Evidence map›Paper›PMID 34360642›Full record

ArticleInternational journal of molecular sciences2021

Mutated

Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk and 13 more

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

Article in International journal of molecular sciences, 2021. 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
0.5field-weighted citation impact, top 38% 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, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. KArhiv za farmaciju · 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

23 authors at 4 institutions in 3 countries.

Christina ZeitzSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0002-3510-1712
Cécile MéjécaseSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0003-2532-4004
Christelle MichielsSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Christel CondroyerSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Juliette WohlschlegelSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0003-4317-9066
Marine FoussardSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Aline AntonioSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Vanessa DémontantSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Lisa EmmeneggerSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Audrey SchalkSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Marion NeuilléSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Elise OrhanSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0002-8306-5250
Sébastien AugustinSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Crystel BonnetSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Amrit EstivaletSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Frédéric BlondSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0002-2314-0570
Steven BlanchardIntegraGen SA, Genopole, Campus, 91000 Evry, France.
Camille AndrieuCHNO des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.
Sandra Chantot-BastaraudAPHP, Hôpital Armand-Trousseau, Département de Génétique, UF de Génétique Chromosomique, 75012 Paris, France.
Thierry LéveillardSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0001-5692-8770
Saddek Mohand-SaïdSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
José-Alain SahelSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.
Isabelle AudoSorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.ORCID 0000-0003-0698-5309
Centre National de la Recherche Scientifique · FRGenopole (France) · FRInserm · FRSorbonne Université · FR

Funding

Foundation Fighting Blindness BR-GE-0619-0761-INSERMFoundation Fighting Blindness C-CMM-0907-0428-INSERM04IHU FOReSIGHT ANR-18-IAHU-0001LABEX LIFESENSES ANR-10-LABX-65; ANR-11-IDEX-0004-0
6 · The paper itself

Abstract

The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in inherited retinal disorders (IRD), and provide transcriptomic and immunolocalization data to highlight the best candidate. The DNA of the female patient originating from a consanguineous family revealed no large duplication or deletion, but several large homozygous regions. In one of these, a homozygous frameshift variant, c.244_246delins17 p.(Trp82Valfs*4); predicted to lead to a nonfunctional protein, was identified in

Indexed as

Genes, RecessiveMutationAdultCone-Rod DystrophiesFemaleHumansMaleMitochondrial ProteinsPedigreePhenotypePotassium Channelsmitochondrial K(ATP) channelMitochondrial ProteinsPotassium Channelscandidate geneCCDC51inner segmentsmitochondrial proteinMITOKretinaretinitis pigmentosarod-cone dystrophy

Identifiers

PMID34360642
PMCPMC8346125
OpenAlexW3183761944

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.