Results 131 to 140 of about 314,978 (365)

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction

ESC Heart Failure, Volume 12, Issue 2, Page 1474-1478, April 2025.
Abstract Aims ZSF1 obese rats harbouring two mutant leptin receptor alleles (Leprcp and Leprfa) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research.
Petra Büttner, Antje Augstein, Mahmoud Abdellatif, André Lourenço, Adelino Leite‐Moreira, Inês Falcão‐Pires, Sarah Werner, Holger Thiele, Simon Sedej, Antje Schauer, Volker Adams   +10 more
wiley   +1 more source

Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic

International Journal of Epidemiology, 2016
Background: MR-Egger regression has recently been proposed as a method for Mendelian randomization (MR) analyses incorporating summary data estimates of causal effect from multiple individual variants, which is robust to invalid instruments.
J. Bowden, F. Del Greco M, C. Minelli, G. Davey Smith, N. Sheehan, J. Thompson   +5 more
semanticscholar   +1 more source

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Frontiers in Neurology, 2018
Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing, large scale data analysis, and data sharing/matchmaking, have discovered a quickly expanding ...
Dana M. Bis-Brewer, Dana M. Bis-Brewer, Stephan Züchner, Stephan Züchner   +3 more
doaj   +1 more source

Mitochondrial DNA copy number is associated with Crohn’s disease: a comprehensive Mendelian randomization analysis [PDF]

, 2023
Xianlei Cai, Xueying Li, Chao Liang, Miaozun Zhang, Yuan Xu, Zhebin Dong, Yihui Weng, Weiming Yu   +7 more
openalex   +1 more source

Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics

bioRxiv, 2019
Mendelian randomization (MR) is a valuable tool for detecting causal effects by using genetic variant associations. Opportunities to apply MR are growing rapidly with the increasing number of genome-wide association studies (GWAS).
J. Morrison, Nicholas W. Knoblauch, Joseph H. Marcus, M. Stephens, Xin He   +4 more
semanticscholar   +1 more source

Causal correlations between inflammatory proteins and heart failure: A two‐sample Mendelian randomization analysis

ESC Heart Failure, Volume 12, Issue 2, Page 1374-1385, April 2025.
Abstract Aims Inflammation plays a critical role in both the development and progression of heart failure (HF), which is a leading cause of morbidity and mortality worldwide. However, the causality between specific inflammation‐related proteins and HF risk remains unclear.
Xian‐Guan Zhu, Gui‐Qin Liu, Ya‐Ping Peng, Li‐Ling Zhang, Xian‐Jin Wang, Liang‐Chuan Chen, Yuan‐Xi Zheng, Xue‐Jun Xiang, Rui Qiao, Xian‐He Lin   +9 more
wiley   +1 more source

Bias due to participant overlap in two‐sample Mendelian randomization [PDF]

, 2016
Stephen Burgess, Neil M Davies, Simon G. Thompson   +2 more
openalex   +1 more source

An examination of multivariable Mendelian randomization in the single-sample and two-sample summary data settings

bioRxiv, 2018
Background Mendelian Randomisation (MR) is a powerful tool in epidemiology which can be used to estimate the causal effect of an exposure on an outcome in the presence of unobserved confounding, by utilising genetic variants that are instrumental ...
E. Sanderson, G. Davey Smith, F. Windmeijer, J. Bowden   +3 more
semanticscholar   +1 more source

Inflammation and genetics in myo‐pericardial diseases: Insights from the Italian Study Group on Cardiomyopathies and Pericardial Diseases

ESC Heart Failure, EarlyView.
Proposed management of myo‐pericardial diseases. A systematic interdisciplinary approach to myo‐pericardial disease is essential to reach a correct diagnosis, starting from multiparametric characterization including EKG, echocardiography with GLS, laboratory exams and CMR or, in case of electric or haemodynamic instability, EMB.
Marco Merlo, Giulia Bassetto, Antonio Cannatà, Alberto Aimo, Camillo Autore, Barbara Bauce, Elena Biagini, Francesco Cappelli, Silvia Castelletti, Flavio D'Ascenzi, Cesare de Gregorio, Giuseppe Limongelli, Francesca Marzo, Beatrice Musumeci, Giacomo Tini, Roberto Pedrinelli, Pasquale Perrone Filardi, Gianfranco Sinagra, Massimo Imazio   +18 more
wiley   +1 more source