Evidence map›Paper›PMID 35537467›Full record

ReviewAnnual review of genomics and human genetics2022

Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine.

Shukti Chakravarti, Elena Enzo, Maithê Rocha Monteiro de Barros, Maria Benedetta Rizzarda Maffezzoni, Graziella Pellegrini

Open access · hybridAbstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
3.2field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024
    Article
  7. Review
  8. Article
  9. Review
  10. Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells.Molecular therapy : the journal of the American Society of Gene Therapy · 2024
    Article
  11. Article
  12. Review
  13. The SVZ stem cell niche-components, functions, andFrontiers in cell and developmental biology · 2023
    Review
  14. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 3 institutions in 2 countries.

Shukti ChakravartiDepartment of Ophthalmology and Department of Pathology, Grossman School of Medicine, New York University, New York, NY, USA; email: shukti.chakravarti@nyulangone.org, maithe.rochamonteirodebarros@nyulangone.org.
Elena EnzoCenter for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.
Maithê Rocha Monteiro de BarrosDepartment of Ophthalmology and Department of Pathology, Grossman School of Medicine, New York University, New York, NY, USA; email: shukti.chakravarti@nyulangone.org, maithe.rochamonteirodebarros@nyulangone.org.
Maria Benedetta Rizzarda MaffezzoniCenter for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.
Graziella PellegriniCenter for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.
New York University · USUniversity of Modena and Reggio Emilia · ITFerrari (Italy) · IT

Funding

TGF beta and AKT signal-driven pathogenesis in keratoconusR01EY026104 · NEI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Shukti Chakravarti · 2016 to 2026
$4.2M
Extracellular matrix proteoglycans regulate toll-like receptors 4 and 9 - Equipment SupplementR01EY030917 · NEI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI CHAKRAVARTI, SHUKTI · 2020 to 2023
$1.8M
The role of NBEAL2 in the corneaR21EY032109 · NEI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI CHAKRAVARTI, SHUKTI · 2021 to 2022
$458k
NEI NIH HHS R01 EY026104NEI NIH HHS R01 EY030917NEI NIH HHS R21 EY032109
6 · The paper itself

Abstract

Metazoans have evolved to produce various types of extracellular matrix (ECM) that provide structural support, cell adhesion, cell-cell communication, and regulated exposure to external cues. Epithelial cells produce and adhere to a specialized sheet-like ECM, the basement membrane, that is critical for cellular homeostasis and tissue integrity. Mesenchymal cells, such as chondrocytes in cartilaginous tissues and keratocytes in the corneal stroma, produce a pericellular matrix that presents optimal levels of growth factors, cytokines, chemokines, and nutrients to the cell and regulates mechanosensory signals through specific cytoskeletal and cell surface receptor interactions. Here, we discuss laminins, collagen types IV and VII, and perlecan, which are major components of these two types of ECM. We examinegenetic defects in these components that cause basement membrane pathologies such as epidermolysis bullosa, Alport syndrome, rare pericellular matrix-related chondrodysplasias, and corneal keratoconus and discuss recent advances in cell and gene therapies being developed for some of these disorders.

Indexed as

Extracellular MatrixRegenerative MedicineCorneaExtracellular Matrix ProteinsGenetic TherapyHumansExtracellular Matrix ProteinsAlport syndromechondrodysplasiacollagensepidermolysis bullosalamininsperlecan

Identifiers

PMID35537467
PMCPMC12090096
OpenAlexW4280505269

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.