Modelling amyotrophic lateral sclerosis in rodents

TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …

Chromosome territories and the global regulation of the genome

AJ Fritz, N Sehgal, A Pliss, J Xu… - Genes, Chromosomes …, 2019 - Wiley Online Library
Spatial positioning is a fundamental principle governing nuclear processes. Chromatin is
organized as a hierarchy from nucleosomes to Mbp chromatin domains (CD) or topologically …

Matrin3 mediates differentiation through stabilizing chromatin loop-domain interactions and YY1 mediated enhancer-promoter interactions

T Liu, Q Zhu, Y Kai, T Bingham, S Wang… - Nature …, 2024 - nature.com
Although emerging evidence indicates that alterations in proteins within nuclear
compartments elicit changes in chromosomal architecture and differentiation, the underlying …

PAX7 expression defines germline stem cells in the adult testis

GM Aloisio, Y Nakada, HD Saatcioglu… - The Journal of …, 2014 - Am Soc Clin Investig
Spermatogenesis is a complex, multistep process that maintains male fertility and is
sustained by rare germline stem cells. Spermatogenic progression begins with …

Morphogenesis of the mammalian aortic arch arteries

RH Anderson, SD Bamforth - Frontiers in Cell and Developmental …, 2022 - frontiersin.org
The major vessels in mammals that take blood away from the heart and deliver it to the arms
and the head take their origin from the aortic arch and are derived from the arteries formed …

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

E Gillis, AA Kumar, I Luyckx, C Preuss… - Frontiers in …, 2017 - frontiersin.org
Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV
patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA) …

Matrin 3-dependent neurotoxicity is modified by nucleic acid binding and nucleocytoplasmic localization

AM Malik, RA Miguez, X Li, YS Ho, EL Feldman… - elife, 2018 - elifesciences.org
Abnormalities in nucleic acid processing are associated with the development of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in Matrin …

Historical and clinical perspectives on chromosomal translocations

ES Wilch, CC Morton - Chromosome translocation, 2018 - Springer
Chromosomal translocations, rearrangements involving the exchange of segments between
chromosomes, were documented in humans in 1959. The first accurately reported clinical …

In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms

M D'Antonio, JP Nguyen, TD Arthur… - PLoS computational …, 2022 - journals.plos.org
Reactivation of fetal-specific genes and isoforms occurs during heart failure. However, the
underlying molecular mechanisms and the extent to which the fetal program switch occurs …

GATA6 regulates aortic valve remodeling, and its haploinsufficiency leads to right-left type bicuspid aortic valve

L Gharibeh, H Komati, Y Bossé, M Boodhwani… - Circulation, 2018 - Am Heart Assoc
Background: Bicuspid aortic valve (BAV), the most common congenital heart defect affecting
1% to 2% of the population, is a major risk factor for premature aortic valve disease and …