The pathogenesis of keratoconus

AE Davidson, S Hayes, AJ Hardcastle, SJ Tuft - Eye, 2014 - nature.com
Keratoconus (KC) is a common degenerative condition that frequently results in visual loss
with an onset typically in early adulthood. It is the single most common reason for …

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

C Gensemer, R Burks, S Kautz, DP Judge… - Developmental …, 2021 - Wiley Online Library
Abstract The Ehlers‐Danlos syndromes (EDS) are a group of heritable, connective tissue
disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility …

Multicellular transcriptional analysis of mammalian heart regeneration

GA Quaife-Ryan, CB Sim, M Ziemann, A Kaspi… - Circulation, 2017 - Am Heart Assoc
Background: The inability of the adult mammalian heart to regenerate following injury
represents a major barrier in cardiovascular medicine. In contrast, the neonatal mammalian …

The Ehlers–Danlos syndromes, rare types

AF Brady, S Demirdas… - American Journal of …, 2017 - Wiley Online Library
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group
of heritable connective tissue disorders, which are characterized by joint hypermobility, skin …

The Ehlers–Danlos syndrome, a disorder with many faces

A De Paepe, F Malfait - Clinical genetics, 2012 - Wiley Online Library
The Ehlers–Danlos syndromes (EDSs) comprise a heterogeneous group of diseases,
characterized by fragility of the soft connective tissues and widespread manifestations in …

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya… - Nature …, 2013 - nature.com
Central corneal thickness (CCT) is associated with eye conditions including keratoconus
and glaucoma. We performed a meta-analysis on> 20,000 individuals in European and …

The Prdm family: expanding roles in stem cells and development

T Hohenauer, AW Moore - Development, 2012 - journals.biologists.com
Members of the Prdm family are characterized by an N-terminal PR domain that is related to
the SET methyltransferase domain, and multiple zinc fingers that mediate sequence-specific …

On the mechanochemical activation by ultrasound

G Cravotto, EC Gaudino, P Cintas - Chemical Society Reviews, 2013 - pubs.rsc.org
Chemists have discovered, and recently actively exploited, the fact that subjecting certain
molecules to ultrasound waves can bring about transformations that give insight into the …

PRDM proteins: important players in differentiation and disease

CK Fog, GG Galli, AH Lund - Bioessays, 2012 - Wiley Online Library
The PRDM family has recently spawned considerable interest as it has been implicated in
fundamental aspects of cellular differentiation and exhibits expanding ties to human …

The ehlers–danlos syndromes

F Malfait, M Castori, CA Francomano… - Nature Reviews …, 2020 - nature.com
Abstract The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary
disorders of connective tissue, with common features including joint hypermobility, soft and …