A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. (Q51836565)

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scientific article published on 14 October 2005

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English	A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.	scientific article published on 14 October 2005

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

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D. Heine-Suñer

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Natalia Martinez-Pomar

1

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8 January 2020

Ivan Munoz-Saa

2

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8 January 2020

Ana Martin

4

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8 January 2020

Nuria Matamoros

6

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8 January 2020

publication date

14 October 2005

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Europe PubMed Central

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8 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

118

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8 January 2020

3-4

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8 January 2020

458-465

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PubMed publication ID

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8 January 2020

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

1 reference

https://api.crossref.org/works/10.1007%2FS00439-005-0068-Y

21 January 2018

Mature T cells depend on signaling through the IKK complex.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical Study of 40 Cases of Incontinentia Pigmenti

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age- and tissue-specific variation of X chromosome inactivation ratios in normal women

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NEMO/IKK gamma-deficient mice model incontinentia pigmenti.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The carboxyl-terminal region of IkappaB kinase gamma (IKKgamma) is required for full IKK activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The IKK complex: an integrator of all signals that activate NF-kappaB?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal survey of lymphocyte subpopulations in the first year of life.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

1 reference

https://pubmed.ncbi.nlm.nih.gov/16228229

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-005-0068-Y

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16228229%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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