Results 151 to 160 of about 7,037 (201)

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

Sparse polygenic risk score inference with the spike-and-slab LASSO. [PDF]

Bioinformatics
Song J, Zabad S, Yang A, Gravel S, Li Y.
europepmc   +1 more source

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

Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes. [PDF]

Am J Hum Genet
Dhindsa RS, Weido BA, Dhindsa JS, Shetty AJ, Sands CF, Petrovski S, Vitsios D, Zoghbi AW.   +7 more
europepmc   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Exploring the mechanism of the Lianshi Jianpi formula in treating impaired glucose tolerance: a network pharmacology, molecular docking, and experimental validation study. [PDF]

J Tradit Chin Med
Mingqian J, Tong W, Bowei H, Chen Q, Yanbin L, Binhua YE.   +5 more
europepmc   +1 more source

Powerful yet challenging: mechanistic niche models for predicting invasive species potential distribution under climate change

Ecography, EarlyView.
Risk assessments of invasive species present one of the most challenging applications of species distribution models (SDMs) due to the fundamental issues of distributional disequilibrium, niche changes, and truncation. Invasive species often occupy only a fraction of their potential environmental and geographic ranges, as their spatiotemporal dynamics ...
Erola Fenollosa, Sean E. H. Pang, Natalie J. Briscoe, Antoine Guisan, Roberto Salguero-Gómez   +4 more
wiley   +1 more source

A practical framework for predicting splicing single nucleotide variants in exome sequencing. [PDF]

NAR Genom Bioinform
Utsuno Y, Hamanaka K, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N.   +9 more
europepmc   +1 more source

Perceived Economic Inequality and Progressive Taxation: The Moderator Role of Upward Mobility Beliefs

European Journal of Social Psychology, EarlyView.
ABSTRACT Attitudes toward redistribution have been widely studied, yet individuals respond differently to specific policies. Progressive taxation is one of the most effective mechanisms for reducing inequality and fostering more egalitarian societies, but little is known about the psychological factors shaping support for it.
Juan Matamoros‐Lima, Miguel Moya, Guillermo B. Willis   +2 more
wiley   +1 more source

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data. [PDF]

Brief Bioinform
Shah A, Monger S, Troup M, Ip EKK, Giannoulatou E.   +4 more
europepmc   +1 more source