Evidence map›Paper›PMID 33323470›Full record

ArticleJournal of medical genetics2022

Functional analysis of

Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci and 16 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
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  7. iScience · 2024
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  9. Case report: A novelFrontiers in genetics · 2024
    Article
  10. Article
  11. Targeting Prostate Cancer, the 'Tousled Way'.International journal of molecular sciences · 2023
    Review
  12. Review
  13. Article
  14. A New Case ofFrontiers in pediatrics · 2021
    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

26 authors at 11 institutions in 5 countries.

Lisa PavinatoDepartment of Medical Sciences, University of Turin, Torino, Italy.ORCID 0000-0002-7630-8365
Marina Villamor-PayàThe Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.ORCID 0000-0002-7288-4197
Maria Sanchiz-CalvoThe Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.
Cristina AndreoliDepartment of Environment and Health, Istituto Superiore di Sanità, Roma, Italy.
Marina GayThe Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.
Marta VilasecaThe Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.
Gianluca Arauz-GarofaloThe Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.
Andrea CiolfiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy.
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.ORCID 0000-0002-1556-4998
Tommaso PippucciMedical Genetics Unity, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.
Valentina ProtaDepartment of Environment and Health, Istituto Superiore di Sanità, Roma, Italy.
Diana CarliDepartment of Pediatrics and Public Health and Pediatric Sciences, University of Turin, Torino, Italy.ORCID 0000-0001-5690-6504
Elisa GiorgioDepartment of Medical Sciences, University of Turin, Torino, Italy.ORCID 0000-0003-4076-4649
Francesca Clementina RadioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy.ORCID 0000-0003-1993-8018
Vincenzo AntonaDepartment of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy.
Mario GiuffrèDepartment of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Palermo, Italy.
Kara RanguinDepartment of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France.ORCID 0000-0002-9732-8090
Cindy ColsonDepartment of Genetics, Reference center for Rare Diseases and Developmental Anomalies, Caen, France.
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
Paola DimartinoDepartment of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.
Giovanni Battista FerreroDepartment of Pediatrics and Public Health and Pediatric Sciences, University of Turin, Torino, Italy.
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy.
Simone MartinelliDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Roma, Italy.
Travis H Stracker *The Barcelona Institute of Science and Technology, Institute for Research in Biomedicine, Barcelona, Spain.ORCID 0000-0002-8650-2081
Alfredo Brusco *Department of Medical Sciences, University of Turin, Torino, Italy alfredo.brusco@unito.it.ORCID 0000-0002-8318-7231
Institute for Research in Biomedicine · ESIstituto Superiore di Sanità · ITBambino Gesù Children's Hospital · ITAllen Institute for Brain Science · USUniversity of Palermo · ITUniversity of Turin · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · ITIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · ITUniversity of Bologna · ITUniversity of Cologne · DEUniversity of Pavia · IT

Funding

1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M
1/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129724 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Joseph D. Buxbaum · 2022 to 2026
$2.0M
Population-Based Autism Genetics & Environment StudyR56MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2012 to 2013
$1.3M
NIMH NIH HHS R01 MH129724NIMH NIH HHS R56 MH097849NIMH NIH HHS U01 MH111661Wellcome Trust
6 · The paper itself

Abstract

introductionThe Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in

methodsWe re-evaluate whole exome sequencing and array-CGH data from a large cohort of patients affected by neurodevelopmental disorders. Using spatial proteomics (BioID) and single-cell gel electrophoresis, we investigated the proximity interaction landscape of

resultsWe identified three new unrelated MRD57 families. Two were sporadic and caused by a missense change (c.1652A>G; p.(Asp551Gly)) or a 39 kb deletion encompassing

conclusionOur study identified novel

Indexed as

AdolescentAdultChildChild, PreschoolChromatinCohort StudiesDNA Mutational AnalysisExome SequencingFemaleHumansMaleMetabolomeMiddle AgedMutationMutation, MissenseNeurodevelopmental DisordersChromatinProtein Kinasesprotein kinase Ugenetic researchgeneticsloss of function mutationmedicalmissensemolecular biologymutation

Identifiers

PMID33323470
PMCPMC10631451
OpenAlexW3112031935

What OpenQuestion holds

Textmetadata
LicenceTDM
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.