Results 251 to 260 of about 178,325 (322)

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Molecular basis of ParA ATPase activation by the CTPase ParB during bacterial chromosome segregation

Schnabel L, Osorio-Valeriano M, Perez-Borrajero C, Steinchen W, Mais C, Simon B, Hanßmann J, Thamm M, Hennig J, Bange G, Thanbichler M.   +10 more
europepmc   +1 more source

Meiosis-specific functions of kinetochore protein SPC105R required for chromosome segregation in Drosophila oocytes. [PDF]

Mol Biol Cell
Joshi JN, Changela N, Mahal L, Jang J, Defosse T, Wang LI, Das A, Shapiro JG, McKim K.   +8 more
europepmc   +1 more source

Multipla: Multiscale Pangenomic Locus Analysis

Computer Graphics Forum, EarlyView.
Abstract Comparing gene organization across genomic sequences reveals insights into evolutionary and functional diversity among different organisms and varieties. Performing this task across many sequences, such as from a pangenome, is challenging because of the scale, the density of information, and the inherent variation. Often, analyses are centered
A. van den Brandt, E. Ståhlbom, F.J.M. van Workum, H. van de Wetering, C. Lundström, S. Smit, A. Vilanova   +6 more
wiley   +1 more source

Sgo1 interacts with CENP-A to guide accurate chromosome segregation in mitosis. [PDF]

J Mol Cell Biol
Wu F, Akbar H, Wang C, Yuan X, Dou Z, Mullen M, Niu L, Zhang L, Zang J, Wang Z, Yao X, Song X, Liu X.   +12 more
europepmc   +1 more source

CTCF Point Mutation at R567 Disrupts Mouse Heart Development via 3D Genome Rearrangement and Transcription Dysregulation

Cell Proliferation, Volume 58, Issue 4, April 2025.
The CtcfR567W/R567W mutation disrupted the TAD structure specific to cardiac genes and reduced the interaction between the promoter of cardiac‐specific gene and its enhancer, finally causing the cardiac morphological abnormalities during mouse embryonic development.
Huawei Ren, Hongxin Zhong, Jie Zhang, Yuli Lu, Gongcheng Hu, Weixun Duan, Ning Ma, Hongjie Yao   +7 more
wiley   +1 more source

Acetylation of Rec8 cohesin complexes regulates reductional chromosome segregation in meiosis. [PDF]

Life Sci Alliance
Li Z, Liu Y, Jones AW, Watanabe Y.
europepmc   +1 more source

Mitochondrial Mutation Leads to Cardiomyocyte Hypertrophy by Disruption of Mitochondria‐Associated ER Membrane

Cell Proliferation, EarlyView.
Cardiomyocytes with high m.3243A>G burden exhibited hypertrophic phenotype. Mitochondria dysfunction occurred and tended to become round in cardiomyocytes with high m.3243A>G burden. Mitochondria‐associated ER membrane (MAM) was disrupted in cardiomyocytes with high m.3243A>G burden.
Miao Yu, Min Song, Manna Zhang, Shuangshuang Chen, Baoqiang Ni, Xuechun Li, Wei Lei, Zhenya Shen, Yong Fan, Jianyi Zhang, Shijun Hu   +10 more
wiley   +1 more source

Aurora B promotes the CENP-T-CENP-W interaction to guide accurate chromosome segregation in mitosis. [PDF]

J Mol Cell Biol
Liu W, Dou Z, Wang C, Zhao G, Wu F, Wang C, Aikhionbare F, Ye M, Sedzro DM, Yang Z, Fu C, Wang Z, Gao X, Yao X, Song X, Liu X.   +15 more
europepmc   +1 more source

Testis‐Specific PDHA2 Is Required for Proper Meiotic Recombination and Chromosome Organisation During Spermatogenesis

Cell Proliferation, EarlyView.
PDHA2, a testis‐specific subunit of pyruvate dehydrogenase, is required for the conversion of pyruvate to acetyl‐CoA. Its absence results in decreased acetyl‐CoA and precursors for metabolites and energy during spermatogenesis. This results in decreased histone acetylation, defective chromosome structure and moderately reduced crossovers, ultimately ...
Guoqiang Wang, Kailun Fang, Yongliang Shang, Xu Zhou, Qiqi Shao, Si Li, Ping Wang, Charlie Degui Chen, Liangran Zhang, Shunxin Wang   +9 more
wiley   +1 more source