Evidence map›Paper›PMID 30190613›Full record

ArticleScientific reports2018

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.

Yi Li, Matthew J Barkovich, Celeste M Karch, Ryan M Nillo, Chun-Chieh Fan, Iris J Broce, Chin Hong Tan, Daniel Cuneo, Christopher P Hess, William P Dillon and 15 more

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

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 21% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Social and emotional learning in the cerebellum.Nature reviews. Neuroscience · 2024
    Review
  4. Cognitive-Affective Functions of the Cerebellum.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023
    Article
  5. Frontiers in molecular neuroscience · 2022
    Article
  6. Review
  7. Review
  8. Review
  9. 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

25 authors at 5 institutions in 2 countries.

Yi LiNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA. yi.li@ucsf.edu.
Matthew J BarkovichNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.ORCID 0000-0002-8257-423X
Celeste M KarchDepartment of Psychiatry, Washington University, St. Louis, MO, 63110, USA.
Ryan M NilloNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Chun-Chieh FanDepartment of Cognitive Sciences, University of California, San Diego, La Jolla, CA, 92093, USA.ORCID 0000-0001-9437-2128
Iris J BroceNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Chin Hong TanNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.ORCID 0000-0002-0980-9936
Daniel CuneoNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Christopher P HessNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
William P DillonNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Orit A GlennNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Christine M GlastonburyNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Nicholas OlneyMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.
Jennifer S YokoyamaMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.
Luke W BonhamMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.
Bruce MillerMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.
Aimee KaoMemory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA, 94158, USA.
Nicholas SchmanskyAthinoula A. Martinos Center, Harvard Medical School, Charlestown, MA, 02129, USA.
Bruce FischlAthinoula A. Martinos Center, Harvard Medical School, Charlestown, MA, 02129, USA.
Ole A AndreassenNORMENT Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Terry JerniganDepartment of Cognitive Sciences, University of California, San Diego, La Jolla, CA, 92093, USA.
Anders DaleDepartment of Cognitive Sciences, University of California, San Diego, La Jolla, CA, 92093, USA.
A James BarkovichNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Rahul S DesikanNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA.
Leo P SugrueNeuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, 94143, USA. leo.sugrue@ucsf.edu.
University of California, San Francisco · USUniversity of California San Diego · USHarvard University · USOslo University Hospital · NOWashington University in St. Louis · US

Funding

EPIDEMIOLOGY OF DEMENTIA IN THE FRAMINGHAM STUDYR01AG008122 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI AU, RHODA, SESHADRI, SUDHA · 1989 to 2015
$14.4M
MRI, Genetics &Cognitive Precursors of AD &DementiaR01AG016495 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI AU, RHODA · 1999 to 2016
$12.5M
The Human Connectome Project (HCP)U01MH093765 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI ROSEN, BRUCE R · 2010 to 2014
$12.1M
Project 4P41EB015896 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI ROSEN, BRUCE R · 2012 to 2018
$9.8M
Creating a Pediatric Imaging-Genomics Data ResourceRC2DA029475 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHANG, LINDA, DALE, ANDERS M · 2009 to 2011
$9.1M
Neuropathology of CTE and Delayed Effects of TBI: Toward In-Vivo DiagnosticsU01NS086625 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DAMS-O'CONNOR, KRISTEN · 2014 to 2017
$6.1M
Biomedical Imaging for Clinician ScientistsT32EB001631 · NIBIB · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI THOMAS M LINK · 2005 to 2026
$5.6M
FreeSurfer Development, Maintenance, and HardeningR01EB023281 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI Bruce Fischl, Douglas Nowlin Greve · 2016 to 2026
$5.6M
A Longitudinal Analysis Stream for FreeSurferR01NS083534 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Bruce Fischl · 2014 to 2026
$4.6M
Mapping Individual Cognitive Differences to Neural Variance and School ReadinessR01HD061414 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI JERNIGAN, TERRY L. · 2010 to 2014
$3.3M
Algorithms for MR and OCT-based Architectonic and Laminar SegmentationR01EB019956 · NIBIB · MASSACHUSETTS GENERAL HOSPITAL · PI FISCHL, BRUCE · 2015 to 2018
$2.4M
Software Tools for Automated Modeling of White Matter Fascicles from Diffusion MRR01NS070963 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI FISCHL, BRUCE · 2011 to 2015
$2.3M
NCRR NIH HHS S10 RR019307NCRR NIH HHS S10 RR023043NCRR NIH HHS S10 RR023401NIA NIH HHS K01 AG046374NIA NIH HHS K01 AG049152NIA NIH HHS R01 AG008122NIA NIH HHS R01 AG016495NIBIB NIH HHS P41 EB015896NIBIB NIH HHS R01 EB006758NIBIB NIH HHS R01 EB019956NIBIB NIH HHS R01 EB023281NIBIB NIH HHS R21 EB018907NIBIB NIH HHS T32 EB001631NICHD NIH HHS R01 HD061414NIDA NIH HHS RC2 DA029475NIDDK NIH HHS R21 DK108277NIMH NIH HHS U01 MH093765NINDS NIH HHS R01 NS070963NINDS NIH HHS R01 NS083534NINDS NIH HHS R21 NS072652NINDS NIH HHS U01 NS086625
6 · The paper itself

Abstract

Tuberous sclerosis complex (TSC), a heritable neurodevelopmental disorder, is caused by mutations in the TSC1 or TSC2 genes. To date, there has been little work to elucidate regional TSC1 and TSC2 gene expression within the human brain, how it changes with age, and how it may influence disease. Using a publicly available microarray dataset, we found that TSC1 and TSC2 gene expression was highest within the adult neo-cerebellum and that this pattern of increased cerebellar expression was maintained throughout postnatal development. During mid-gestational fetal development, however, TSC1 and TSC2 expression was highest in the cortical plate. Using a bioinformatics approach to explore protein and genetic interactions, we confirmed extensive connections between TSC1/TSC2 and the other genes that comprise the mammalian target of rapamycin (mTOR) pathway, and show that the mTOR pathway genes with the highest connectivity are also selectively expressed within the cerebellum. Finally, compared to age-matched controls, we found increased cerebellar volumes in pediatric TSC patients without current exposure to antiepileptic drugs. Considered together, these findings suggest that the cerebellum may play a central role in TSC pathogenesis and may contribute to the cognitive impairment, including the high incidence of autism spectrum disorder, observed in the TSC population.

Indexed as

Gene Expression Regulation, NeoplasticAdolescentAdultAgedAged, 80 and overCerebellumChildChild, PreschoolFemaleHumansInfantInfant, NewbornMaleMiddle AgedNeurodevelopmental DisordersTuberous SclerosisTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 Protein

Identifiers

PMID30190613
PMCPMC6127129
OpenAlexW2889186502

What OpenQuestion 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 OpenQuestion graph.