Evidence map›Paper›PMID 32578144›Full record

ArticleAdvances in neurobiology2020

IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.

Noelle D Germain, Eric S Levine, Stormy J Chamberlain

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

Article in Advances in neurobiology, 2020. 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
2.4field-weighted citation impact, top 11% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

3 authors at 1 institution in 1 country.

Noelle D GermainDepartment of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA.
Eric S LevineDepartment of Neuroscience, University of Connecticut School of Medicine, Farmington, CT, USA. eslevine@uchc.edu.
Stormy J ChamberlainDepartment of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT, USA.
University of Connecticut · US

Funding

Regulation of UBE3A Imprinted ExpressionR01HD094953 · NICHD · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI GRAVELEY, BRENTON R. · 2018 to 2022
$2.1M
BDNF-Endocannabinoid Interactions in the Cerebral CortexR01MH094896 · NIMH · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI LEVINE, ERIC S · 2012 to 2016
$1.9M
Regulation of UBE3A genomic imprinting by tissue-specific alternative splicingR01HD068730 · NICHD · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI CHAMBERLAIN, STORMY JO · 2011 to 2015
$1.3M
Determining the roles of individual UBE3A protein isoforms in Angelman syndrome.R21HD091823 · NICHD · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI CHAMBERLAIN, STORMY JO · 2017 to 2018
$435k
NICHD NIH HHS R01 HD068730NICHD NIH HHS R01 HD094953NICHD NIH HHS R21 HD091823NIMH NIH HHS R01 MH094896
6 · The paper itself

Abstract

The chromosome 15q11-q13 region of the human genome is regulated by genomic imprinting, an epigenetic phenomenon in which genes are expressed exclusively from one parental allele. Several genes within the 15q11-q13 region are expressed exclusively from the paternally inherited chromosome 15. At least one gene UBE3A, shows exclusive expression of the maternal allele, but this allele-specific expression is restricted to neurons. The appropriate regulation of imprinted gene expression across chromosome 15q11-q13 has important implications for human disease. Three different neurodevelopmental disorders result from aberrant expression of imprinted genes in this region: Prader-Willi syndrome (PWS), Angelman syndrome (AS), and 15q duplication syndrome.

Indexed as

Angelman SyndromePrader-Willi SyndromeChromosomesGenomic ImprintingHumansAngelman syndromeAntisense oligonucleotidesChromosome 15q11-q13Dup15q syndromeGenomic imprintingPrader–Willi syndromeUBE3A

Identifiers

PMID32578144
PMCPMC9305669
OpenAlexW3037232638

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.