Evidence map›Paper›PMID 35741135›Full record

ReviewDiagnostics (Basel, Switzerland)2022

Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Monica-Cristina Pânzaru, Lavinia Caba, Laura Florea, Elena Emanuela Braha, Eusebiu Vlad Gorduza

Open access · goldAbstract readReview
In one paragraph

Review in Diagnostics (Basel, Switzerland), 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
2.6field-weighted citation impact, top 10% 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
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  4. Review
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  8. Identification of novelExperimental and therapeutic medicine · 2024
    Article
  9. Review
  10. RecessiveJournal of personalized medicine · 2023
    Article
  11. Article
  12. En route towards a personalized medicine approach: Innovative therapeutic modalities for connective tissue disorders.Matrix biology : journal of the International Society for Matrix Biology · 2023
    Review
  13. Review
  14. The Philosophy of Dermatopathology.Diagnostics (Basel, Switzerland) · 2022
    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 2 institutions in 1 country.

Monica-Cristina PânzaruDepartment of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.ORCID 0000-0002-6762-4067
Lavinia CabaDepartment of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.ORCID 0000-0001-6327-4461
Laura FloreaDepartment of Nephrology-Internal Medicine, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.
Elena Emanuela Braha"C. I. Parhon" National Institute of Endocrinology, 410087 Bucharest, Romania.
Eusebiu Vlad GorduzaDepartment of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.
Grigore T. Popa University of Medicine and Pharmacy · ROInstitutul Național de Endocrinologie C.I. Parhon · RO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype-phenotype.

Indexed as

epidermolysis bullosaheterogeneitymutation

Identifiers

PMID35741135
PMCPMC9222206
OpenAlexW4281682595

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.