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

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2021

Fager Ferrari Marcus, Zetterberg Eva, Rossing Maria, Manon-Jensen Tina, Pehrsson Martin, Karsdal Morten A, Lykkesfeldt Jens, Leinoe Eva

Abstract excerpt

INTRODUCTION: Variants in collagen-related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VUS) in one of...

Read the complete abstract on PubMed

Topics

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

Share to Ascorbic Acid
Share to Collagen

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type V

Share to Ehlers-Danlos Syndrome

Share to Germ Cells

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33161638
DOI: 10.1111/hae.14195
PMCID: PMC7894344

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.PMID 33161638Read ↗

Vascular aspects of the Ehlers-Danlos Syndromes.Semantic proximity Read ↗

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Semantic proximity Read ↗

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Semantic proximity Read ↗

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.Semantic proximity Read ↗

Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.Semantic proximity Read ↗

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).Semantic proximity Read ↗

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos Syndrome Type IV skin fibroblastsSemantic proximity Read ↗

Collagen XVII.Semantic proximity Read ↗

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.Semantic proximity Read ↗

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.Semantic proximity Read ↗

Critical von Willebrand factor A1 domain residues influence type VI collagen binding.Semantic proximity Read ↗

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