Evidence map›Paper›PMID 28241484›Full record

ArticleInternational journal of molecular sciences2017

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

Beatriz Puisac, María-Esperanza Teresa-Rodrigo, María Hernández-Marcos, Carolina Baquero-Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez-Puertas, Frank J Kaiser, Feliciano J Ramos and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

12 authors at 5 institutions in 4 countries.

Beatriz PuisacUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. puisac@unizar.es.
María-Esperanza Teresa-RodrigoUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. eteresa@unizar.es.
María Hernández-MarcosUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. mhmarcos@unizar.es.
Carolina Baquero-MontoyaDepartment of Pediatrics, Hospital Pablo Tobón Uribe, 05001000 Medellín, Colombia. carobaque@gmail.com.
María-Concepción Gil-RodríguezUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. mcgil@unizar.es.
Torkild VisnesDepartment of Cell and Molecular Biology, Karolinska Institute, SE-17177 Stockholm, Sweden. Torkild.Visnes@ki.se.
Christopher BotDepartment of Cell and Molecular Biology, Karolinska Institute, SE-17177 Stockholm, Sweden. Christopher.Bot@ki.se.
Paulino Gómez-PuertasMolecular Modelling Group, Center of Molecular Biology "Severo Ochoa" (CSIC-UAM), Cantoblanco, E-28049 Madrid, Spain. pagomez@cbm.csic.es.
Frank J KaiserSection for Functional Genetics at the Institute of Human Genetics, University of Lübeck, D-23538 Lübeck, Germany. frank.kaiser@uk-sh.de.
Feliciano J RamosUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. framos@unizar.es.
Lena StrömDepartment of Cell and Molecular Biology, Karolinska Institute, SE-17177 Stockholm, Sweden. Lena.Strom@ki.se.
Juan PiéUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain. juanpie@unizar.es.
Universidad de Zaragoza · ESKarolinska Institutet · SECentro de Biología Molecular Severo Ochoa · ESHospital Pablo Tobon Uribe · COUniversity of Lübeck · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the

Indexed as

Polymorphism, Single NucleotideAdolescentBrainCell Cycle ProteinsChildDe Lange SyndromeHumansMaleMuscle, SkeletalPhenotypeProtein IsoformsProteinsRNA, MessengerCell Cycle ProteinsNIPBL protein, humanProtein IsoformsProteinsRNA, Messengeradult tissuesCornelia de Lange syndromefetal tissuesmRNANIPBL isoform ANIPBL isoform BNIPBL pathological variantsplicing variants

Identifiers

PMID28241484
PMCPMC5372497
OpenAlexW2590165068

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.