ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. (Q47151407)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Craig Lygate

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

J Zak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

V Vives

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

D Szumska

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

A Vernet

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

J E Schneider

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

E A Slee

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

S Joss

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Y Lacassie

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

E Chen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

L F Escobar

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

M Tucker

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

A S Aylsworth

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

H A Dubbs

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

A T Collins

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

J Andrieux

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

A Dieux-Coeslier

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

E Haberlandt

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

D Kotzot

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

D A Scott

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

M J Parker

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Z Zakaria

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Y S Choy

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

D Wieczorek

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

A M Innes

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

K R Jun

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

S Zinner

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

F Prin

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

P Pretorius

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

J A Rosenfeld

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

T J Mohun

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

X Lu

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

22 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

Cell Death & Differentiation

19 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

1973-1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/cdd.2016.76

19 March 2020

exact match

0 references

cites work

Grainyhead-like 2 downstream targets act to suppress epithelial-to-mesenchymal transition during neural tube closure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Apico-basal forces exerted by apoptotic cells drive epithelium folding

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

ASPP2 controls epithelial plasticity and inhibits metastasis through β-catenin-dependent regulation of ZEB1.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Refining analyses of copy number variation identifies specific genes associated with developmental delay

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Inappropriate p53 activation during development induces features of CHARGE syndrome

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Transcriptional landscape of the prenatal human brain

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Visualizing genomic information across chromosomes with PhenoGram

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

CDK-mediated activation of the SCF(FBXO) (28) ubiquitin ligase promotes MYC-driven transcription and tumourigenesis and predicts poor survival in breast cancer

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

The Genotype-Tissue Expression (GTEx) project

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Apicobasal polarity and neural tube closure

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Live imaging of apoptosis in a novel transgenic mouse highlights its role in neural tube closure.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Calpains: an elaborate proteolytic system

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

A copy number variation morbidity map of developmental delay

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

A comprehensive testing protocol for MRI neuroanatomical segmentation techniques: Evaluation of a novel lateral ventricle segmentation method

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

The circadian mutation PER2(S662G) is linked to cell cycle progression and tumorigenesis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Vital role of the calpain-calpastatin system for placental-integrity-dependent embryonic survival

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Calpain 8/nCL-2 and calpain 9/nCL-4 constitute an active protease complex, G-calpain, involved in gastric mucosal defense

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

ASPP2 binds Par-3 and controls the polarity and proliferation of neural progenitors during CNS development

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Apoptosis-stimulating protein of p53 (ASPP2) heterozygous mice are tumor-prone and have attenuated cellular damage-response thresholds

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

CHARGE syndrome: an update

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

23 May 2018

A Mouse for All Reasons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

ASPP2 is a haploinsufficient tumor suppressor that cooperates with p53 to suppress tumor growth

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

m-Calpain is required for preimplantation embryonic development in mice.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

ASPP1 and ASPP2: common activators of p53 family members

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

The human genome browser at UCSC

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

ASPP proteins specifically stimulate the apoptotic function of p53

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

The morphology of heart development in Xenopus laevis.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

A chromosomal deletion map of human malformations.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Structure of the p53 tumor suppressor bound to the ankyrin and SH3 domains of 53BP2

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Clinical characterization of DISP1 haploinsufficiency: A case report

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Are encephaloceles neural tube defects?

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

High-frequency developmental abnormalities in p53-deficient mice.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5136487

Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCDD.2016.76

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FCDD.2016.76

Microdissection-based high-resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

21 January 2018

1 reference

12 December 2020

Chromosomal map of human brain malformations

1 reference

12 December 2020

A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12

1 reference

12 December 2020

Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population

1 reference

12 December 2020

FBXO28is a critical gene of the 1q41q42 microdeletion syndrome

1 reference

12 December 2020

A subset of p53-deficient embryos exhibit exencephaly

1 reference

12 December 2020

A new episcopic method for rapid 3-D reconstruction: applications in anatomy and embryology

1 reference

12 December 2020

Identifiers

DOI

10.1038/CDD.2016.76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

release_ao2d773nebhircda6bcol3x2yu

19 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ao2d773nebhircda6bcol3x2yu

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27447114%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference