Results 121 to 130 of about 895,255 (269)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Fetal Y chromosome abnormalities cause false-low fetal fraction in NIPT: a retrospective analysis of 24,101 pregnant women. [PDF]

Front Genet
Hu S, Zhou L, Xu Y, Wu W, Jiang N, Hao Y, Zhang H, Liu Y, Wu W, Wu B, Liu W.   +10 more
europepmc   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

RenSeq-derived SNPs used in mapping resistance to <i>Phytophthora sojae</i> and three <i>Pythium</i> spp. in multiple soybean RIL populations. [PDF]

Mol Breed
Clevinger EM, Biyashev R, Hodge B, Robertson AE, McHale LK, Dorrance AE, Saghai Maroof MA.   +6 more
europepmc   +1 more source

Evolution of a ZW sex determination system in sticklebacks. [PDF]

Sci Adv
Cheng X, Zou M, Wang Y, Wang Y, Li X, Zhang H, Wang C, Merilä J, Guo B.   +8 more
europepmc   +1 more source

Inhibition of IGFBP4 in Granulosa Cells Improves Reproductive Performance and Maintains Fertility With Age via YAP Signaling

Advanced Science, EarlyView.
IGFBP4 is upregulated in granulosa cells of aged ovaries across monkeys, mice, and humans. It inhibits YAP signaling, thereby suppressing cell proliferation and contributing to follicular dysfunction. Deletion of Igfbp4 in granulosa cells enhances ovulatory output, improves hormone profiles, and reproductive performance in aged female mice, suggesting ...
Qianhui Hu, Ajun Geng, Ziyuan Li, Fanghao Guo, Jingqiang Wang, Xinyi Chen, Meiling Zhang, Yi Arial Zeng, Wen Li   +8 more
wiley   +1 more source

Publisher Correction: Functional interplay between condensin I and topoisomerase IIα in single-molecule DNA compaction

Nature Communications
Yuko Tsubota, Keishi Shintomi, Kazuhisa Kinoshita, Yuki Masahara-Negishi, Yuuki Aizawa, Masami Shima, Tatsuya Hirano, Tomoko Nishiyama   +7 more
doaj   +1 more source

Profiling cell proliferation after whole-genome duplication in human cells. [PDF]

Biol Open
Yang G, Inoko M, Ogura K, Ishida-Ishihara S, Tsukada Y, Funahashi A, Sato M, Uehara R.   +7 more
europepmc   +1 more source

A Pentaradial and Bilateral Combined Photoreception System in the Sea Cucumber is Mediated by a Blue Light‐Sensitive R‐Opsin

Advanced Science, EarlyView.
The sea cucumber Holothuria leucospilota detects blue and adjacent wavelengths of light via an r‐opsin with a maximum absorption at 459 nm. In the oral tentacles, papillae, and tube feet, distinct light‐sensing structures with specialized morphologies are formed, constituting a unique pentaradial and bilateral combined photoreception system.
Jiasheng Huang, Chunhua Ren, Zhou Qin, Yimeng Cui, Bingbing Zhang, Peng Luo, Xuan Wang, Yaoqi Xie, Xin Zhang, Aifen Yan, Yang Zhang, Dingding Fan, Yang Liu, Wenjie Pan, Xiao Jiang, Lihong Yuan, Haipeng Qin, David M. Irwin, Chaoqun Hu, Yang Liu, Ting Chen   +20 more
wiley   +1 more source

Chromosome segregation in a minimal bacterial cell driven by SMC protein complexes. [PDF]

Protein Sci
Maytin AK, Gilbert BR, Luthey-Schulten Z.   +2 more
europepmc   +1 more source