Evidence map›Paper›PMID 40225172›Full record

ArticleHuman mutation2023

The UCMD-Causing

Carolin D Freiburg, Herimela Solomon-Degefa, Patrick Freiburg, Matthias Mörgelin, Véronique Bolduc, Sebastian Schmitz, Pierpaolo Ala, Francesco Muntoni, Elmar Behrmann, Carsten G Bönnemann and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. The recurrent deep intronic pseudoexon-inducing variantmedRxiv : the preprint server for health sciences · 2024
    Article
  6. A humanized knock-inbioRxiv : the preprint server for biology · 2024
    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

13 authors.

Carolin D FreiburgCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
Herimela Solomon-DegefaCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.ORCID 0000-0003-1094-9802
Patrick FreiburgInstitute of Biochemistry, Faculty of Mathematics and Natural Sciences, University of Cologne, Cologne, Germany.ORCID 0000-0001-7451-9698
Matthias MörgelinColzyx AB, Medicon Village, SE-223 81 Lund, Sweden.ORCID 0000-0001-7018-515X
Véronique BolducNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
Sebastian SchmitzCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
Pierpaolo AlaDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital NIHR Biomedical Research Centre, London, UK.ORCID 0000-0001-9410-0085
Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital NIHR Biomedical Research Centre, London, UK.ORCID 0000-0002-9102-5232
Elmar BehrmannInstitute of Biochemistry, Faculty of Mathematics and Natural Sciences, University of Cologne, Cologne, Germany.ORCID 0000-0001-6794-3669
Carsten G BönnemannNeuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.ORCID 0000-0002-5930-2324
Alvise SchiavinatoCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.ORCID 0000-0002-8969-4074
Mats PaulssonCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.ORCID 0000-0002-6846-857X
Raimund WagenerCenter for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.ORCID 0000-0003-3186-017X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Collagen VI is a unique member of the collagen family. Its assembly is a complex multistep process and the vulnerability of the process is manifested in muscular diseases. Mutations in

Indexed as

Collagen Type VIIntronsMuscular DystrophiesMutationFibroblastsHumansCol6a1 protein, humanCollagen Type VI

Identifiers

PMID40225172
PMCPMC11919215

What OpenQuestion holds

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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.