Results 121 to 130 of about 236,698 (345)

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

Haematologica, 2013
Heterozygosity for dominant-negative STAT1 mutations underlies autosomal dominant Mendelian susceptibility to mycobacterial diseases. Mutations conferring Mendelian susceptibility to mycobacterial diseases have been identified in the regions of the STAT1
Osamu Hirata, Satoshi Okada, Miyuki Tsumura, Reiko Kagawa, Mizuka Miki, Hiroshi Kawaguchi, Kazuhiro Nakamura, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Yoshihiro Takihara, Masao Kobayashi   +10 more
doaj   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

Yunweiling alleviates functional constipation: integrating network pharmacology and experimental study

Animal Models and Experimental Medicine, EarlyView.
In a study combining network pharmacological analysis and experimental verification, yunweiling has been shown improve functional constipation by inhibiting the PI3K‐Akt‐p53 signaling pathway and reducing the expression of TP53. Abstract Background This study investigated the impacts and mechanisms of yunweiling in the management of Functional ...
Peng Zhang, Wei Li, Weiwen Zheng, Jinwen Liu, Nuonan She, Xia Chen, Weibo Wen   +6 more
wiley   +1 more source

The causal relationship between obesity and IgA nephropathy: a Mendelian randomization study

Linchuang shenzangbing zazhi
ObjectiveTo explore the potential causal relationship between obesity and IgA nephropathy through Mendelian randomization. MethodsSummary-level data from genome-wide association studies of obesity-related shapes (body mass index, percentage body fat ...
Peng-tao Dong, Zheng Wang, Xiao-yu Li, Qing Zhang   +3 more
doaj   +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  

Robust instrumental variable methods using multiple candidate instruments with application to Mendelian randomization [PDF]

arXiv, 2016
Mendelian randomization is the use of genetic variants to make causal inferences from observational data. The field is currently undergoing a revolution fuelled by increasing numbers of genetic variants demonstrated to be associated with exposures in genome-wide association studies, and the public availability of summarized data on genetic associations
arxiv  

Longitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by altered metabolome and energy homeostasis, manifesting with body mass index changes and hypermetabolism—both prognostic of disease progression and survival.
Kai Guo, Masha G. Savelieff, Dae‐Gyu Jang, Samuel J. Teener, Lili Zhao, Junguk Hur, Stephen A. Goutman, Eva L. Feldman   +7 more
wiley   +1 more source

Addressing the credibility crisis in Mendelian randomization

BMC Medicine
Background Genome-wide association studies have enabled Mendelian randomization analyses to be performed at an industrial scale. Two-sample summary data Mendelian randomization analyses can be performed using publicly available data by anyone who has ...
Stephen Burgess, Benjamin Woolf, Amy M. Mason, Mika Ala-Korpela, Dipender Gill   +4 more
doaj   +1 more source

Extending the MR-Egger method for multivariable Mendelian randomization to correct for both measured and unmeasured pleiotropy [PDF]

arXiv, 2017
Methods have been developed for Mendelian randomization that can obtain consistent causal estimates while relaxing the instrumental variable assumptions. These include multivariable Mendelian randomization, in which a genetic variant may be associated with multiple risk factors so long as any association with the outcome is via the measured risk ...
arxiv  

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia

Annals of Neurology, EarlyView.
UNC13A (rs12608932‐CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients with FTD from Dutch memory clinics, including a subcohort of 150 patients with TDP‐43 pathology. Survival analyses
Lianne M. Reus, Sean W. Willemse, Sterre C.M. de Boer, Julie De Houwer, Willem L. Hartog, Merel O. Mol, Jeroen G. J. van Rooij, Niccolo Tesi, Laura Donker Kaat, Marc Hulsman, Everard G. B. Vijverberg, Henne Holstege, Wouter van Rheenen, Jan H. Veldink, Leonard H. van den Berg, John C. van Swieten, H. Seelaar, Sven J. van der Lee, Michael A. van Es, Yolande A. L. Pijnenburg   +19 more
wiley   +1 more source