Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus (Q24300588)

morphogenesis of an epithelium

GOA release 2020-03-11

1 reference

Receptor-interacting serine-threonine kinase 4

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Bartsocas-Papas syndrome

1 reference

Karen Mitchell

Karen

Mitchell

1 reference

19 October 2023

James O'Sullivan

James

O'Sullivan

1 reference

19 October 2023

Caterina Missero

Caterina

Missero

1 reference

19 October 2023

Ed Blair

Blair

1 reference

19 October 2023

Rose Richardson

Rose

Richardson

1 reference

19 October 2023

Beverley Anderson

Beverley

Anderson

1 reference

19 October 2023

Dario Antonini

Dario

Antonini

1 reference

19 October 2023

Jeffrey C Murray

Jeffrey C

Murray

1 reference

19 October 2023

Alan L Shanske

Alan L

Shanske

1 reference

19 October 2023

Brian C Schutte

Brian C

Schutte

1 reference

19 October 2023

Rose-Anne Romano

Rose-Anne

Romano

1 reference

19 October 2023

Satrajit Sinha

Satrajit

Sinha

1 reference

19 October 2023

Sanjeev S Bhaskar

Sanjeev S

Bhaskar

1 reference

19 October 2023

Graeme C M Black

Graeme C M

Black

1 reference

19 October 2023

Jill Dixon

Jill

Dixon

1 reference

19 October 2023

Michael J Dixon

Michael J

Dixon

1 reference

American Journal of Human Genetics

19 October 2023

language of work or name

English

0 references

publication date

13 January 2012

0 references

published in

0 references

volume

0 references

issue

0 references

page(s)

69-75

0 references

cites work

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

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

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ChIP-seq accurately predicts tissue-specific activity of enhancers

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Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch

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Protein kinase C-associated kinase (PKK), a novel membrane-associated, ankyrin repeat-containing protein kinase

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p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation

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Identification of 14-3-3sigma mutation causing cutaneous abnormality in repeated-epilation mutant mouse

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p63 is a p53 homologue required for limb and epidermal morphogenesis

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p63 induces key target genes required for epidermal morphogenesis

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27 September 2017

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RIP4 is an ankyrin repeat-containing kinase essential for keratinocyte differentiation

27 September 2017

1 reference

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Getting under the skin of epidermal morphogenesis

27 September 2017

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Stem cell fate and patterning in mammalian epidermis

27 September 2017

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27 September 2017

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A mutation in stratifin is responsible for the repeated epilation (Er) phenotype in mice

30 May 2018

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Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257958

Limb and skin abnormalities in mice lacking IKKalpha

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257958

RIP4 regulates epidermal differentiation and cutaneous inflammation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257958

IKKalpha shields 14-3-3sigma, a G(2)/M cell cycle checkpoint gene, from hypermethylation, preventing its silencing.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257958

Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257958

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22197488

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Repeated epilation: a genetic epidermal syndrome in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/22197488

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.11.013

1 reference

release_aqjonshbgvaddea7e6dbcmcmqa

Fatcat ID

0 references

1 reference

1 reference

1 reference