TGF-β and BMP signaling pathways in skeletal dysplasia with short and tall stature

A Costantini, A Guasto… - Annual Review of …, 2023 - annualreviews.org
The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling
pathways play a pivotal role in bone development and skeletal health. More than 30 different …

[HTML][HTML] ADAMTS proteins as modulators of microfibril formation and function

D Hubmacher, SS Apte - Matrix Biology, 2015 - Elsevier
The ADAMTS (ad isintegrin-like and metalloproteinase domain with thrombospondin-type 1
motifs) protein superfamily includes 19 secreted metalloproteases and 7 secreted ADAMTS …

[HTML][HTML] Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics

J Dubail, SS Apte - Matrix Biology, 2015 - Elsevier
The mammalian ADAMTS superfamily comprises 19 secreted metalloproteinases and 7
ADAMTS-like proteins, each the product of a distinct gene. Thus far, all appear to be relevant …

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

FPW Radner, S Marrakchi, P Kirchmeier, GJ Kim… - PLoS …, 2013 - journals.plos.org
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin
characterized by abnormal desquamation over the whole body. In this study we report four …

Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs

J Donner, H Anderson, S Davison, AM Hughes… - PLoS …, 2018 - journals.plos.org
Knowledge on the genetic epidemiology of disorders in the dog population has implications
for both veterinary medicine and sustainable breeding. Limited data on frequencies of …

The domestic dog: man's best friend in the genomic era

AR Boyko - Genome biology, 2011 - Springer
The domestic dog genome-shaped by domestication, adaptation to human-dominated
environments and artificial selection-encodes tremendous phenotypic diversity. Recent …

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts

WE Kutz, LW Wang, HL Bader, AK Majors… - Journal of Biological …, 2011 - ASBMB
Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an
inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a …

LGI2 truncation causes a remitting focal epilepsy in dogs

EH Seppälä, TS Jokinen, M Fukata, Y Fukata… - PLoS …, 2011 - journals.plos.org
One quadrillion synapses are laid in the first two years of postnatal construction of the
human brain, which are then pruned until age 10 to 500 trillion synapses composing the …

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

FHG Farias, R Zeng, GS Johnson, FA Wininger… - Neurobiology of …, 2011 - Elsevier
A recessive, adult-onset neuronal ceroid-lipofuscinosis (NCL) occurs in Tibetan terriers. A
genome-wide association study restricted this NCL locus to a 1.3 Mb region of canine …

Genomic analyses of modern dog breeds

HG Parker - Mammalian genome, 2012 - Springer
A rose may be a rose by any other name, but when you call a dog a poodle it becomes a
very different animal than if you call it a bulldog. Both the poodle and the bulldog are …