Cited by 186Connective tissue disorders researchCollagen: Extraction and CharacterizationCellular Mechanics and Interactions

The DOI matches its Crossref record; 159 of the 172 references it cites were found in a registry or an index.

From Structure to Phenotype: Impact of Collagen Alterations on Human Health

Open access
Arseni, Lavinia, Lombardi, Anita, Orioli, Donata·2018·International Journal of Molecular Sciences

Abstract

The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue development and organ physiology. Loss or alteration of ECM components turns towards a disease outcome. In this review, we provide a general overview of ECM components with a special focus on collagens, the most abundant and diverse ECM molecules. We discuss the different functions of the ECM including its impact on cell proliferation, migration and differentiation by highlighting the relevance of the bidirectional cross-talk between the matrix and surrounding cells. By systematically reviewing all the hereditary disorders associated to altered collagen structure or resulting in excessive collagen degradation, we point to the functional relevance of the collagen and therefore of the ECM elements for human health. Moreover, the large overlapping spectrum of clinical features of the collagen-related disorders makes in some cases the patient clinical diagnosis very difficult. A better understanding of ECM complexity and molecular mechanisms regulating the expression and functions of the various ECM elements will be fundamental to fully recognize the different clinical entities.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.3390/ijms19051407

Cites

159 of 159 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Flagged first, then by citations

Show all 172 references

13 of the 172 references couldn’t be matched to a known paper.

Research works printed but not linked: 13

  1. Davies, J.A. (2001). Extracellular Matrix, John Wiley & Sons Ltd.
  2. Mithieux, 2005, Elastin, Adv. Protein Chem., 70, 437, 10.1016/S0065-3233(05)70013-9 · DOI
  3. Uchimura, K., Morimoto-Tomita, M., Bistrup, A., Li, J., Lyon, M., Gallagher, J., Werb, Z., and Rosen, S.D. (2006). HSulf-2, an extracellular endoglucosamine-6-sulfatase, selectively mobilizes heparin-bound growth factors and chemokines: Effects on VEGF, FGF-1, and SDF-1. BMC Biochem., 7. · DOI
  4. Karsdal, M.A. (2016). Biochemistry of Collagens, Laminins and Elastin: Structure, Function and Biomarkers, Elsevier.
  5. Marini, 2017, Osteogenesis imperfecta, Nat. Rev. Dis. Primers, 3, 17052, 10.1038/nrdp.2017.52 · DOI · Paper page
  6. Anderson, 1990, Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2AI), Am. J. Hum. Genet., 46, 896
  7. Faber, 2000, Clinical variability of stickler syndrome with a COL2A1 haploinsufficiency mutation: Implications for genetic counselling, J. Med. Genet., 37, 318, 10.1136/jmg.37.4.318 · DOI
  8. Granata, 2005, Schizencephaly: Clinical spectrum, epilepsy, and pathogenesis, J. Child Neurol., 20, 313, 10.1177/08830738050200040801 · DOI
  9. Badenas, 2002, Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria, J. Am. Soc. Nephrol., 13, 1248, 10.1681/ASN.V1351248 · DOI
  10. Zech, 2015, Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia, Am. J. Hum. Genet., 96, 883, 10.1016/j.ajhg.2015.04.010 · DOI
  11. Yasukawa, 2002, Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa, Arch. Dermatol., 138, 269, 10.1001/archderm.138.2.269 · DOI
  12. Baratz, 2010, E2-2 protein and Fuchs’s corneal dystrophy, N. Engl. J. Med., 363, 1016, 10.1056/NEJMoa1007064 · DOI
  13. Shetty, 2015, Attenuation of lysyl oxidase and collagen gene expression in keratoconus patient corneal epithelium corresponds to disease severity, Mol. Vis., 21, 12

Cited by

Sorted by citations

Items 101–166 of 166

Metadata

Authors
Arseni, L., Lombardi, A., & Orioli, D.
Affiliations
  • German Cancer Research Center (DE)
  • Istituto di Genetica Molecolare (IT)
Corresponding author
Orioli, Donata
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2018-05-08
Volume
19
Issue
5
Pages
1407
ISSN
1422-0067 (ISSN-L)
OpenAlex
W2800155899
Cited by
186
References
172
Citations by year
2026: 15 · 2025: 31 · 2024: 33 · 2023: 21 · 2022: 23 · 2021: 31 · 2020: 14 · 2019: 12 · 2018: 4
FWCI
2.13
Type
journal article
Language
en
Open access
Locations
  • International Journal of Molecular Sciences (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • Deutsches Krebsforschungszentrum
  • Fondazione Umberto Veronesi
  • Associazione Italiana per la Ricerca sul Cancro (IG 17710, 17710)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Physical Sciences › Materials Science › Biomaterials › Collagen: Extraction and Characterization
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular Mechanics and Interactions
Keywords
collagen, extracellular matrix, collagen degradation, cell proliferation, cell migration, cell differentiation, diagnosis
MeSH terms
Cell Movement, Collagen, Extracellular Matrix, Humans, Phenotype, Structure-Activity Relationship, Extracellular Matrix Proteins, Genetic Diseases, Inborn, Cell Proliferation

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review