(Q27008370)

main subject

Ehlers-Danlos syndrome

0 references

author name string

Peter H. Byers

series ordinal

1

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Mitzi L. Murray

series ordinal

2

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language of work or name

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15 November 2012

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Journal of Investigative Dermatology

published in

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volume

132

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page(s)

E6-11

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issue

E1

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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s)

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways.

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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).

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Type V collagen controls the initiation of collagen fibril assembly

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSKINBIO.2012.3

7 January 2021

Identifiers

DOI

10.1038/SKINBIO.2012.3

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3728958

Dimensions Publication ID

1026530988

0 references

OpenCitations bibliographic resource ID

3728958

1 reference