Results 141 to 150 of about 116,201 (208)

The Dynamics of the ESCRT Machinery in Open Mitosis from Physiology to Pathology. [PDF]

Cells
La Torre M, Cannistrà F, Burla R, Saggio I.   +3 more
europepmc   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

HEIP1 orchestrates pro-crossover protein activity during mammalian meiosis. [PDF]

Proc Natl Acad Sci U S A
De Muyt A, Lee S, Khanal S, Dal Toe L, Adam C, Mercier R, Borde V, Hunter N, Robert T.   +8 more
europepmc   +1 more source

SOX30 Governs Synaptonemal Complex Assembly and Homologous Recombination in Male Meiosis

Cell Proliferation, EarlyView.
The transcription factor SOX30 directly binds promoter regions of SYCE1 and SYCE2 to mediate their transcriptional activation, thereby enabling proper assembly of central elements within the synaptonemal complex. Structural destabilisation of the synaptonemal complex in Sox30 KK spermatocytes triggers synaptic discontinuity, impairs homologous ...
Kangle Liu, Wenfeng Zhang, Xiao Jiang, Jianping Chen, Lei Zhu, Zhonghao Zhang, Jing Gu, Lulu Guo, Lin Ao, Qing Chen, Lei Sun, Yuhan Hu, Xin Wang, Yaxin Liu, Jia Cao, Fei Han, Jinyi Liu   +16 more
wiley   +1 more source

Eph-ephrin signaling and its potential role in female reproductive tract development. [PDF]

Mol Biol Rep
Prasun P.
europepmc   +1 more source

Downregulation of MLL1 Promotes Intestinal Epithelial Barrier Repair Through Gata4/Bmp4 Activation to Ameliorate Crohn's Disease‐Like Colitis in Mice

Cell Proliferation, EarlyView.
This study elucidates the pivotal regulatory role and mechanism of MLL1 in inflammatory bowel disease. Experimental data demonstrated elevated MLL1 expression levels in TNBS‐induced murine colitis models, with pharmacological inhibition of MLL1 significantly promoting recovery from CD‐like colitis by accelerating intestinal barrier restoration ...
Xue Song, Jing Li, Yue Chen, Bohan Li, Yi Yang, Xiaofan Guan, Xiaofeng Zhang, Lu Tao, Zhijun Geng, Lugen Zuo, Yueyue Wang, Lian Wang, Jianguo Hu   +12 more
wiley   +1 more source

Immunofluorescent microscopy to quantify and characterize chromosomal instability (CIN). [PDF]

Methods Cell Biol
Jones KM, Choi Y, Leelasukseree R, Messick NN, Bryan A, Bice S, Cosper PF.   +6 more
europepmc   +1 more source

Behind the scenes: how the EMILIN/Multimerin family shapes the cancer landscape

The FEBS Journal, EarlyView.
The EMILIN/Multimerin family members regulate key hallmarks of cancer—including apoptosis, angiogenesis, metastasis, and tumor microenvironment remodeling. As indicated, their function in immune evasion, drug resistance, and metabolic reprogramming remains largely unexplored.
Evelina Poletto, Naike Casagrande, Emanuele Di Siena, Greta Carobolante, Lucrezia Camicia, Giorgia Schinello, Samanta Muzzin, Enrica Timis, Paola Spessotto, Maurizio Mongiat   +9 more
wiley   +1 more source

Paclitaxel-induced germline DNA-damage signatures independent of mismatch repair in <i>C. elegans</i>. [PDF]

Front Pharmacol
Hong Y, Liu Z, Kim HM.
europepmc   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source