(Q24645471)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

title

DeltaNp63 knockdown mice: A mouse model for AEC syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

6

Dennis R Roop

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1

Maranke I Koster

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

author name string

Barbara Marinari

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Aimee S Payne

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

Piranit N Kantaputra

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

language of work or name

English

0 references

publication date

1 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

5 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

volume

149A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

page(s)

1942-1947

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

p63 regulates proliferation and differentiation of developmentally mature keratinocytes

5 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Mechanisms of transcriptional repression of cell-cycle G2/M promoters by p63.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Complex transcriptional effects of p63 isoforms: identification of novel activation and repression domains

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

p63 Is essential for the proliferative potential of stem cells in stratified epithelia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Cross-regulation between Notch and p63 in keratinocyte commitment to differentiation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Sorting out the p63 signaling network

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Mechanisms regulating epithelial stratification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

p63 induces key target genes required for epidermal morphogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

p63-associated disorders.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

p63 regulates an adhesion programme and cell survival in epithelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Ectodermal dysplasias: not only 'skin' deep

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Expression of murine epidermal differentiation markers is tightly regulated by restricted extracellular calcium concentrations in vitro

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2753548

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19681108

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19681108

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.32794

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32794

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19681108%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference