scholarly journals What Can hiPSC-Cardiomyocytes Teach Us about Modeling Complex Human Disease Phenotypes?

2016 ◽  
Vol 19 (3) ◽  
pp. 282-284 ◽  
Author(s):  
Ulrich Broeckel
Keyword(s):  
Human Disease ◽  
Complex Human Disease ◽  
Disease Phenotypes

scholarly journals Erratum: CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Hua Zhong ◽  
Yiyun Chen ◽  
Yumei Li ◽  
Rui Chen ◽  
Graeme Mardon
Keyword(s):  
Human Disease ◽  
Disease Phenotypes

Chromosomal mapping of quantitative trait loci contributing to stroke in a rat model of complex human disease

1996 ◽  
Vol 13 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Speranza Rubattu ◽  
Massimo Volpe ◽  
Reinhold Kreutz ◽  
Ursula Ganten ◽  
Detlev Ganten ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Rat Model ◽  
Quantitative Trait ◽  
Human Disease ◽  
Chromosomal Mapping ◽  
Complex Human Disease ◽  
Trait Loci

scholarly journals Understanding the genetics behind complex human disease with large-scale iPSC collections

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Amanda E. Yamasaki ◽  
Athanasia D. Panopoulos ◽  
Juan Carlos Izpisua Belmonte
Keyword(s):  
Human Disease ◽  
Large Scale ◽  
Complex Human Disease

scholarly journals The signaling lipid PI(3,5)P2 stabilizes V1–Vo sector interactions and activates the V-ATPase

2014 ◽  
Vol 25 (8) ◽  
pp. 1251-1262 ◽  
Author(s):  
Sheena Claire Li ◽  
Theodore T. Diakov ◽  
Tao Xu ◽  
Maureen Tarsio ◽  
Wandi Zhu ◽  
...  
Keyword(s):  
Salt Stress ◽  
Atpase Activity ◽  
Human Disease ◽  
Proton Pumps ◽  
Disease Phenotypes ◽  
Reversible Dissociation ◽  
Signaling Mechanisms ◽  
Vacuolar Acidification ◽  
Direct Binding

Vacuolar proton-translocating ATPases (V-ATPases) are highly conserved, ATP-driven proton pumps regulated by reversible dissociation of its cytosolic, peripheral V1 domain from the integral membrane Vo domain. Multiple stresses induce changes in V1-Vo assembly, but the signaling mechanisms behind these changes are not understood. Here we show that certain stress-responsive changes in V-ATPase activity and assembly require the signaling lipid phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). V-ATPase activation through V1-Vo assembly in response to salt stress is strongly dependent on PI(3,5)P2 synthesis. Purified Vo complexes preferentially bind to PI(3,5)P2 on lipid arrays, suggesting direct binding between the lipid and the membrane sector of the V-ATPase. Increasing PI(3,5)P2 levels in vivo recruits the N-terminal domain of Vo-sector subunit Vph1p from cytosol to membranes, independent of other subunits. This Vph1p domain is critical for V1-Vo interaction, suggesting that interaction of Vph1p with PI(3,5)P2-containing membranes stabilizes V1-Vo assembly and thus increases V-ATPase activity. These results help explain the previously described vacuolar acidification defect in yeast fab1∆ and vac14∆ mutants and suggest that human disease phenotypes associated with PI(3,5)P2 loss may arise from compromised V-ATPase stability and regulation.

The potential role of epigenomic dysregulation in complex human disease

2007 ◽  
Vol 23 (11) ◽  
pp. 588-595 ◽  
Author(s):  
Eli Hatchwell ◽  
John M. Greally
Keyword(s):  
Human Disease ◽  
Potential Role ◽  
Complex Human Disease

scholarly journals The population-specific impact of Neandertal introgression on human disease

2020 ◽  
Author(s):  
Michael Dannemann
Keyword(s):  
Prostate Cancer ◽  
Human Disease ◽  
European Ancestry ◽  
Summary Statistics ◽  
Behavioral Traits ◽  
Disease Phenotypes ◽  
Disease Associations ◽  
Specific Impact ◽  
People Today

Abstract Since the discovery of admixture between modern humans and Neandertals, multiple studies investigated the effect of Neandertal-derived DNA on human disease and non-disease phenotypes. These studies have linked Neandertal ancestry to skin and hair related phenotypes, immunity, neurological and behavioral traits. However, these inferences have so far been limited to cohorts with participants of European ancestry. Here, I analyze summary statistics from 40 disease GWAS cohorts of ∼212,000 individuals provided by the Biobank Japan Project for phenotypic effects of Neandertal DNA. I show that Neandertal DNA is associated with autoimmune diseases, prostate cancer and type 2 diabetes. Many of these disease associations are linked to population-specific Neandertal DNA, highlighting the importance of studying a wider range of ancestries to characterize the phenotypic legacy of Neandertals in people today.

Human Disease Phenotypes Associated With Mutations in TREX1

2015 ◽  
Vol 35 (3) ◽  
pp. 235-243 ◽  
Author(s):  
Gillian I. Rice ◽  
Mathieu P. Rodero ◽  
Yanick J. Crow
Keyword(s):  
Human Disease ◽  
Disease Phenotypes
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