VARIANTS

作品数：613被引量：1047H指数：14
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Unraveling the role of ufmylation in the brain
《Neural Regeneration Research》2026年第2期667-668,共2页Rita J.Serrano Robert J.Bryson-Richardson 
Ufmylation is an ubiquitin-like post-translational modification characterized by the covalent binding of mature UFM1 to target proteins.Although the consequences of ufmylation on target proteins are not fully understo...
关键词：target proteins post translational modification pediatric neurodevelopmental disorders covalent binding mature ufm target proteinsalthough biallelic loss function ufmylation hypomorphic variants neurodevelopmental disorders 
GEMIN5 and neurodevelopmental diseases: From functional insights to disease perception
《Neural Regeneration Research》2026年第1期187-194,共8页Encarnacion Martinez-Salas Rosario Francisco-Velilla 
partially supported by grants PID2020-115096RB-I00 and PID2023-148273NB-I00 from Ministerio de Ciencia y Universidad (MICIU/AEI)(to EMS)。
GEMIN5 is a predominantly cytoplasmic multifunctional protein, known to be involved in recognizing snRNAs through its WD40 repeats domain placed at the N-terminus. A dimerization domain in the middle region acts as a ...
关键词：Gemin5 variants modular organization neurodevelopmental diseases RNA-binding proteins selective translation structural domains 
Misfolded amyloid-beta conformational variants(strains)as drivers of Alzheimer's disease neuropathology
《Neural Regeneration Research》2025年第11期3219-3220,共2页Salvatore Saieva Rodrigo Morales 
supported by a grant from NIH(R01AI132695)to RM。
Pathological and clinical variability in Alzheimer's disease(AD):AD is clinically cha racterized by progressive memory loss and cognitive impairment.From a pathological point of view,the main features of AD are the de...
关键词：AMYLOID ALZHEIMER clinical 
Breast cancer risk associated with BRCA1 and BRCA2 pathogenic variants in the Eastern Chinese population
《Cancer Pathogenesis and Therapy》2025年第2期147-153,共7页Sanjian Yu Xia Qiu Zezhou Wang Jialong Xiao Hui Jie Hailin Shan Qing Shao Heng Xia Feng Cao Jun Li Cuixia Fu Liqin Chen Xiaofang Lu Tingting Su Qianqian Shengqun Hou Honglian Wang Ying Zheng Zhimin Shao Yun Liu Zhen Hu 
supported by the Shanghai Committee of Science and Technology Funds(No.14441901402);the National Natural Science Foundation of China(No.181972468);the AITA Biomedical Research Institute Breast Cancer Genetic Susceptibility Gene Research Fund.
Background:Population-based penetrance studies of breast cancer gene 1/2(BRCA1/2)pathogenic or likely pathogenic(P/LP)variants in the Eastern Chinese population are currently lacking;thus,we aimed to investigate the p...
关键词：BRCA1/2 gene mutations Breast cancer Chinese population Population-based studies 
Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis:A case report
《Genes & Diseases》2025年第3期57-60,共4页Huaiyuan Wang Shengjie Li Weiyun Chen Jianxiong Shen 
supported by the National Natural Science Foundation of China(No.82272446).
Titin,the largest known protein in nature,is a giant sarcomeric protein that plays essential architectural,developmental,and regulatory roles in striated muscles.Mutations in the TTN gene(MIM:188840)that encodes titin...
关键词：compound heterozygous variants muscle diseases giant sarcomeric protein titinopathies SCOLIOSIS striated musclesmutations TITIN 
Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants
《Genes & Diseases》2025年第3期68-71,共4页Kévin Cassinari Anne Rovelet-Lecrux Céline Derambure Myriam Vezain Sophie Coutant Anne-Claire Richard Nathalie Drouot Juliette Coursimault Gabriella Vera Alice Goldenberg Pascale Saugier-Veber Camille Charbonnier Gaël Nicolas 
the Institutional Review Board of the Rouen University Hospital(CERDE notification E2023-65).
Cornelia de Lange Syndrome(CdLS)is an intellectual disability syndrome characterized by distinctive clinical features including growth retardation,limb malformation,and a characteristic facial dysmorphism.1 Six genes,...
关键词：gene expression regulation growth retardationlimb mau protein levels nipbl pathogenic variants facial dysmorphism transcriptomic consequences organizing chromatin intellectual disability syndrome 
Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population
《International Journal of Ophthalmology(English edition)》2025年第5期846-852,共7页Asghar Shayannia Kobra Foroughi Mohammad Hassan Emamian Hassan Hashemi Akbar Fotouhi 
Supported by the Noor Ophthalmology Research Center and Shahroud University of Medical Sciences(No.9449);Shahroud University of Medical Sciences(No.9449);Shahroud Eye Cohort Study is supported by the Noor Ophthalmology Research Center and Shahroud University of Medical Sciences(No.8737).
AIM:To examine whether rs2472493 and rs248032 in the ABCA1 gene,rs3785176 in the PMM2 gene,and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma(POAG)in an Iranian population.METHODS:Totally 82...
关键词：ABCA1 PMM2 ARHGEF12 rs2472493 rs248032 rs3785176 rs11827818 Iran primary open angle glaucoma 
Investigation of high-mobility group box 1 variants with lymph node status and colorectal cancer risk
《World Journal of Gastrointestinal Oncology》2025年第4期67-80,共14页Xin Liu Sheng Zhang Hao Qiu Zhi-Qiang Xie Wei-Feng Tang Yu Chen Xi Wei 
Supported by the Major Project of Changzhou Science and Technology Bureau,No.CJ20220255.
BACKGROUND Accumulating studies indicated that maintain nuclei homeostasis was deemed to the protective factors for the occurrence of cancer.Thus,high-mobility group box 1(HMGB1)might influence the risk and poorer pro...
关键词：High-mobility group box 1 Colorectal cancer POLYMORPHISM Immune Lymph nodes metastasis 
Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia
《Asian Journal of Andrology》2025年第2期268-275,共8页Hao-Wei Bai Na Li Yu-Xiang Zhang Jia-Qiang Luo Ru-Hui Tian Peng Li Yu-Hua Huang Fu-Rong Bai Cun-Zhong Deng Fu-Jun Zhao Ren Mo Ning Chi Yu-Chuan Zhou Zheng Li Chen-Cheng Yao Er-Lei Zhi 
supported by the National Key Research and Development Program of China(2022YFC2702700);the National Natural Science Foundation of China(No.82171586);Inner Mongolia Academy of Medical Sciences Public Hospital Joint Science and Technology Project(2023GLLH0045);Specific Project of Shanghai Jiao Tong University for“Invigorating Inner Mongolia through Science and Technology”(2022XYJG001-01-19).
Nonobstructive azoospermia(NOA),one of the most severe types of male infertility,etiology often remains unclear in most cases.Therefore,this study aimed to detect four biallelic detrimental variants(0.5%)in the minich...
关键词：genetic variant MCMDC2 meiotic arrest nonobstructive azoospermia 
De novo missense variants of UNC13A are implicated in epileptic encephalopathies and neurodevelopmental disorders
《Genes & Diseases》2025年第2期52-56,共5页Ke Su Yu Ma Mingshan Zhou Yihan Liu Chengjie Li Yonghui Jiang Qihui Wu Gang Peng Yi Wang Shaohua Fan 
supported by the National Key Research and Development Program of China (No.2020YFE0201600,2021YFC2500202 to S.F.,2018YFA0801000 to G.P.);the National Natural Science Foundation of China (No.31970563,32370686 to S.F.,82101486 to Q.W.);the China's 111 Project (No.B13016 to S.F.);the Shanghai Municipal Science and Technology Commission (China) (No.19410741100 to S.F.);the Science and Technology Innovation Plan of Shanghai Science and TechnologyCommission (China) (No.22ZR1414000 to G.P.);the Shanghai Municipal Science and Technology Major Project (No.2018SHZDZX01 to G.P.,2017SHZDZX01 to S.F.);ZJ Lab,and the Shanghai Center for Brain Science and Brain-lnspired Technology (China);the Shanghai Fourth People's Hospital affiliated to Tongji University School of Medicine (No.sykyqd02301 to Q.W.);the Fundamental Research Funds for the Central Universities (China);the Shanghai Pujiang Program (China) (No.21PJ1412100 to Q.W.);the Ningxia Hui Autonomous Region Key Research and Development Project (China) (No.2022BFH02012 to Q.W.);the Science and Technology Commissionof ShanghaiMunicipality,China (No.23ZR1467900 to Q.W.).
Epilepsy is a prevalent and serious neurological disorder affecting more than 65 million individuals worldwide.The etiology of epilepsy is multifaceted,with genetic factors implicated in 70%-80%of epilepsy cases,based...
关键词：EPILEPSY ETIOLOGY CASES 
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