(Q42502045)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22329826%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology (English)

1 reference

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22 January 2020

9

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22 January 2020

author name string

S E Clements

1

1 reference

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22 January 2020

T Techanukul

2

1 reference

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22 January 2020

J E Lai-Cheong

3

1 reference

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22 January 2020

J B Mee

4

1 reference

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22 January 2020

A P South

5

1 reference

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22 January 2020

C Pourreyron

6

1 reference

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22 January 2020

N P Burrows

7

1 reference

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22 January 2020

J E Mellerio

8

1 reference

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22 January 2020

language of work or name

English

0 references

publication date

14 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22329826%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

22 January 2020

published in

1 reference

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22 January 2020

volume

167

1 reference

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22 January 2020

issue

1

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22 January 2020

page(s)

134-144

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22329826%20AND%20SRC:MED&resulttype=core&format=json

p63, a story of mice and men.

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

Identification and functional characterization of two new transcriptional variants of the human p63 gene

21 January 2018

1 reference

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

21 January 2018

1 reference

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p63 in epithelial survival, germ cell surveillance, and neoplasia

21 January 2018

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IGFBP-3 is a direct target of transcriptional regulation by DeltaNp63alpha in squamous epithelium

21 January 2018

1 reference

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p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation

21 January 2018

1 reference

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

21 January 2018

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SAM as a protein interaction domain involved in developmental regulation

21 January 2018

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p53 Family members p63 and p73 are SAM domain-containing proteins

21 January 2018

1 reference

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A C-terminal inhibitory domain controls the activity of p63 by an intramolecular mechanism

21 January 2018

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Key role of p63 in BMP-4-induced epidermal commitment of embryonic stem cells.

21 January 2018

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Differential roles of p63 isoforms in epidermal development: selective genetic complementation in p63 null mice

21 January 2018

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p63 regulates an adhesion programme and cell survival in epithelial cells

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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p63alpha and DeltaNp63alpha can induce cell cycle arrest and apoptosis and differentially regulate p53 target genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

p63 induces key target genes required for epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

DeltaNp63 knockdown mice: A mouse model for AEC syndrome

21 January 2018

1 reference

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An active role of the DeltaN isoform of p63 in regulating basal keratin genes K5 and K14 and directing epidermal cell fate

21 January 2018

1 reference

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A functional enhancer of keratin14 is a direct transcriptional target of deltaNp63.

21 January 2018

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Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

21 January 2018

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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

21 January 2018

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K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) represent the type I inner root sheath keratins of the human hair follicle.

21 January 2018

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Hair follicle-specific keratins and their diseases

21 January 2018

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More than one gene involved in monilethrix: intracellular but also extracellular players

21 January 2018

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A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

21 January 2018

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The biologically active leukotrienes. Biosynthesis, metabolism, receptors, functions, and pharmacology

21 January 2018

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Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids

21 January 2018

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Reduction of isoforms of 15-lipoxygenase (15-LOX)-1 and 15-LOX-2 in human breast cancer

21 January 2018

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The Delta Np63 alpha phosphoprotein binds the p21 and 14-3-3 sigma promoters in vivo and has transcriptional repressor activity that is reduced by Hay-Wells syndrome-derived mutations

21 January 2018

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Notch signaling is a direct determinant of keratinocyte growth arrest and entry into differentiation

21 January 2018

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

21 January 2018

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Regulation of the cyclin-dependent kinase inhibitor p57Kip2 expression by p63.

21 January 2018

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The human Cdc14 phosphatases interact with and dephosphorylate the tumor suppressor protein p53.

21 January 2018

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Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

21 January 2018

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Abnormal hair follicle development and altered cell fate of follicular keratinocytes in transgenic mice expressing DeltaNp63alpha

21 January 2018

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Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands

21 January 2018

1 reference

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p63 directly induces expression of Alox12, a regulator of epidermal barrier formation

21 January 2018

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

21 January 2018

1 reference

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P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle

21 January 2018

1 reference

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Claudin-1 is a p63 target gene with a crucial role in epithelial development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

Differential recognition of response elements determines target gene specificity for p53 and p63

21 January 2018

1 reference

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New p63 targets in keratinocytes identified by a genome-wide approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

Direct targets of the TRP63 transcription factor revealed by a combination of gene expression profiling and reverse engineering

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

p63 transcriptional regulation of epithelial integrity and cancer

21 January 2018

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Transcriptional network of p63 in human keratinocytes.

21 January 2018

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Characterization of human keratin-associated protein 1 family members

21 January 2018

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The antimicrobial protein psoriasin (S100A7) is upregulated in atopic dermatitis and after experimental skin barrier disruption.

21 January 2018

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Calgranulins S100A8 and S100A9 are negatively regulated by glucocorticoids in a c-Fos-dependent manner and overexpressed throughout skin carcinogenesis.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10888.X

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

21 January 2018

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Gene defect in ectodermal dysplasia implicates a death domain adapter in development

21 January 2018

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X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

21 January 2018

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