Evidence map›Paper›PMID 27447114›Full record

ArticleCell death and differentiation2016

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

J Zak, V Vives, D Szumska, A Vernet, J E Schneider, P Miller, E A Slee, S Joss, Y Lacassie, E Chen and 23 more

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

Article in Cell death and differentiation, 2016. 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
0.3field-weighted citation impact, top 34% 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

33 authors at 18 institutions in 8 countries.

J ZakLudwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
V VivesLudwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
D SzumskaDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
A VernetDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
J E SchneiderDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
P MillerLudwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
E A SleeLudwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
S JossQueen Elizabeth University Hospital Glasgow, Glasgow G51 4TF, UK.
Y LacassieDepartment of Pediatrics, Louisiana State University, New Orleans, LA 70118, USA.
E ChenKaiser Permanente, San Francisco Medical Center, San Francisco, CA 94115, USA.
L F EscobarSt Vincent Children's Hospital, Indianapolis, IN 46260, USA.
M TuckerSt Vincent Children's Hospital, Indianapolis, IN 46260, USA.
A S AylsworthDepartments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
H A DubbsChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
A T CollinsSeattle Children's Hospital, Seattle, WA 98105, USA.
J AndrieuxInstitute of Medical Genetics, Jeanne de Flandre Hospital, CHRU de Lille, Lille 59000, France.
A Dieux-CoeslierCHU Lille, Clinique de Génétique, Lille F-59000, France.
E HaberlandtClinical Department of Pediatrics, Innsbruck Medical University, Innsbruck A-6020, Austria.
D KotzotDivision of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck A-6020, Austria.
D A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
M J ParkerSheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, S10 2TH, UK.
Z ZakariaInstitute for Medical Research, Kuala Lumpur, Jalan Pahang 50588, Malaysia.
Y S ChoyPrince Court Medical Centre, Kuala Lumpur 50450, Malaysia.
D WieczorekInstitute of Human Genetics, University Clinic Essen, Duisburg-Essen University, Essen 45122, Germany.
A M InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada T3B 6A8.
K R JunDepartment of Laboratory Medicine, Haeundae Paik Hospital, Inje University, Haeundae-gu, Busan, Korea.
S ZinnerSeattle Children's Hospital, Seattle, WA 98105, USA.
F PrinThe Francis Crick Institute Mill Hill Laboratory, London NW7 1AA, UK.
C A LygateDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7BN, UK.
P PretoriusDepartment of Neuroradiology, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 9DU, UK.
J A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
T J MohunThe Francis Crick Institute Mill Hill Laboratory, London NW7 1AA, UK.
X LuLudwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.
University of Oxford · GBBaylor College of Medicine · USCentre Hospitalier Universitaire de Lille · FRInnsbruck Medical University · ATSeattle Children's Hospital · USSt Vincent Hospital · USThe Francis Crick Institute · GBChildren's Hospital of Philadelphia · USDüsseldorf University Hospital · DEInje University Haeundae Paik Hospital · KRInstitute for Medical Research · MYJohn Radcliffe Hospital · GBKaiser Permanente San Francisco Medical Center · USLouisiana State University · USQueen Elizabeth University Hospital · GBSheffield Children's Hospital · GBUniversity of Calgary · CAUniversity of North Carolina at Chapel Hill · US

Funding

6/7-Collaborative genomic studies of Tourette Disorder.R01MH115993 · NIMH · SEATTLE CHILDREN'S HOSPITAL · PI ZINNER, SAMUEL HAMILTON · 2018 to 2022
$369k
7/8-Collaborative genomic studies of Tourette DisorderR01MH092513 · NIMH · SEATTLE CHILDREN'S HOSPITAL · PI ZINNER, SAMUEL HAMILTON · 2011 to 2013
$212k
ATHEROGENIC &ANTIATHEROGENIC LIPOPROTEINS IN CADF32HL008004 · NHLBI · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI WILSON, PAUL R · 1989 to 1990
–
PERTUSSIS ADENYLATE CYCLASE: EFFECTS ON BLOOD CELLSK08HL001150 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI CONFER, DENNIS L · 1985 to 1987
–
MRI STUDY OF NORMAL BRAIN DEVELOPMENT CLINICAL COORDINATING CENTER-275023343N01HD023343 · NICHD · WASHINGTON UNIVERSITY · PI BOTTERON, KELLY · 2006 to 2006
–
British Heart Foundation FS/11/50/29038British Heart Foundation RE/08/004British Heart Foundation RG/13/8/30266NICHD NIH HHS N01 HD023343NIMH NIH HHS R01 MH092513NIMH NIH HHS R01 MH115993Wellcome Trust
6 · The paper itself

Abstract

Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes. The recently described 1q41q42 microdeletion syndrome is characterized by characteristic dysmorphic features, intellectual disability and brain morphological abnormalities, but the precise genetic basis for these abnormalities remains unknown. Here, our detailed analysis of the genetic abnormalities of 1q41q42 microdeletion cases identified TP53BP2, which encodes apoptosis-stimulating protein of p53 2 (ASPP2), as a candidate gene for brain abnormalities. Consistent with this, Trp53bp2-deficient mice show dilation of lateral ventricles resembling the phenotype of 1q41q42 microdeletion patients. Trp53bp2 deficiency causes 100% neonatal lethality in the C57BL/6 background associated with a high incidence of neural tube defects and a range of developmental abnormalities such as congenital heart defects, coloboma, microphthalmia, urogenital and craniofacial abnormalities. Interestingly, abnormalities show a high degree of overlap with 1q41q42 microdeletion-associated abnormalities. These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome, and open new avenues for investigation of the mechanisms underlying CNS abnormalities.

Indexed as

Chromosome DeletionAnimalsApoptosis Regulatory ProteinsBrainEmbryo, MammalianFemaleGene DeletionHeart VentriclesMagnetic Resonance ImagingMice, Inbred BALB CMice, Inbred C57BLNeural Tube DefectsPhenotypeSyndromeTumor Suppressor ProteinsApoptosis Regulatory ProteinsTP53BP2 protein, humanTrp53bp2 protein, mouseTumor Suppressor Proteins

Identifiers

PMID27447114
PMCPMC5136487
OpenAlexW2475926027

What OpenQuestion holds

Textmetadata
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.