Evidence map›Paper›PMID 28649518›Full record

ArticleMolecular genetics and metabolism reports2015

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel

Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni, Stefano Quinzani, Michele Traversa, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
1.6field-weighted citation impact, top 15% 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

19 citing papers in PubMed, 35 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. MutantFrontiers in genetics · 2022
    Article
  5. Review
  6. Article
  7. Review
  8. Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021
    Review
  9. Review
  10. Review
  11. The Ehlers-Danlos syndromes.Nature reviews. Disease primers · 2020
    Review
  12. Frontiers in cell and developmental biology · 2020
    Article
  13. Article
  14. Review
  15. Review
  16. Article
  17. Review
  18. Article
  19. 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

9 authors at 2 institutions in 1 country.

Marco RitelliDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Nicola ChiarelliDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Nicoletta ZoppiDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Chiara DordoniDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Stefano QuinzaniDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Michele TraversaDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Marina VenturiniDivision of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
Piergiacomo Calzavara-PintonDivision of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
Marina ColombiDivision of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
University of Brescia · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in

Indexed as

Abs, antibodiesATCS, adducted-thumb club foot syndromeB3GALT6BMP, bone morphogenetic proteinsC4ST, chondroitin 4-sulfotransferaseC6ST, chondroitin 6-sulfotransferaseCartilage oligomeric matrix proteinChPF, chondroitin polymerizing factorChSy, chondroitin synthaseCOLLIII, type III collagenCOLLI, type I collagenCOLLs, collagensCOLLV, type V collagenCOMP, cartilage oligomeric matrix proteinCS, chondroitin sulfateCSGALNACT1, chondroitin sulfate N-acetylgalactosaminyltransferase 1CTDs, connective tissue disordersD4ST, dermatan 4 sulfotransferase 1DCN, decorinDEGs, differentially expressed genesDS, dermatan sulfateECM, extracellular matrixEDS, Ehlers–Danlos syndromeEhlers–Danlos syndromeFN, fibronectinGAGs, glycosaminoglycansGal, galactoseGalNAc4S-6ST, GalNAc 4-sulfate 6-O-sulfotransferaseGalNAc, N-acetylgalactosamineGalNAcT-16, N-acetylgalactosaminyltransferase 16GalNAcT, β1,4-N-acetylgalactosaminyltransferaseGalT-II deficiencyGalT-I/II, galactosyltransferase I and IIGlcA, glucuronic acidGlcAT, glucuronosyltransferaseGlcNAc, N-acetylglucosamineGlcNAcT, α1,4-N-acetylglucosaminyltransferaseGO, gene ontologyHA, hyaluronic acidHAS2, hyaluronan synthase 2Hep, heparinHOX, homeobox gene familyHPO, human phenotype ontologyHS, heparan sulfateIdoA, iduronic acidIF, immunofluorescence microscopy studiesOPN, osteopontinOsteopontinPGs, proteoglycansPTC, premature termination codon of translationqPCR, quantitative polymerase chain reactionSEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity type 1Spondyloepimetaphyseal dysplasia with joint laxity type 1TNs, tenascinsXylT, xylosyltransferaseXyl, xylose

Identifiers

PMID28649518
PMCPMC5471164
OpenAlexW2085055633

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.