Results 41 to 50 of about 4,310,301 (302)

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source

Causal relationship among obesity and body fat distribution and epilepsy subtypes

Frontiers in Neurology, 2022
ObjectiveThe observational studies indicate an association between obesity and epilepsy, but it is unclear whether such an association responds to causality.
Kaiping Zhou, Huan Yang, Ruomeng Chen, Weiping Wang, Zhenzhen Qu   +4 more
doaj   +1 more source

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022
Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, Konrad Platzer, Bernt Popp, Rami Abou Jamra   +5 more
wiley   +1 more source

Association between gut microbiota and preeclampsia-eclampsia: a two-sample Mendelian randomization study

BMC Medicine, 2022
Background Several recent observational studies have reported that gut microbiota composition is associated with preeclampsia. However, the causal effect of gut microbiota on preeclampsia-eclampsia is unknown. Methods A two-sample Mendelian randomization
Pengsheng Li, Haiyan Wang, Lan Guo, Xiaoyan Gou, Geng-dong Chen, Dongxin Lin, D. Fan, Xiaoling Guo, Zheng-ping Liu   +8 more
semanticscholar   +1 more source

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source

Statistical Methods for cis-Mendelian Randomization with Two-sample Summary-level Data [PDF]

arXiv, 2021
Mendelian randomization is the use of genetic variants to assess the existence of a causal relationship between a risk factor and an outcome of interest. Here, we focus on two-sample summary-data Mendelian randomization analyses with many correlated variants from a single gene region, and particularly on cis-Mendelian randomization studies which use ...
arxiv  

MendelianRandomization: an R package for performing Mendelian randomization analyses using summarized data

International Journal of Epidemiology, 2017
MendelianRandomization is a software package for the R open-source software environment that performs Mendelian randomization analyses using summarized data.
Olena Yavorska, S. Burgess
semanticscholar   +1 more source

The effects of coagulation factors on the risk of endometriosis: a Mendelian randomization study

BMC Medicine, 2023
Background Endometriosis is recognized as a complex gynecological disorder that can cause severe pain and infertility, affecting 6–10% of all reproductive-aged women.
Yan Li, Hongyan Liu, Shuting Ye, Bumei Zhang, Xiaopei Li, Jiapei Yuan, Yongrui Du, Jianmei Wang, Yang Yang   +8 more
semanticscholar   +1 more source

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

VariantAlert: A web‐based tool to notify updates in genetic variant annotations

Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022
Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva   +3 more
wiley   +1 more source