

ATM promotes the obligate XY crossover and both crossover control and chromosome axis integrity on autosomes.

PLoS Genetics, 2008
During meiosis in most sexually reproducing organisms, recombination forms crossovers between homologous maternal and paternal chromosomes and thereby promotes proper chromosome segregation at the first meiotic division.
Marco Barchi, Ignasi Roig, Monica Di Giacomo, Dirk G de Rooij, Scott Keeney, Maria Jasin   +5 more
doaj   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

An Aurora kinase A-BOD1L1-PP2A B56 axis promotes chromosome segregation fidelity

Cell Reports
Summary: Cancer cells are often aneuploid and frequently display elevated rates of chromosome mis-segregation, called chromosomal instability (CIN).
Thomas J. Kucharski, Irma M. Vlasac, Tatiana Lyalina, Martin R. Higgs, Brock C. Christensen, Susanne Bechstedt, Duane A. Compton   +6 more
doaj   +1 more source

Distinct Effects of Complement C4A and C4B Copy Numbers in Systemic Sclerosis Serological and Clinical Subtypes

Arthritis &Rheumatology, EarlyView.
Objective Complement component 4 (C4), encoded by C4A and C4B within the major histocompatibility complex (MHC) on chromosome 6, regulates the immune response and clears immune complexes. The variable copy number (CN) of C4 genes and retroviral human endogenous retrovirus K (HERV‐K) element influence its function.
Javier Martínez‐López, Carlos Rangel‐Peláez, Inmaculada Rodriguez‐Martin, Alfredo Guillen‐Del‐Castillo, Carmen P Simeón‐Aznar, José L Callejas, Oliver Distler, International SSc Group, P. Carreira, I. Castellvi, R. Ríos, N. Ortego‐Centeno, R. García Portales, A. Fernández‐Nebro, F. J. García‐Hernández, M. A. Aguirre, B. Fernández‐Gutiérrez, L. Rodríguez‐Rodríguez, P. García de la Peña, E. Vicente, J. L. Andreu, M. Fernández de Castro, F. J. López‐Longo, V. Fonollosa, G. Espinosa, C. Tolosa, A. Pros, L. Tío, E. Beltrán, M. Rodríguez Carballeira, F. J. Narváez, M. Rubio Rivas, V. Ortiz‐Santamaría, A. B. Madroñero, M. A. González‐Gay, B. Díaz, L. Trapiella, M. V. Egurbide, P. Fanlo‐Mateo, L. Saez‐Comet, F. Díaz, J. A. Roman‐Ivorra, J. J. Alegre Sancho, M. Freire, F. J. Blanco Garcia, N. Oreiro, T. Witte, G. Riemekasten, P. Airo, C. Magro, M. C. Vonk, R. Hesselstrand, A. Nordin, C. Lunardi, G. Moroncini, A. Gabrielli, A. Hoffmann‐Vold, J. H. W. Distler, Clinical Immunology, L. Padyukov, T. R. D. J. Radstake, G. Orozco, A. Barton, C. Fonseca, PRECISESADs Clinical Consortium, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Miguel Angel González‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Rafaela Ortega‐Castro, M Angeles Aguirre‐Zamorano, Alejandro Escudero‐Contreras, M. Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Susanna M Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), A. Apostolopoulos, G.‐S. Ngian, J. Sahhar, Australia Victoria, N. Ferdowsi, D. Hansen, W. Stevens, L. V. Host, G. Major, A. Quinlivan, L. Ross, M. Tabesh, J. Walker, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K de Vries‐Bouwstra, Ariane L Herrick, Yannick Allanore, Marta E. Alarcon‐Riquelme, Lorenzo Beretta, Shervin Assassi, Christopher P Denton, Maureen D Mayes, Javier Martin, Marialbert Acosta‐Herrera, Martin Kerick   +156 more
wiley   +1 more source

Polycomb protein SCML2 associates with USP7 and counteracts histone H2A ubiquitination in the XY chromatin during male meiosis.

PLoS Genetics, 2015
Polycomb group proteins mediate transcriptional silencing in diverse developmental processes. Sex chromosomes undergo chromosome-wide transcription silencing during male meiosis.
Mengcheng Luo, Jian Zhou, N Adrian Leu, Carla M Abreu, Jianle Wang, Montserrat C Anguera, Dirk G de Rooij, Maria Jasin, P Jeremy Wang   +8 more
doaj   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Agent-based modeling of nuclear chromosome ensembles identifies determinants of homolog pairing during meiosis.

PLoS Computational Biology
During meiosis, pairing of homologous chromosomes (homologs) ensures the formation of haploid gametes from diploid precursor cells, a prerequisite for sexual reproduction.
Ariana Chriss, G Valentin Börner, Shawn D Ryan   +2 more
doaj   +1 more source

APOE genotype and the effect of statins on lipid outcomes: A meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Aim APOE genotype may affect statin therapy response. We conducted a meta‐analysis to update and quantify this association across various outcomes. Methods We searched seven databases (MEDLINE, Scopus, Web of Science, the Cochrane Library, APA PsycINFO, CINAHL Plus and ClinicalTrials.gov) on 9 May 2024.
Innocent G. Asiimwe, Tsegay Gebru, Andrea L. Jorgensen, Munir Pirmohamed, on behalf of the Multimorbidity Mechanism and Therapeutics Research Collaborative   +4 more
wiley   +1 more source

Ultrasmall Fe‐curcumin immunomodulators reinvigorate CAR‐T cells to potentiate solid tumor immunotherapy by mitigating cell exhaustion and senescence

BMEMat, EarlyView.
This work discovered a novel research that ultrasmall Fe‐curcumin immunomodulators could reinvigorate CAR‐T cells to potentiate solid tumor immunotherapy by mitigating cell exhaustion and senescence. Abstract CAR‐T cell immunotherapy has achieved exciting success in hematologic malignancies, but the therapeutic efficacy is relatively limited in solid ...
Jiazhi Duan, Yuchan Xue, Miao Zhang, Zihao Zhang, Shiyu Peng, Minghao Sui, Han Ding, Yingying Nie, Yuemin Feng, Le Wang, Tianru Zhang, Mingchuan Yu, He Xia, Hong Liu, Qiang Zhu, Songbo Zhao   +15 more
wiley   +1 more source

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source