Regulation of the bioavailability of TGF-β and TGF-β-related proteins

IB Robertson, DB Rifkin - Cold Spring Harbor …, 2016 - cshperspectives.cshlp.org
The bioavailability of members of the transforming growth factor β (TGF-β) family is
controlled by a number of mechanisms. Bona fide TGF-β is sequestered into the matrix in a …

ADAMTS proteins in human disorders

TJ Mead, SS Apte - Matrix Biology, 2018 - Elsevier
ADAMTS proteins are a superfamily of 26 secreted molecules comprising two related, but
distinct families. ADAMTS proteases are zinc metalloendopeptidases, most of whose …

[HTML][HTML] Elastic fibers during aging and disease

A Heinz - Ageing research reviews, 2021 - Elsevier
Elastic fibers are essential constituents of the extracellular matrix of higher vertebrates and
endow several tissues and organs including lungs, skin and blood vessels with elasticity …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

Human genome sequencing in health and disease

C Gonzaga-Jauregui, JR Lupski… - Annual review of …, 2012 - annualreviews.org
Following the “finished,” euchromatic, haploid human reference genome sequence, the
rapid development of novel, faster, and cheaper sequencing technologies is making …

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders

LY Sakai, DR Keene, M Renard, J De Backer - Gene, 2016 - Elsevier
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into
microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all …

[HTML][HTML] Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors

J Thomson, M Singh, A Eckersley, SA Cain… - Seminars in cell & …, 2019 - Elsevier
Fibrillin microfibrils are extensible polymers that endow connective tissues with long-range
elasticity and have widespread distributions in both elastic and non-elastic tissues. They act …

Mechanisms in endocrinology: novel genetic causes of short stature

JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

[HTML][HTML] 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 …

Elastic fibres in health and disease

AK Baldwin, A Simpson, R Steer, SA Cain… - Expert reviews in …, 2013 - cambridge.org
Elastic fibres are insoluble components of the extracellular matrix of dynamic connective
tissues such as skin, arteries, lungs and ligaments. They are laid down during development …