(Q73592868)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

hypohidrotic ectodermal dysplasia

5 November 2019

main subject

1 reference

S Mansour

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Woffendin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Mitton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

I Jeffery

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Jakins

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Kenwrick

6

1 reference

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5 November 2019

V A Murday

7

1 reference

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5 November 2019

publication date

1 March 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

99

1 reference

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5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

172-177

1 reference

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Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

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/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

Incontinentia pigmenti in a newborn male infant with DNA confirmation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

NEMO/IKK gamma-deficient mice model incontinentia pigmenti.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1155%3E3.0.CO%3B2-Y

10.1002/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11241484%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference