Results 191 to 200 of about 408,908 (290)

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

Advanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo, Jinxiu Li, Adeniyi C. Adeola, Xueyan Jiang, Juntao Ma, Jian Xiao, Dexiang Hu, Kaixing Qu, Haihong Wu, Junren Chen, Zhanxing He, Tingting Yin, Ali Esmailizadeh, Jing Luo, Olivier Hanotte, Ya‐Ping Zhang, Yan Li   +16 more
wiley   +1 more source

Multi-Omics Characterization of a KIF1C Structural Variant in a Patient with a Complex Movement Disorder Partially Responsive to Deep Brain Stimulation. [PDF]

Cerebellum
Thomsen M, Borsche M, Yépez VA, Rasche D, Ullrich KK, Tadic V, Abdelwakeel SM, Busch H, Franzenburg S, Trinh J, Klein C, Lohmann K, Brüggemann N.   +12 more
europepmc   +1 more source

NQO1‐Mediated Anoikis Resistance and Immune Evasion Define a High‐Risk Multi‐Omic Subtype for Precision Management of T1 High‐Grade Bladder Cancer

Advanced Science, EarlyView.
Multi‐omic profiling of T1 high‐grade bladder cancer identifies a high‐risk subtype (T1HG1) driven by NQO1, which couples anoikis resistance with immune evasion. NQO1 orchestrates macrophage–T cell crosstalk suppression via CXCL9 modulation. Pharmacological NQO1 inhibition with skullcapflavone II enhances cisplatin efficacy, representing a promising ...
Bin Guo, Chunru Xu, Shufan Fu, Qiang Cheng, Juan Li, Linkuo Shang, Gaojie Li, Yang Yang, Ying Wang, Yanqing Gong, Shengwei Xiong, Jian Fan, Changwei Yuan, Mei Zhang, Yifan Zuo, Elena Papaleo, Yue Shi, Yuan Liang, Xuesong Li, Hongzhao Li, Weimin Ci   +20 more
wiley   +1 more source

ML-ExonCNV: a robust XGBoost multi-expert ensemble framework for rare exon CNV detection in whole-exome sequencing data. [PDF]

Brief Bioinform
Yang SH, He H, Hou S, Yang T, Yin Z, Zhang HY, Gu W.   +6 more
europepmc   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Defective splicing of Y-chromosome-linked gigantic genes contributes to hybrid male sterility in Drosophila. [PDF]

Mol Biol Evol
Fontan A, Lannes R, Fingerhut JM, Flynn JM, Yamashita YM.   +4 more
europepmc   +1 more source

PAIR: Reconstructing Single‐Cell Open‐Chromatin Landscapes for Transcription Factor Regulome Mapping

Advanced Science, EarlyView.
scATAC‐seq analysis is often constrained by limited sequencing depth, extreme sparsity, and pervasive technical missingness. PAIR is a probabilistic framework that restores scATAC‐seq accessibility profiles by directly modeling the native cell–peak bipartite structure of chromatin accessibility.
Yanchi Su, Qi Qi, Yi Fan, Yubo Wang, Gaoyang Hao, Ka‐Chun Wong, Yunhe Wang, Xiangtao Li   +7 more
wiley   +1 more source

Neuronal differentiation and activity drive nucleocytoplasmic shuttling of the intellectual disability kinase TLK2. [PDF]

Front Cell Neurosci
Nuhu-Soso L, Denton H, Goffin DL, Hahn I, Evans GJO.   +4 more
europepmc   +1 more source

The Landscape and Regulation of Histone Crotonylation in Mammalian Gametes and Early Embryos

Advanced Science, EarlyView.
Histone crotonylation undergoes a genome‐wide transition from broad domains to canonical narrow peaks during minor zygotic genome activation (ZGA). This remodeling is required for proper major ZGA and blastocyst formation. Disruption of this transition by transcriptional inhibition, metabolic perturbation, or HDAC1 dysfunction impairs embryonic ...
Shenli Yuan, Yelian Yan, Yalin Liang, Kanghua Zhong, Zhican Fu, Xiaobo Wang, Chao Liu, Tao Huang, Keliang Wu   +8 more
wiley   +1 more source

Alternative splicing in voltage-gated sodium channels: mechanisms, regulatory networks and therapeutic implications. [PDF]

Ann Med
Qiu J, Wu P, Zhang Y, Li Y, Xia C, Peng S, Sun J.   +6 more
europepmc   +1 more source