Evidence map›Paper›PMID 36835439›Full record

ArticleInternational journal of molecular sciences2023

Germline

Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D'Ursi and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 28% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Non-classical functions of nuclear pore proteins in ciliopathy.Frontiers in molecular biosciences · 2023
    Review
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

11 authors at 5 institutions in 1 country.

Elisa Adele ColomboGenetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0001-9062-3188
Michele ValianteLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy.
Matteo UggeriDepartment of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy.
Alessandro OrroDepartment of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy.ORCID 0000-0002-2581-9579
Silvia MajoreLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy.
Paola GrammaticoLaboratory of Medical Genetics, Department of Experimental Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00152 Roma, Italy.ORCID 0000-0002-6864-2574
Davide GentiliniBioinformatics and Statistical Genomics Unit, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.
Palma FinelliExperimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.ORCID 0000-0001-8464-6906
Cristina GervasiniGenetica Medica, Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, 20142 Milano, Italy.ORCID 0000-0002-1165-7935
Pasqualina D'UrsiDepartment of Biomedical Sciences National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy.ORCID 0000-0003-1554-429X
Lidia LarizzaExperimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy.ORCID 0000-0002-1367-7227
Carlo Forlanini Hospital · ITInstitute of Biomedical Technologies · ITUniversity of Milan · ITIRCCS Istituto Auxologico Italiano · ITUniversity of Pavia · IT

Funding

Italian Ministry of Health 08C624pan-European research infrastructure for Biobanking and BioMolecular Resources Research Infrastructure
6 · The paper itself

Abstract

Two adult siblings born to first-cousin parents presented a clinical phenotype reminiscent of Rothmund-Thomson syndrome (RTS), implying fragile hair, absent eyelashes/eyebrows, bilateral cataracts, mottled pigmentation, dental decay, hypogonadism, and osteoporosis. As the clinical suspicion was not supported by the sequencing of

Indexed as

Germ-Line MutationNuclear Pore Complex ProteinsRothmund-Thomson SyndromeFemaleHumansMaleProtein ConformationSiblingsNuclear Pore Complex ProteinsNup98 protein, humanendocrine perturbationFG repeatsintrinsic disordered regionsjuvenile cataractsNUP98 variantsprotein molecular modelingRothmund–Thomson spectrumwhole exome sequencing

Identifiers

PMID36835439
PMCPMC9965077
OpenAlexW4321243478

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.