Evidence map›Paper›PMID 39743596›Full record

ArticleNature2025

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Ce Zhang, Dan Liang, A Gulhan Ercan-Sencicek, Aybike S Bulut, Joelly Cortes, Iris Q Cheng, Octavian Henegariu, Sayoko Nishimura, Xinyuan Wang, A Buket Peksen and 22 more

Abstract read
In one paragraph

Article in Nature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Understanding the Molecular Basis of Miller-Dieker Syndrome.International journal of molecular sciences · 2025
    Review
  11. The Molecular Basis of Amino Acids Sensing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Review
  12. 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

32 authors.

Ce ZhangInterdepartmental Neuroscience Program, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-2736-8791
Dan LiangDepartment of Neuroscience, Yale School of Medicine, New Haven, CT, USA.
A Gulhan Ercan-SencicekDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-2838-3341
Aybike S BulutDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0009-0009-8210-9002
Joelly CortesDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0009-0000-8432-1503
Iris Q ChengDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0009-0009-7723-1038
Octavian HenegariuDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-8971-1049
Sayoko NishimuraDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0009-0008-8396-1267
Xinyuan WangDepartment of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3107-8359
A Buket PeksenDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Yutaka TakeoDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0009-0009-8198-2870
Caner CaglarDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
TuKiet T LamKeck MS and Proteomics Resource, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-4850-3462
Merve Nur KorogluDepartment of Biostatistics and Bioinformatics, Health Sciences Institute, Acibadem University, Istanbul, Turkey.
Anand NarayananYale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Francesc Lopez-GiraldezYale Center for Genome Analysis, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-7476-9822
Danielle F MiyagishimaMD-PhD Program, Yale School of Medicine, New Haven, CT, USA.
Ketu Mishra-GorurDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-3182-4411
Tanyeri BarakDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Katsuhito YasunoDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-3606-532X
E Zeynep Erson-OmayDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-1839-5912
Cengiz YalcinkayaDepartment of Neurology, Cerrahpasa Medical School, Istanbul University Cerrahpasa, Istanbul, Turkey.ORCID http://orcid.org/0000-0002-3443-8524
Guilin WangYale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Shrikant ManeYale Center for Genome Analysis, Yale University, New Haven, CT, USA.
Hande KaymakcalanDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-7736-7634
Aslan GuzelDepartment of Neurosurgery, Faculty of Medicine, Bahcesehir University, Istanbul, Turkey.
A Okay CaglayanDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-2332-322X
Beyhan TuysuzDepartment of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University Cerrahpasa, Istanbul, Turkey.
Nenad SestanDepartment of Neuroscience, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-0966-9619
Murat GunelDepartment of Neuroscience, Yale School of Medicine, New Haven, CT, USA. murat.gunel@yale.edu.ORCID http://orcid.org/0000-0002-2290-7055
Angeliki LouviDepartment of Neuroscience, Yale School of Medicine, New Haven, CT, USA. angeliki.louvi@yale.edu.ORCID http://orcid.org/0000-0003-1737-8707
Kaya BilguvarDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA. kaya.bilguvar@yale.edu.ORCID http://orcid.org/0000-0002-7313-7652

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
A Multidisciplinary Center for Developing Human and Non-human Primate Brain Cell AtlasesUM1MH130991 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Hao Huang, ARNOLD KRIEGSTEIN · 2022 to 2026
$25.2M
Yale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8M
M-SCORCH: Methamphetamine use disorder data generation center for Single Cell Opioid Responses in the Context of HIVU01DA053628 · NIDA · YALE UNIVERSITY · PI HO, YA-CHI, SESTAN, NENAD · 2021 to 2025
$9.5M
1/2 Cell Type and Region-Specific Regulatory Networks in Human Brain Development and DisordersU01MH116488 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2018 to 2022
$6.5M
Developmental cell census of human and non-human primate brainU01MH124619 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2020 to 2022
$3.3M
Gene Discovery in Recessive Structural Brain Disorders through Whole Exome SequenRC2NS070477 · NINDS · YALE UNIVERSITY · PI GUNEL, MURAT · 2009 to 2010
$2.9M
A Gene-Network Discovery Approach to Structural Brain DisordersR01HD110693 · NICHD · YALE UNIVERSITY · PI Kaya Bilguvar, Angeliki Louvi · 2023 to 2026
$2.7M
1/2 Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentR01MH122678 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2023 to 2025
$2.2M
Disease Gene Discovery in Structural Brain DisordersR01MH103616 · NIMH · YALE UNIVERSITY · PI BILGUVAR, KAYA, GUNEL, MURAT · 2014 to 2015
$1.5M
1/2 Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentU01MH122678 · NIMH · YALE UNIVERSITY · PI SESTAN, NENAD · 2021 to 2022
$1.4M
NCATS NIH HHS UL1 TR001863NHGRI NIH HHS UM1 HG006504NICHD NIH HHS R01 HD110693NIDA NIH HHS U01 DA053628NIGMS NIH HHS T32 GM007205NIH HHS S10 OD018034NIH HHS S10 OD019967NIH HHS S10 OD030363NIMH NIH HHS R01 MH103616NIMH NIH HHS R01 MH122678NIMH NIH HHS U01 MH116488NIMH NIH HHS U01 MH122678NIMH NIH HHS U01 MH124619NIMH NIH HHS UM1 MH130991NINDS NIH HHS RC2 NS070477
6 · The paper itself

Abstract

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions

Indexed as

Classical Lissencephalies and Subcortical Band HeterotopiasSignal TransductionTOR Serine-Threonine KinasesCerebral CortexChromosomes, Human, Pair 17FemaleHumansMaleMechanistic Target of Rapamycin Complex 1MutationOrganoidsMechanistic Target of Rapamycin Complex 1MTOR protein, humanTOR Serine-Threonine Kinases

Identifiers

PMID39743596
PMCPMC11798849

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.