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This collection aims to increase the coverage of genetics-related topics in Wikipedia by rewarding                                                                  authors with a citable, PubMed-indexed version of the living document on Wikipedia.

Collection

04/17/2019

Research Article

Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice

In this study, Volpi and colleagues show that endoplasmic reticulum-associated degradation (ERAD) limits myelin defects caused by the accumulation of mutant myelin protein in the ER. The authors describe the importance of Schwann cells ERAD in preserving myelin integrity in adult nerves, showing that genetic ERAD impairment leads to a late onset, motor-predominant, peripheral neuropathy in vivo

Image credit: Vera G. Volpi and colleagues

Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice

Recently Published Articles

Current Issue

Current Issue March 2019

04/16/2019

Research Article

Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep

Variation in oxyhemoglobin saturation is associated with numerous disorders and is a predictor of health outcomes including mortality, incident heart failure, and dementia. In this study, Cade et al perform a large-scale genetic study of oxygen saturation during sleep and identify multiple replicated genome-significant associations based on up to 22,736 individuals.

Image credit: Brian E. Cade and colleagues

Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep

04/10/2019

Research Article

Precise staging of beetle horn formation in Trypoxylus dichotomus reveals the pleiotropic roles of doublesex depending on the spatiotemporal developmental contexts

Here, Morita et al explore the acquisition of evolutionarily novel horns in scarab beetles, and the mechanisms for the diversification of these structures. The authors identify the developmental timepoints during which the morphological sexual dimorphism of horn primordia appears and reveal that doublesex regulates cell activities during horn formation.

Image credit: Shinichi Morita and colleagues

Precise staging of beetle horn formation in Trypoxylus dichotomus reveals the pleiotropic roles of doublesex depending on the spatiotemporal developmental contexts

04/05/2019

Research Article

Reverse GWAS: Using genetics to identify and model phenotypic subtypes

Here, Dahl et al describe reverse GWAS (RGWAS) to split samples into homogeneous subtypes and learn differences in genetic or treatment effects between subtypes. The authors validate RGWAS by recovering known genetic subtypes of major depression and demonstrate that RGWAS can uncover useful novel subtypes in a metabolic dataset.

Reverse GWAS: Using genetics to identify and model phenotypic subtypes

Image credit: Andy Dahl and colleagues

04/11/2019

Research Article

FOXO3 directly regulates an autophagy network to functionally regulate proteostasis in adult neural stem cells

In this study, Audesse and colleagues show that a transcriptional regulator, FOXO3, which is critical for supporting stem cell functionality, regulates a genomic network of autophagy genes in mouse neural stem and progenitor cells. The authors find that FOXO3 functions as a switch to induce autophagy in stem cells.

FOXO3 directly regulates an autophagy network to functionally regulate proteostasis in adult neural stem cells

Image credit: Amanda J. Audesse and colleagues

04/11/2019

Research Article

Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

Zhao et al profile genome-wide human-specific LINE-1 (L1Hs) transposon insertions among 20 postmortem tissues from Rett patients and matched controls. The authors identify somatic L1Hs insertions in cortical neurons and non-brain tissues and find that MeCP2 dysfunction might alter the genomic pattern of somatic L1Hs in Rett patients.

Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

Image credit: Boxun Zhao and colleagues

03/14/2019

Viewpoints

Collateral damage and CRISPR genome editing

Mark Thomas and colleagues discuss recent findings on unwanted collateral damage caused by CRISPR-Cas systems and describe best-practice to reduce the risk of unwanted CRISPR damage when using these systems.

Collateral damage and CRISPR genome editing

Image credit: Duncan Hull, Flickr, CC BY

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