Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis. (Q55498386)

13 July 2018

title

Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis. (English)

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13 July 2018

3

Maranke I Koster

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13 July 2018

author name string

Veronica G Beaudry

series ordinal

1

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13 July 2018

Navneeta Pathak

series ordinal

2

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13 July 2018

Laura D Attardi

series ordinal

4

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13 July 2018

language of work or name

English

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publication date

1 September 2009

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13 July 2018

American Journal of Medical Genetics

published in

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13 July 2018

volume

149A

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13 July 2018

issue

9

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13 July 2018

page(s)

1952-1957

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13 July 2018

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

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1 reference

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p63, cell adhesion and survival

15 July 2018

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Relationships between p63 binding, DNA sequence, transcription activity, and biological function in human cells

15 July 2018

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p63 regulates proliferation and differentiation of developmentally mature keratinocytes

15 July 2018

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The desmosome: cell science lessons from human diseases

15 July 2018

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

15 July 2018

1 reference

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The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity.

15 July 2018

1 reference

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

15 July 2018

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15 July 2018

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Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.

15 July 2018

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

15 July 2018

1 reference

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PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3982294

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

15 July 2018

1 reference

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p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

15 July 2018

1 reference

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p63 is a p53 homologue required for limb and epidermal morphogenesis

15 July 2018

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Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

15 July 2018

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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3982294

AEC-associated p63 mutations lead to alternative splicing/protein stabilization of p63 and modulation of Notch signaling

15 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3982294

Perp is a p63-regulated gene essential for epithelial integrity.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3982294

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3982294

TP63 gene mutation in ADULT syndrome

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3982294

Adult mice lacking the p53/p63 target gene Perp are not predisposed to spontaneous tumorigenesis but display features of ectodermal dysplasia syndromes

12 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19353588

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32760

1 reference

13 July 2018

PMC publication ID

3982294

1 reference

13 July 2018

PubMed publication ID

19353588

1 reference

13 July 2018