Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities

N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

Genetic compensation: A phenomenon in search of mechanisms

MA El-Brolosy, DYR Stainier - PLoS genetics, 2017 - journals.plos.org
Several recent studies in a number of model systems including zebrafish, Arabidopsis, and
mouse have revealed phenotypic differences between knockouts (ie, mutants) and …

Mass spectrometry‐based protein–protein interaction networks for the study of human diseases

AL Richards, M Eckhardt, NJ Krogan - Molecular systems biology, 2021 - embopress.org
A better understanding of the molecular mechanisms underlying disease is key for
expediting the development of novel therapeutic interventions. Disease mechanisms are …

Evolution of plasticity: mechanistic link between development and reversible acclimation

JE Beaman, CR White, F Seebacher - Trends in Ecology & Evolution, 2016 - cell.com
Phenotypic characteristics of animals can change independently from changes in the
genetic code. These plastic phenotypic responses are important for population persistence …

[图书][B] Principles and Practice of Sleep Medicine-E-Book: Expert Consult-Online and Print

MH Kryger, T Roth, WC Dement - 2010 - books.google.com
Principles and Practice of Sleep Medicine, 5th Edition, by Meir H. Kryger, MD, FRCPC,
Thomas Roth, PhD, and William C. Dement, MD, PhD, delivers the comprehensive …

Epistasis—the essential role of gene interactions in the structure and evolution of genetic systems

PC Phillips - Nature Reviews Genetics, 2008 - nature.com
Epistasis, or interactions between genes, has long been recognized as fundamentally
important to understanding the structure and function of genetic pathways and the …

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

M Pipis, AM Rossor, M Laura, MM Reilly - Nature Reviews Neurology, 2019 - nature.com
Abstract Charcot–Marie–Tooth disease and the related disorders hereditary motor
neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the …

[HTML][HTML] Genetic background limits generalizability of genotype-phenotype relationships

LJ Sittig, P Carbonetto, KA Engel, KS Krauss… - Neuron, 2016 - cell.com
Genome-wide association studies (GWASs) have identified numerous loci that influence risk
for psychiatric diseases. Genetically engineered mice are often used to characterize genes …

Global mapping of the yeast genetic interaction network

AHY Tong, G Lesage, GD Bader, H Ding, H Xu, X Xin… - science, 2004 - science.org
A genetic interaction network containing∼ 1000 genes and∼ 4000 interactions was
mapped by crossing mutations in 132 different query genes into a set of∼ 4700 viable gene …

The genetic architecture of quantitative traits

TFC Mackay - Annual review of genetics, 2001 - annualreviews.org
▪ Abstract Phenotypic variation for quantitative traits results from the segregation of alleles at
multiple quantitative trait loci (QTL) with effects that are sensitive to the genetic, sexual, and …