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Ehlers-Danlos syndrome 6B

Known as: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE, BRITTLE CORNEA SYNDROME 1, CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY 
 
National Institutes of Health

Related topics

Related topics

18 relations
Autosomal recessive inheritanceCicatrixDentinogenesis ImperfectaEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
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Broader (2)

Eye AbnormalitiesSkin Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Collagen-related genes influence the glaucoma risk factor, central corneal thickness.
Central corneal thickness (CCT) is a risk factor of glaucoma, the most common cause of irreversible blindness worldwide. The… Expand
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Highly Cited
2011
Highly Cited
2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of… Expand
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Highly Cited
2011
Highly Cited
2011
A pathway of protein translocation in mitochondria mediated by the AAA-ATPase Bcs1.
The AAA+ family in eukaryotes has many members in various cellular compartments with a role in protein unfolding and degradation… Expand
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Highly Cited
2010
Highly Cited
2010
Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness
Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the… Expand
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2010
2010
Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.
PURPOSE To investigate the diverse clinical manifestations, identify the causative mutation and explain the association with red… Expand
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Highly Cited
2008
Highly Cited
2008
Identification of regulatory pathways controlling gene expression of stress-responsive mitochondrial proteins in Arabidopsis.
In this study we analyzed transcript abundance and promoters of genes encoding mitochondrial proteins to identify signaling… Expand
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Highly Cited
2008
Highly Cited
2008
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.
Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing… Expand
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Review
2005
Review
2005
Microsporidiosis: an emerging and opportunistic infection in humans and animals.
Microsporidia have emerged as causes of infectious diseases in AIDS patients, organ transplant recipients, children, travelers… Expand
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Highly Cited
1998
Highly Cited
1998
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
We have successfully applied a strategy based on the "cyberscreening" of the expressed sequence tags database using yeast protein… Expand
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Highly Cited
1992
Highly Cited
1992
BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae.
Respiratory deficient pet mutants of Saccharomyces cerevisiae assigned to complementation group G2 define a new gene, named BCS1… Expand
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