(Q36869781)

16 August 2017

1 reference

title

A new mutation in TP63 is associated with age-related pathology (English)

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16 August 2017

author name string

Muriel Holder-Espinasse

1

1 reference

16 August 2017

Dominique Martin-Coignard

2

1 reference

16 August 2017

Fabienne Escande

3

1 reference

16 August 2017

Sylvie Manouvrier-Hanu

4

1 reference

16 August 2017

publication date

4 July 2007

1 reference

European Journal of Human Genetics

16 August 2017

published in

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16 August 2017

volume

15

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16 August 2017

issue

11

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16 August 2017

page(s)

1115-1120

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Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child

16 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

The p63 gene in EEC and other syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

TP63 gene mutation in ADULT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

A mutation of the p63 gene in non-syndromic cleft lip.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Mutations in different components of FGF signaling in LADD syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

p63 heterozygous mutant mice are not prone to spontaneous or chemically induced tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

p63α Mutations Lead to Aberrant Splicing of Keratinocyte Growth Factor Receptor in the Hay-Wells Syndrome

21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

p63 is a p53 homologue required for limb and epidermal morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

p63 identifies keratinocyte stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Differential expression of p63 isoforms in female reproductive organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

p63 deficiency activates a program of cellular senescence and leads to accelerated aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

p63 protects the female germ line during meiotic arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Zebrafish DeltaNp63 is a direct target of Bmp signaling and encodes a transcriptional repressor blocking neural specification in the ventral ectoderm

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Rapp-Hodgkin syndrome and the tail of p63

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

P63 and P73: P53 mimics, menaces and more

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

inferred from DOI database lookup

7 January 2021

based on heuristic

Roles of p63 in differentiation of Müllerian duct epithelial cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201888

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201888

1 reference

16 August 2017

1 reference