(Q24538937)

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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)

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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) (English)

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hypohidrotic ectodermal dysplasia

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based on heuristic

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author name string

J Zonana

1

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M E Elder

2

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L C Schneider

3

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S J Orlow

4

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C Moss

5

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M Golabi

6

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S K Shapira

7

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P A Farndon

8

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D W Wara

9

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S A Emmal

10

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B M Ferguson

11

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language of work or name

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publication date

December 2000

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American Journal of Human Genetics

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67

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6

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1555-62

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TTRAP, a novel protein that associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor-associated factors (TRAFs), and that inhibits nuclear factor-kappa B activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

RANK is essential for osteoclast and lymph node development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

Isolation of full-length cDNA and chromosomal localization of human NF-kappaB modulator NEMO to Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

NF-kappa B RelA-deficient lymphocytes: normal development of T cells and B cells, impaired production of IgA and IgG1 and reduced proliferative responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Domain-specific interaction with the I kappa B kinase (IKK)regulatory subunit IKK gamma is an essential step in tax-mediated activation of IKK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

It's got you covered. NF-kappaB in the epidermis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Requirement for NF-kappaB in osteoclast and B-cell development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Molecular and genetic basis of X-linked immunodeficiency disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

27 September 2017

The molecular basis and treatment of primary immunodeficiency disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

30 May 2018

NEMO/IKK gamma-deficient mice model incontinentia pigmenti.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

29 November 2018

IKKgamma serves as a docking subunit of the IkappaB kinase (IKK) and mediates interaction of IKK with the human T-cell leukemia virus Tax protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

29 November 2018

Involvement of a novel Tnf receptor homologue in hair follicle induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

29 November 2018

Anhidrotic ectodermal dysplasia associated with specific antibody deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

29 November 2018

Targeted disruption of the p50 subunit of NF-kappa B leads to multifocal defects in immune responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287930

29 November 2018

[Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers]

1 reference

https://pubmed.ncbi.nlm.nih.gov/11047757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral sequential lung transplant for ectodermal dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11047757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ectodermal dysplasias--some recollections and a classification

1 reference

https://pubmed.ncbi.nlm.nih.gov/11047757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked immunodeficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/11047757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of Full-Length cDNA and Chromosomal Localization of Human NF-κB Modulator NEMO to Xq28

1 reference

https://pubmed.ncbi.nlm.nih.gov/11047757

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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1 reference

Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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