Evidence map›Paper›PMID 31202490›Full record

ArticleBiological psychiatry2019

Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.

Young Jae Woo, Alexandros K Kanellopoulos, Parisa Hemati, Jill Kirschen, Rebecca A Nebel, Tao Wang, Claudia Bagni, Brett S Abrahams

Abstract read
In one paragraph

Article in Biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Review
  3. SREBP modulates the NADPNature communications · 2023
    Article
  4. Review
  5. 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

8 authors.

Young Jae WooDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Alexandros K KanellopoulosDepartment of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.
Parisa HematiDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York; Human Genetics Program, Sarah Lawrence College, Yonkers, New York.
Jill KirschenDepartment of Medicine, Albert Einstein College of Medicine, Bronx, New York.
Rebecca A NebelDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York.
Tao WangDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, New York.
Claudia BagniDepartment of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland; Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.
Brett S AbrahamsDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York. Electronic address: brett.abrahams@einstein.yu.edu.

Funding

Autism Genetics, Phase II: Increasing Representation of Human DiversityR01MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2013 to 2024
$31.7M
CTSA Administrative Supplement for Informatics Core: A novel AI/ML system to predict respiratory failure and ARDS in Covid-19 patientsUL1TR002556 · NCATS · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI KELLER, MARLA J, KIM, MIMI Y · 2018 to 2022
$26.7M
CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR025750 · NCRR · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SHAMOON, HARRY · 2008 to 2011
$20.5M
TRAINING PROGRAM IN CELLULAR &MOLEC. BIOLOGY &GENETICST32GM007491 · NIGMS · YESHIVA UNIVERSITY · PI QUERY, CHARLES C · 1985 to 2021
$17.0M
Support for the Rose F. Kennedy IDDRCU54HD090260 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI MOLHOLM, SOPHIE · 2016 to 2020
$6.0M
Translational Neuroimaging CoreP30HD071593 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI WALKLEY, STEVEN UPSHAW · 2011 to 2015
$5.6M
Clinical and Translational Science Award (UL1)UL1TR000086 · NCATS · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SHAMOON, HARRY · 2012 to 2013
$5.5M
Clinical and Translational Science Award-K12KL2RR025749 · NCRR · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SHAMOON, HARRY · 2008 to 2011
$991k
Clinical and Translational Science Award-T32 (TL1)TL1RR025748 · NCRR · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SHAMOON, HARRY · 2008 to 2011
$385k
NCATS NIH HHS UL1 TR000086NCATS NIH HHS UL1 TR002556NCRR NIH HHS KL2 RR025749NCRR NIH HHS TL1 RR025748NCRR NIH HHS UL1 RR025750NICHD NIH HHS P30 HD071593NICHD NIH HHS U54 HD090260NIGMS NIH HHS T32 GM007491NIMH NIH HHS R01 MH100027
6 · The paper itself

Abstract

backgroundDeletions encompassing a four-gene region on chromosome 15 (BP1-BP2 at 15q11.2), seen at a population frequency of 1 in 500, are associated with increased risk for schizophrenia, epilepsy, and other common neurodevelopmental disorders. However, little is known in terms of how these common deletions impact cognition.

methodsWe used a Web-based tool to characterize cognitive function in a novel cohort of adult carriers and their noncarrier family members. Results from 31 carrier and 38 noncarrier parents from 40 families were compared with control data from 6530 individuals who self-registered on the Lumosity platform and opted in to participate in research. We then examined aspects of sensory and cognitive function in flies harboring a mutation in Cyfip, the homologue of one of the genes within the deletion. For the fly studies, 10 or more groups of 50 individuals per genotype were included.

resultsOur human studies revealed profound deficits in grammatical reasoning, arithmetic reasoning, and working memory in BP1-BP2 deletion carriers. No such deficits were observed in noncarrier spouses. Our fly studies revealed deficits in associative and nonassociative learning despite intact sensory perception.

conclusionsOur results provide new insights into outcomes associated with BP1-BP2 deletions and call for a discussion on how to appropriately communicate these findings to unaffected carriers. Findings also highlight the utility of an online tool in characterizing cognitive function in a geographically distributed population.

Indexed as

Adaptor Proteins, Signal TransducingAdultAnimalsChromosome AberrationsChromosomes, Human, Pair 15Cognitive DysfunctionCohort StudiesDrosophilaDrosophila ProteinsFemaleGenotypeHumansMaleMiddle AgedNeurodevelopmental DisordersPhenotypeAdaptor Proteins, Signal TransducingCYFIP1 protein, humanDrosophila ProteinsSra-1 protein, Drosophila15q11.2Cognitive impairmentCYFIP1DrosophilaNeurodevelopmental disordersOnline phenotyping

Identifiers

PMID31202490
PMCPMC6679746

What OpenQuestion holds

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Registered trials

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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.