Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.

American journal of medical genetics. Part A - 1 Dec 2004

Walker L C, Overstreet M A, Willing M C, Marini J C, Cabral W A, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell Heather N

Abstract excerpt

Skin fibroblasts from the majority of patients with the clinical diagnosis of Ehlers-Danlos syndrome type VI (EDS VI; kyphoscoliosis type), have significantly decreased lysyl hydroxylase (LH) activity due to mutations in the LH1 gene (classified as EDS VIA: OMIM no. 225400). A rare condition exis...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line
Share to Collagen
Share to Cross-Linking Reagents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Fibroblasts

Share to Lysine

Share to Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Share to RNA, Messenger

Source

Identifiers

PMID: 15523625
DOI: 10.1002/ajmg.a.30302

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15523625-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.PMID 15523625Read ↗

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.Semantic proximity Read ↗

Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.Semantic proximity Read ↗

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.Semantic proximity Read ↗

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.Semantic proximity Read ↗

The Ehlers-Danlos syndromes.Semantic proximity Read ↗

A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Semantic proximity Read ↗

A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.Semantic proximity Read ↗

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.Semantic proximity Read ↗

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.Semantic proximity Read ↗

An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.