Results 111 to 120 of about 606,407 (214)

Functional study of a novel RHD variant IVS4+2delT leading to RhD-negative phenotype

Zhongguo shuxue zazhi
[Objective] To investigate the effect of a novel RHD genotype (RHD∗01N.01/RHD∗01.01 with IVS4+ 2delT mutation)on the RhD phenotype through in vitro experiments in a case with a serologically RhD-negative phenotype.
HAO Xiao, LI Ruirui, ZHANG Lu, YANG Yongchun   +3 more
doaj   +1 more source

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.

, 2009
Splicing mutations occurring outside the invariant GT and AG dinucleotides are frequent in disease genes and the definition of their pathogenic potential is often challenging.
Mercuri E, D'Amico A, Fabris M, Grumati P, Neri M, Merlini L, Gualandi F, Bertini E, Bovolenta M, Sabatelli P, Urciuolo A, Martoni E, Ferlini A, Pane M, Bonaldo P   +14 more
core   +2 more sources

SF3B1 mutation accelerates the development of CLL via activation of the mTOR pathway

JCI Insight
RNA splicing factor SF3B1 is one of the most recurrently mutated genes in chronic lymphocytic leukemia (CLL) and frequently co-occurs with chromosome 13q deletion [del(13q)].
Bo Zhang, Prajish Iyer, Meiling Jin, Elisa Ten Hacken, Zachary J. Cartun, Kevyn L. Hart, Mike Fernandez, Kristen Stevenson, Laura Rassenti, Emanuela M. Ghia, Thomas J. Kipps, Donna Neuberg, Ruben Carrasco, Wing C. Chan, Joo Y. Song, Yu Hu, Catherine J. Wu, Lili Wang   +17 more
doaj   +1 more source

Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson’s disease pedigrees

Frontiers in Genetics
IntroductionWilson’s disease (hepatolenticular degeneration) is a common hereditary neurological disorder. Early diagnosis, particularly the widespread implementation of genetic testing and timely intervention, is crucial for improving the prognosis of ...
Qi Zhang, Qi Zhang, Xiaoming Xie, Hairong Li, Yulei Li, Hongyao Huang, Hongyao Huang   +6 more
doaj   +1 more source

SPSB1 Promotes Subcutaneous Adipose Hyperplasia in Facial Port‐Wine Stains by Controlling HDAC1 Degradation and Stability Through Two Distinct Proteolytic Pathways

Advanced Science, EarlyView.
In PWS‐ASPCs, FOSL1 drives the expression of SPSB1. SPSB1, as part of the ESC complex, further binds to HDAC1 and promotes K29‐linked and K48‐linked polyubiquitination of HDAC1. These modifications facilitate the degradation of HDAC1 through the ALP and UPS pathways, respectively.
Hongrui Chen, Bin Sun, Yajing Qiu, Chen Hua, Xiaoxi Lin, Wei Gao   +5 more
wiley   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

RNA trans-splicing to rescue β-catenin: A novel approach for treating CTNNB1-Haploinsufficiency disorder

Molecular Therapy: Nucleic Acids
Loss-of-function mutations in the CTNNB1 gene cause β-catenin deficiency, resulting in CTNNB1 syndrome, a rare neurodevelopmental disorder characterized by motor and cognitive impairments.
Matea Maruna, Petra Sušjan-Leite, Maja Meško, Špela Miroševič, Roman Jerala   +4 more
doaj   +1 more source

Pasta, a Versatile Transcriptomic Clock, Maps the Chemical and Genetic Determinants of Aging and Rejuvenation

Advanced Science, EarlyView.
Pasta is a transcriptomic aging clock built on an age‐shift learning framework and trained on 17 000 samples across 21 datasets. It accurately predicts relative biological age across tissues, platforms, and species, captures stemness‐to‐senescence transitions, and identifies age‐modulatory perturbations.
Jérôme Salignon, Maria Tsiokou, Patricia Marqués, Enriqueta Rodríguez‐Diaz, Hazel Ang, Federico Pietrocola, Christian G. Riedel   +6 more
wiley   +1 more source

The IRE1‐XBP1s Axis Drives Inflammatory Osteolysis by Regulating a 5‐HT Dependent Endogenous Anti‐Autophagy Mechanism

Advanced Science, EarlyView.
A previously unrecognized IRE1‐XBP1s‐Slc6a4 signaling axis links endoplasmic reticulum stress to serotonin metabolism, autophagy, and inflammatory osteoclastogenesis. By promoting intracellular serotonin uptake and reducing endogenous 3‐methyladenine accumulation, this pathway accelerates inflammatory bone destruction and provides a promising ...
Pengchao Yang, Binxiang Zhu, Yuzhi He, Yang Tian, Honglei Kang, Shian Hu, Pengju Wang, Yong Xu, Zhuowei Lei, Peijun Qi, Hao Yang, Yang Lin, Yimin Dong, Feng Li, Hanfeng Guan   +14 more
wiley   +1 more source