(Q33409176)

English

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Anhidrotic ectodermal dysplasia

1 reference

based on heuristic

inferred from title

systemic inflammation

1 reference

based on heuristic

inferred from title

author name string

Takakazu Yoshioka

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Ryuta Nishikomori

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Junichi Hara

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Keiko Okada

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Yoshiko Hashii

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Ikuo Okafuji

6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Seishiro Nodomi

7

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Tomoki Kawai

8

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Kazushi Izawa

9

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Hidenori Ohnishi

10

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Takahiro Yasumi

11

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Tatsutoshi Nakahata

12

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Toshio Heike

13

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

publication date

18 July 2013

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

33

1 reference

Europe PubMed Central

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26 July 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1165-1174

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Regulation and function of NF-kappaB transcription factors in the immune system

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Control of I kappa B-alpha proteolysis by site-specific, signal-induced phosphorylation

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

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://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

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%2FS10875-013-9924-Z

21 January 2018

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

High-level expression of BCL3 differentiates t(2;5)(p23;q35)-positive anaplastic large cell lymphoma from Hodgkin disease

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9924-Z

21 January 2018

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/23864385

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphorylation of human I kappa B-alpha on serines 32 and 36 controls I kappa B-alpha proteolysis and NF-kappa B activation in response to diverse stimuli

1 reference

https://pubmed.ncbi.nlm.nih.gov/23864385

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10875-013-9924-Z

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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