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

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

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

http://www.wikidata.org/entity/Q28348814

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Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report NEMO specifically recognizes K63-linked poly-ubiquitin chains through a new bipartite ubiquitin-binding domain BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency Linear ubiquitination in immunity A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha NF-kappaB-related genetic diseases Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome.Death receptor signaling giving life to ectodermal organs.The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti Inherited disorders of human Toll-like receptor signaling: immunological implications.The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.NF-kappaB family of transcription factors: central regulators of innate and adaptive immune functions.Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels Incontinentia pigmenti: a rare genodermatosis in a male child.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Infections in patients with inherited defects in phagocytic function.Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review.New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation.X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.Incontinentia pigmenti in boys: a series and review of the literature.The zinc finger domain of IKKγ (NEMO) protein in health and disease Genodermatoses caused by genetic mosaicism.Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.Ubiquitination in disease pathogenesis and treatment.IKK-related genetic diseases: probing NF-κB functions in humans and other matters.Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies.EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.Incontinentia pigmenti with encephalocele in a neonate: a rare association.Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

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P2860

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

http://www.wikidata.org/entity/Q28348814

description

2001 nî lūn-bûn

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2001 թուականի Մարտին հրատարակուած գիտական յօդուած

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2001 թվականի մարտին հրատարակված գիտական հոդված

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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P2860

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American Journal of Human Genetics

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Atypical forms of incontinenti ...... in exon 10 of NEMO (IKK-gamma)

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A Israël

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A Rajkovic

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D L Nelson

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G Courtois

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M Levy

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R A Lewis

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S Aradhya

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P2860

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

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

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

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

A cytokine-responsive IkappaB kinase that activates the transcription factor NF-kappaB

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)

The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A

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

Cardiovascular failure in mouse embryos deficient in VEGF receptor-3

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

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10.1086/318806

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