Results 111 to 120 of about 191,471 (305)

Key mendelian variants [PDF]

Nature Genetics, 2015
Genetic comparison of the effects of mutant and wild-type alleles is a powerful way to define gene function. But those few disease-causing variants that provide qualitatively different insights into the disease mechanisms of more common sporadic diseases have the greatest translational value.
openaire   +2 more sources

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source

Mendelian randomisation studies for causal inference in chronic obstructive pulmonary disease: A narrative review

Pulmonology
Background and objective Most non-randomised controlled trials are unable to establish clear causal relationships in chronic obstructive pulmonary disease (COPD) due to the presence of confounding factors.
Zizheng Chen, Yuqiong Yang, Chusheng Peng, Zifei Zhou, Fengyan Wang, Chengyu Miao, Xueping Li, Mingdie Wang, Shengchuan Feng, Tingnan Chen, Rongchang Chen, Zhenyu Liang   +11 more
doaj   +1 more source

Genetic drug target validation using Mendelian randomisation

Nature Communications, 2020
Mendelian randomisation (MR) analysis is an important tool to elucidate the causal relevance of environmental and biological risk factors for disease.
A. Schmidt, C. Finan, M. Gordillo-Marañón, F. Asselbergs, D. Freitag, R. Patel, B. Tyl, S. Chopade, Rupert Faraway, M. Zwierzyna, A. Hingorani   +10 more
semanticscholar   +1 more source

Livestock Multi‐Omics Integration: A Systematic Framework From Statistical Association to Causal Interpretation

Advanced Science, EarlyView.
A three‐tier livestock multi‐omics framework resolves four typical analytical pitfalls. Moving from statistical association through machine learning preprocessing to triple‐modal causal inference, it converts omics results into genomic selection and gene editing strategies to achieve One Health, underpinned by multi‐omics data, multimodal sequencing ...
Jiying Wen, Zhongyu Wang, Jieping Huang, Fen Li, Ningbo Chen, Yun Ma   +5 more
wiley   +1 more source

Improving the accuracy of two-sample summary-data Mendelian randomization: moving beyond the NOME assumption

bioRxiv, 2018
Background Two-sample summary data Mendelian randomization (MR) incorporating multiple genetic variants within a meta-analysis framework is a popular technique for assessing causality in epidemiology.
J. Bowden, F. Del Greco M, C. Minelli, Qingyuan Zhao, D. Lawlor, N. Sheehan, John R. Thompson, G. Davey Smith   +7 more
semanticscholar   +1 more source

Conditionally Significant eQTL and TWAS Analyses Identify MsRD26 as a Major Candidate Positive Regulator of Salt Tolerance in Medicago sativa L

Advanced Science, EarlyView.
Salt stress significantly impacts plant growth. Through population transcriptome, eQTL and TWAS analyses, we identified several candidate genes potentially associated with salt stress response. Functional assays suggested that some of these genes may contribute to salt tolerance.
Lin Chen, Yuqi Zhang, Xinyue Ma, Jinpeng Bi, Fei He, Li Zhao, Haiyue Lei, Zhengqin Xiao, Xue Wang, Tiejun Zhang, Ruicai Long, Junmei Kang, Qingchuan Yang   +12 more
wiley   +1 more source

Glucosamine supplementation contributes to reducing the risk of type 2 diabetes: Evidence from Mendelian randomization combined with a meta-analysis

Journal of International Medical Research
Objective Observational studies on glucosamine supplementation and type 2 diabetes risk have shown inconsistent results, necessitating the use of Mendelian randomization to clarify the true causal relationship.
Shuai Zhou, Peiwen Zhou, Tianshi Yang, Junzhuo Si, Wenyan An, Yanfang Jiang   +5 more
doaj   +1 more source

Genomics is modifying our concepts of evolution in homosporous and heterosporous vascular plants

American Journal of Botany, EarlyView.
Abstract Across the tree of life, and particularly within land plants, there is a wide diversity and disparity of genome structure. The most well‐studied are angiosperms, comprising mostly small and dynamic genomes, with a history of ancient whole genome duplications.
Sylvia P. Kinosian
wiley   +1 more source

Shared etiology of Mendelian and complex disease supports drug discovery

BMC Medical Genomics
Background Drugs targeting disease causal genes are more likely to succeed for that disease. However, complex disease causal genes are not always clear. In contrast, Mendelian disease causal genes are well-known and druggable.
Panagiotis N. Lalagkas, Rachel D. Melamed   +1 more
doaj   +1 more source