The Ehlers-Danlos syndrome, a disorder with many faces (Q37986887)

26 August 2017

The Ehlers-Danlos syndrome, a disorder with many faces (English)

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26 August 2017

Ehlers-Danlos syndrome

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author name string

A De Paepe

series ordinal

1

1 reference

PubMed ID

22353005

26 August 2017

F Malfait

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2

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26 August 2017

15 March 2012

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26 August 2017

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26 August 2017

82

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26 August 2017

1

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26 August 2017

1-11

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Collagens, modifying enzymes and their mutations in humans, flies and worms

26 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Modulation of collagen fibrillogenesis by tenascin-X and type VI collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

The collagen VI-related myopathies: muscle meets its matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Articular mobility in an African population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

The Human Collagen Mutation Database 1998.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

A Heritable Disorder of Connective Tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01858.X

10.1111/J.1399-0004.2012.01858.X

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22353005