Results 71 to 80 of about 314,978 (365)

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

Advanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, Haiying Zhou, Lihai Gong, Luowei Yuan, Yang Fu, Yulong Qiao, Ying Lam Lui, Nuo Chen, Pengfei Lin, Hoi Hung Cheung, Ho Ko, Linyan Meng, Xiao Chen, Yong Lei, Kin Ming Kwan, Huating Wang, Shen Gu   +18 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Effects of epigenetic age acceleration on kidney function: a Mendelian randomization study

Clinical Epigenetics, 2023
Background Previous studies have reported cross-sectional associations between measures of epigenetic age acceleration (EAA) and kidney function phenotypes. However, the temporal and potentially causal relationships between these variables remain unclear.
Yang Pan, Xiao Sun, Zhijie Huang, Ruiyuan Zhang, Changwei Li, Amanda H. Anderson, James P. Lash, Tanika N. Kelly   +7 more
doaj   +1 more source

FMO2 Promotes Angiogenesis via Regulation of N‐Acetylornithine

Advanced Science, EarlyView.
This study identifies flavin‐containing monooxygenase 2 (FMO2) as a novel proangiogenic regulator in endothelial cells. Targeted FMO2 ablation impairs vessel sprouting, whereas its compensation potently enhances angiogenesis. Metabolomics and single‐cell sequencing reveal that FMO2 drives vascular growth via the N‐acetylornithine/ATF3/NOTCH1 axis ...
Jingyi Wang, Yinghui Xu, Xianpeng Wu, Mo Li, Changchen Xiao, Zaiyang Fu, Yongjian Chen, Qingju Li, Yating Ruan, Jing Zhao, Zhiwei Zhong, Jinghai Chen, Wei Zhu, Jinliang Nan, Cheng Ni, Xinyang Hu   +15 more
wiley   +1 more source

MendelianRandomization v0.9.0: updates to an R package for performing Mendelian randomization analyses using summarized data [version 1; peer review: 2 approved]

Wellcome Open Research, 2023
The MendelianRandomization package is a software package written for the R software environment that implements methods for Mendelian randomization based on summarized data.
Stephen Burgess, Ting Ye, Ashish Patel, Zhaotong Lin, Amy M. Mason, Haoran Xue, Benjamin Woolf, Siqi Xu   +7 more
doaj   +1 more source

Diagnosis, Prognosis, and Drug Target Discovery for Chronic Widespread Pain: A Large Proteogenomic Study

Advanced Science, EarlyView.
Plasma proteomics is leveraged to decode the biological underpinnings of chronic widespread pain. A nested machine learning framework integrates proteomic signatures, prospective outcomes, and Mendelian randomization to uncover 18 causal proteins.
Li Chen, Eoin Kelleher, Ruogu Meng, Duanke Liu, Yuchen Guo, Yunhe Wang, Yaqing Gao, Zhe Huang, Zhu Liang, Shuai Yuan, Chao Zeng, Jun Ma, Yanhui Dong, Anushka Irani, Guanghua Lei, Junqing Xie, Daniel Prieto‐Alhambra   +16 more
wiley   +1 more source

Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

Nature Communications, 2021
Mendelian Randomization approaches are being increasingly refined, but certain statistical limitations hinder their application to GWAS. Here, the authors propose a new Mendelian Randomization method to estimate bi- directional causal effects and ...
Liza Darrous, Ninon Mounier, Zoltán Kutalik   +2 more
doaj   +1 more source

Mechanisms of Mendelian dominance [PDF]

Clinical Genetics, 2017
Genetic dominance has long been considered as a qualitative reflection of interallelic interactions. Dominance arises from many multiple sources whose unifying theme is the existence of non‐linear relationships between the genotypic and phenotypic values.
R.A. Veitia, S. Caburet, J.A. Birchler
openaire   +2 more sources

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X‐Linked Hypophosphatemic Rickets

Advanced Science, EarlyView.
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Huixiao Wu, Wanyi Zhao, Xinyu Chen, Yanzhou Wang, Shuoshuo Wei, Bo Xiang, Yingzhou Shi, Zongyue Li, Yangyang Yao, Jin Xie, Renyuan Qiu, Meng Shu, Shuo Xu, Ping Chen, Zhiying Chen, Yingjie Wu, Weibo Xia, Ling Gao, Yongfeng Song, Jiajun Zhao, Chao Xu   +20 more
wiley   +1 more source

A cyclical switch of gametogenic pathways in hybrids depends on the ploidy level

Communications Biology
The cellular and molecular mechanisms governing sexual reproduction are conserved across eukaryotes. Nevertheless, hybridization can disrupt these mechanisms, leading to asexual reproduction, often accompanied by polyploidy. In this study, we investigate
Dmitrij Dedukh, Anatolie Marta, Ra-Yeon Myung, Myeong-Hun Ko, Da-Song Choi, Yong-Jin Won, Karel Janko   +6 more
doaj   +1 more source