Evidence map›Paper›PMID 32360592›Full record

ReviewNeuroscience2020

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders.

Michela Fagiolini, Annarita Patrizi, Jocelyn LeBlanc, Lee-Way Jin, Izumi Maezawa, Sarah Sinnett, Steven J Gray, Sophie Molholm, John J Foxe, Michael V Johnston and 8 more

Abstract readReview
In one paragraph

Review in Neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. 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

18 authors.

Michela FagioliniChildren's Hospital Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: michela.fagiolini@childrens.harvard.edu.
Annarita PatriziChildren's Hospital Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Jocelyn LeBlancChildren's Hospital Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Lee-Way JinUC Davis MIND Institute, University of California, Sacramento, CA, USA.
Izumi MaezawaUC Davis MIND Institute, University of California, Sacramento, CA, USA.
Sarah SinnettUNC Intellectual and Developmental Disabilities Research Center, University of North Carolina, Gene Therapy Center and Dept. of Ophthalmology, Chapel Hill, NC, USA; Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX, USA.
Steven J GrayUNC Intellectual and Developmental Disabilities Research Center, University of North Carolina, Gene Therapy Center and Dept. of Ophthalmology, Chapel Hill, NC, USA; Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX, USA.
Sophie MolholmThe Cognitive Neurophysiology Laboratory, Departments of Pediatrics, Neuroscience, and Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY, USA.
John J FoxeThe Cognitive Neurophysiology Laboratory, Ernest J. Del Monte Institute for Neuroscience, Department of Neuroscience, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
Michael V JohnstonKennedy Krieger Institute Intellectual and Developmental Disabilities Research Center/Hugo Moser Research Institute at Kennedy Krieger and Johns Hopkins School of Medicine, USA.
Sakkubai NaiduKennedy Krieger Institute Intellectual and Developmental Disabilities Research Center/Hugo Moser Research Institute at Kennedy Krieger and Johns Hopkins School of Medicine, USA.
Mary BlueKennedy Krieger Institute Intellectual and Developmental Disabilities Research Center/Hugo Moser Research Institute at Kennedy Krieger and Johns Hopkins School of Medicine, USA.
Ahamed HossainKennedy Krieger Institute Intellectual and Developmental Disabilities Research Center/Hugo Moser Research Institute at Kennedy Krieger and Johns Hopkins School of Medicine, USA.
Shilpa KadamKennedy Krieger Institute Intellectual and Developmental Disabilities Research Center/Hugo Moser Research Institute at Kennedy Krieger and Johns Hopkins School of Medicine, USA.
Xinyu ZhaoWaisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Quiang ChangWaisman Center, University of Wisconsin-Madison, Madison, WI, USA.
Zhaolan ZhouDepartment of Genetic, Epigenetic Institute, University of Pennsylvania Perelman School of Medicine, Intellectual and Developmental Disabilities Research Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Huda ZoghbiJan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, USA.

Funding

The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ERIC D MARSH, ROBERT Thomas SCHULTZ · 2021 to 2026
$9.2M
Postdoctoral Research in Neurodevelopmental DisordersT32HD040127 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BENJAMIN D PHILPOT, Mark D Shen · 2001 to 2026
$8.5M
The Intellectual and Developmental Disabilities Research Center at CHOP/PennU54HD086984 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI PUTT, MARY E. · 2016 to 2020
$6.3M
Waisman Intellectual and Developmental Disabilities Research Center Down Syndrome RegistryU54HD090256 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI CHANG, QIANG · 2016 to 2020
$6.0M
Support for the Rose F. Kennedy IDDRCU54HD090260 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI WALKLEY, STEVEN UPSHAW · 2016 to 2020
$6.0M
Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
Translational Regulation of Adult Neural Stem CellsR01MH078972 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI ZHAO, XINYU · 2007 to 2016
$4.3M
Visual Circuit Regression and its Rescue in RTT Mouse ModelsR01NS095959 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI CHEN, CHINFEI, FAGIOLINI, MICHELA · 2015 to 2018
$2.3M
The Role of MDM2 in FMRP regulation of neuronal developmentR01MH116582 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI ZHAO, XINYU · 2018 to 2022
$2.2M
The role of RNA binding protein in FXR1P in interneuronsR01MH118827 · NIMH · UNIVERSITY OF WISCONSIN-MADISON · PI ZHAO, XINYU · 2019 to 2023
$2.2M
Mechanisms regulating KCC2 hypofunction during refractory seizures in a mouse model of ischemic neonatal seizuresR01HD090884 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI SCAFIDI, JOSEPH · 2017 to 2021
$1.9M
Neonatal ischemic seizures: age and gender susceptibility to refractorinessR21HD073105 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI KADAM, SHILPA DATTATRAY · 2014 to 2015
$433k
Howard Hughes Medical InstituteNICHD NIH HHS P50 HD105354NICHD NIH HHS R01 HD090884NICHD NIH HHS R21 HD073105NICHD NIH HHS T32 HD040127NICHD NIH HHS U54 HD086984NICHD NIH HHS U54 HD090255NICHD NIH HHS U54 HD090256NICHD NIH HHS U54 HD090260NIMH NIH HHS R01 MH078972NIMH NIH HHS R01 MH116582NIMH NIH HHS R01 MH118827NIMH NIH HHS R56 MH113146NINDS NIH HHS R01 NS095959NINDS NIH HHS R21 NS095632
6 · The paper itself

Abstract

Disruptions in the gene encoding methyl-CpG binding protein 2 (MECP2) underlie complex neurodevelopmental disorders including Rett Syndrome (RTT), MECP2 duplication disorder, intellectual disabilities, and autism. Significant progress has been made on the molecular and cellular basis of MECP2-related disorders providing a new framework for understanding how altered epigenetic landscape can derail the formation and refinement of neuronal circuits in early postnatal life and proper neurological function. This review will summarize selected major findings from the past years and particularly highlight the integrated and multidisciplinary work done at eight NIH-funded Intellectual and Developmental Disabilities Research Centers (IDDRC) across the US. Finally, we will outline a path forward with identification of reliable biomarkers and outcome measures, longitudinal preclinical and clinical studies, reproducibility of results across centers as a synergistic effort to decode and treat the pathogenesis of the complex MeCP2 disorders.

Indexed as

Methyl-CpG-Binding Protein 2Rett SyndromeCarrier ProteinsChildDevelopmental DisabilitiesHumansMutationReproducibility of ResultsCarrier ProteinsMECP2 protein, humanMethyl-CpG-Binding Protein 2animal modelsbiomarkersneurodevelopmental disorderssignaling pathwaystranslational

Identifiers

PMID32360592
PMCPMC8025698

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.