C-terminal proteolysis of the collagen VI α3 chain by BMP-1 and proprotein convertase (s) releases endotrophin in fragments of different sizes

SE Heumüller, M Talantikite, M Napoli… - Journal of Biological …, 2019 - ASBMB
The assembly of collagen VI microfibrils is a multistep process in which proteolytic
processing within the C-terminal globular region of the collagen VI α3 chain plays a major …

Overexpression of miR-29 leads to myopathy that resemble pathology of ullrich congenital muscular dystrophy

C Liu, L Li, M Ge, L Gu, M Wang, K Zhang, Y Su… - Cells, 2019 - mdpi.com
Ullrich congenital muscular dystrophy (UCMD) bring heavy burden to patients' families and
society. Because the incidence of this disease is very low, studies in patients are extremely …

DNA methylation and mRNA expression of COL6A3 in antler mesenchyme of female and male reindeer

JC Zhai, RB Han, SN Wang, QH Wang, YL Xia… - Genes & genomics, 2019 - Springer
Backgroud Reindeer is the only deer species that both male and female produce antlers,
which provides a particularly interesting case in studying the differences between antlers of …

Tyrosine Hydroxylase Deficiency: Studies in patient samples and in a cellular model

A Tristán Noguero - 2019 - diposit.ub.edu
[eng] Monoamine Neurotransmitter diseases are a rare group of inherited disorders of
metabolism that encompass 12 different genetic defects leading to abnormal dopamine …

Genomic inbreeding trends in the global Thoroughbred horse population driven by influential sire lines and selection for exercise trait-related genes

BA McGivney, H Han, LR Corduff, LM Katz, T Tozaki… - bioRxiv, 2019 - biorxiv.org
The Thoroughbred horse is a highly valued domestic animal population under strong
selection for athletic phenotypes. Here we present a high resolution genomics-based …