Evidence map›Paper›PMID 39638997›Full record

ArticleNature communications2024

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.

Tae-Yeon Eom, J Eric Schmitt, Yiran Li, Christopher M Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S Hansen and 12 more

Abstract read
In one paragraph

Article in Nature communications, 2024. 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
–field-weighted citation impact
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.

  1. Article
  2. Article
  3. Article
  4. 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

22 authors.

Tae-Yeon EomDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0001-7049-9079
J Eric SchmittDivision of Neuroradiology, Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID 0000-0002-7487-227X
Yiran LiDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0002-6339-5324
Christopher M DavenportDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Jeffrey SteinbergCenter for In Vivo Imaging and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0003-4110-3586
Audrey BonnanMax Planck Florida Institute for Neuroscience, Jupiter, FL, 33458, USA.
Shahinur AlamDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Young Sang RyuCenter for In Vivo Imaging and Therapeutics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Leena PaulDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Baranda S HansenCenter for Advanced Genome Engineering, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0003-2299-650X
Khaled KhairyDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0002-9274-5928
Stephane PelletierDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.ORCID 0000-0002-1127-0212
Shondra M Pruett-MillerCenter for Advanced Genome Engineering, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0002-3793-585X
David R RoalfBrain Behavior Laboratory, Neurodevelopment and Psychosis Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID 0000-0002-1728-9782
Raquel E GurBrain Behavior Laboratory, Neurodevelopment and Psychosis Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Beverly S EmanuelDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.ORCID 0000-0002-9207-6955
Donna M McDonald-McGinnDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Jesse N SmithDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Cai LiDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0002-5624-3031
Jason M ChristieMax Planck Florida Institute for Neuroscience, Jupiter, FL, 33458, USA.ORCID 0000-0003-0276-2554
Paul A NorthcottDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.ORCID 0000-0002-1220-5252
Stanislav S ZakharenkoDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. stanislav.zakharenko@stjude.org.ORCID 0000-0001-8115-202X

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Markos Leggas · 1985 to 2026
$166.9M
The DNA Damage Response and Tumorigenesis in the BrainP01CA096832 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI BAKER, SUZANNE J. · 2003 to 2025
$38.0M
Synaptic mechanisms of auditory memoryR01DC012833 · NIDCD · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI ZAKHARENKO, STANISLAV S · 2013 to 2022
$4.2M
Towards understanding cellular mechanisms of positive symptoms of schizophreniaR01MH097742 · NIMH · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI ZAKHARENKO, STANISLAV S · 2013 to 2022
$4.1M
Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndromeR01MH119185 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2019 to 2024
$3.5M
Mapping the Cerebellar Origins of Medulloblastoma SubgroupsR01CA270785 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Paul Northcott · 2023 to 2026
$2.8M
Cerebellar pathology in the absence of plasticity gatingR01NS123933 · NINDS · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI CHRISTIE, JASON M, PUGH, JASON RICHARD · 2021 to 2025
$2.3M
Motor Memory Storage in the CerebellumR01NS112289 · NINDS · UNIVERSITY OF COLORADO DENVER · PI CHRISTIE, JASON M · 2020 to 2024
$2.2M
NCI NIH HHS P01 CA096832NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA270785NIDCD NIH HHS R01 DC012833NIMH NIH HHS R01 MH097742NIMH NIH HHS R01 MH119185NINDS NIH HHS R01 NS112289NINDS NIH HHS R01 NS123933U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) CA096832U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) CA270785U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) MH119185U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS123933U.S. Department of Health & Human Services | NIH | National Institute on Deafness and Other Communication Disorders (NIDCD) DC012833
6 · The paper itself

Abstract

Neurodevelopmental disorders are thought to arise from intrinsic brain abnormalities. Alternatively, they may arise from disrupted crosstalk among tissues. Here we show the local reduction of two vestibulo-cerebellar lobules, the paraflocculus and flocculus, in mouse models and humans with 22q11.2 deletion syndrome (22q11DS). In mice, this paraflocculus/flocculus dysplasia is associated with haploinsufficiency of the Tbx1 gene. Tbx1 haploinsufficiency also leads to impaired cerebellar synaptic plasticity and motor learning. However, neural cell compositions and neurogenesis are not altered in the dysplastic paraflocculus/flocculus. Interestingly, 22q11DS and Tbx1

Indexed as

DiGeorge SyndromeHaploinsufficiencyT-Box Domain ProteinsAnimalsCell DifferentiationCerebellumChondrocytesDisease Models, AnimalFemaleHumansLearning DisabilitiesMaleMiceOsteoblastsSkullTemporal BoneT-Box Domain ProteinsTBX1 protein, humanTbx1 protein, mouse

Identifiers

PMID39638997
PMCPMC11621701

What Socratic holds

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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 Socratic graph.