ArticleHuman mutation2009
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 43 citations in OpenAlex.
- Article
- Ready or not, genomic screening of fetuses is already here.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Presentation and Management of a Novel Ehlers-Danlos COL5A1 Variant With Birt-Hogg-Dube Syndrome: A Case Study.Cureus · 2023Article
- Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.Genes · 2022Review
- Review
- Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.Current issues in molecular biology · 2022Article
- Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?International journal of molecular sciences · 2021Review
- A Heterozygous Missense Variant in theAnimals : an open access journal from MDPI · 2020Article
- Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.BMC pediatrics · 2020Article
- Genetic Aspects in Shoulder Disorders.Revista brasileira de ortopedia · 2020Article
- Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations inBioscience reports · 2019Article
- New variants inPostepy dermatologii i alergologii · 2019Article
- Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.Orphanet journal of rare diseases · 2013Article
- Characterization of tissue-specific and developmentally regulated alternative splicing of exon 64 in the COL5A1 gene.Connective tissue research · 2012Article
- A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.PloS one · 2011Article
- Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.European journal of human genetics : EJHG · 2010Article
- Heart valve development: regulatory networks in development and disease.Circulation research · 2009Review
- Profile of collagen gene expression in the glenohumeral capsule of patients with traumatic anterior instability of the shoulder.Revista brasileira de ortopediaArticle
- Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.Journal of veterinary internal medicineArticle
- Biomarkers of Injury Severity in Shoulder Instability and Posttraumatic Osteoarthritis.JB & JS open accessReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hyperextensibility, and abnormal wound healing. The majority of affected individuals have alterations in 1 of the 2 type V collagen genes, COL5A1 and COL5A2. The most common mechanism is COL5A1 haploinsufficiency due to instability of the transcript of one allele. In dermal fibroblasts from our population of 76 individuals with clinical features of classical EDS, there were 21 (29.5%) with decreased expression of one COL5A1 allele, consistent with published estimates of the frequency of null alleles. We identified the causative mutation in nine of these cell strains (mutations for seven others had been previously described), and found two nonsense mutations, five splice mutations, and two insertion/deletions. The same type of genomic change at splice sites can have different effects at the RNA level and the outcome could not be predicted from the primary genomic DNA alteration.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.