Results 161 to 170 of about 255,773 (233)

Widespread naturally variable human exons aid genetic interpretation. [PDF]

Nat Commun
Jacobs HN, Gorissen BL, Guez J, Kanai M, Gupta K, Finucane HK, Karczewski KJ, Burge CB.   +7 more
europepmc   +1 more source

F‐Box and Leucine‐Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity and Cardiac Function by Enhancing K48‐Linked Ubiquitinated Degradation of Profilin‐1 (PFN1)

Advanced Science, EarlyView.
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li, Xueqi He, Xinyuan Hao, Yu Zhang, Xin Zhao, Shuang Wang, Zhenru Wang, Haonan Du, Hongda Li, Lian Yi, Zhimin Du, Weijie Du   +11 more
wiley   +1 more source

Correction: Genome-wide identification and functional characterization of the two-component system gene family in petunia reveals roles in hormone signaling and stress response. [PDF]

Front Plant Sci
Dai B, Huo J, Zhang L, Zou P, Sun M, Dai S, Liu G.   +6 more
europepmc   +1 more source

Tobacco Smoke Exposure From Prenatal To Adolescent Periods Drives IBD Pathogenesis: Dynamic DNA Methylation Signatures Across Lifespan Stages

Advanced Science, EarlyView.
This study illustrates that maternal smoking during pregnancy (MSDP) is an independent risk factor for IBD in offspring, and DNA methylation serves as a key mechanistic pathway connecting early‐life smoking exposure with IBD risk in offspring. That highlights the urgent need for preventive interventions targeting prospective parents and minors to ...
Han Zhang, Jianhui Zhao, Jie Chen, Xinyi Ma, Siyun Zhou, Alexandra Noble, Rahul Kalla, Judith Wellens, Kun Liu, Evropi Theodoratou, Jack Satsangi, Xue Li   +11 more
wiley   +1 more source

Spatially Resolved Multiomics Reveals Metabolic Remodeling and Autophagy Activation in Adamantinomatous Craniopharyngiomas

Advanced Science, EarlyView.
Multiomics integration analysis reveals the “cystic fluid–tumor cell” metabolic coupling that mediates active choline/ethanolamine uptake of tumor cells from cystic fluid and PC/PE synthesis pathways reprogramming that mediating autophagy pathway activation within ACP. ABSTRACT Adamantinomatous craniopharyngioma (ACP), a benign yet highly recurrent and
Dongting Chen, Yahui Gao, Yulin Wang, Ting Lei, Zheng Qu, Yuhan An, Jiaxu Fu, Xin Li, Fangjun Liu, Yan Li   +9 more
wiley   +1 more source

Big Tau: Structure, Evolutionary Divergence, and Emerging Roles in Cytoskeletal Dynamics and Tauopathies. [PDF]

Cells
Fischer I, Baas PW.
europepmc   +1 more source

Genome‐Wide Association Study Reveals Insect Genetics and Microbial Symbiont Effects on Susceptibility of Diaphorina citri to the Citrus Greening Pathogen, Candidatus Liberibacter Asiaticus

Advanced Science, EarlyView.
This study investigates the genetic and microbial factors influencing the susceptibility of Diaphorina citri to the citrus greening pathogen Candidatus Liberibacter asiaticus (CLas), employing a microbiome Genome Wide Association Study. The research identifies a key gene encoding an MFS‐type transporter contributing to CLas infectivity and abundance in
Kai Liu, Qingcui He, Zeyue Lin, Shixuan Huang, Zichun Zhong, Pingyang Zhu, Mengge Gao, Luyao Zhao, Han Jin, Guiting Wu, Gurr M. Geoff, Qunxin Han, Rui Pang   +12 more
wiley   +1 more source

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review. [PDF]

Front Pediatr
Cheng P, Wang G, Qiu J, Xie X, An Y.
europepmc   +1 more source

NanoLoop: A Deep Learning Framework Leveraging Nanopore Sequencing for Chromatin Loop Prediction

Advanced Science, EarlyView.
Chromatin loops are central to gene regulation and 3D genome organization. Leveraging Nanopore sequencing's ability to jointly capture DNA sequence and methylation, we present NanoLoop, the first framework for genome‐wide chromatin loop prediction using Nanopore data.
Wenjie Huang, Li Tang, Matthew C. Hill, Yonghao Zhang, Jun Xie, Min Li   +5 more
wiley   +1 more source

Statistical Genetics of DMD Gene Mutations in a Kazakhstan Cohort: MLPA/NGS Variant Validation and Genotype-Phenotype Modelling. [PDF]

Genes (Basel)
Moldakaryzova A, Dautov D, Khaidarov S, Ossikbayeva S, Kaidarova D.   +4 more
europepmc   +1 more source