(Q28145744)

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

scientific article (publication date: 25 May 2000)

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

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Teresa Esposito

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T Esposito

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Fernando Gianfrancesco

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F Gianfrancesco

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P Vabres

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S Wiemann

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author name string

A Smahi

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G Courtois

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S Yamaoka

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S Heuertz

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A Israël

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N S Heiss

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S M Klauck

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P Kioschis

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A Poustka

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T Bardaro

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A Ciccodicola

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M D'Urso

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H Woffendin

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T Jakins

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D Donnai

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H Stewart

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S J Kenwrick

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S Aradhya

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T Yamagata

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M Levy

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R A Lewis

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D L Nelson

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language of work or name

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publication date

25 May 2000

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405

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6785

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466-72

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Incontinentia pigmenti (Bloch-Sulzberger syndrome).

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21 January 2018

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

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21 January 2018

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

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IkappaB kinase (IKK)-associated protein 1, a common component of the heterogeneous IKK complex

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21 January 2018

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

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

1 reference

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21 January 2018

Identification of a cell protein (FIP-3) as a modulator of NF-kappaB activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis

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Sex-dependent rearrangements resulting in CMT1A and HNPP.

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NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses

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Suppression of TNF-alpha-induced apoptosis by NF-kappaB

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Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-κB

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Absence of tumor necrosis factor rescues RelA-deficient mice from embryonic lethality

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Genetic approaches to study Rel/NF-kappa B/I kappa B function in mice

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

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Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

1 reference

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Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase

1 reference

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IKK1-deficient mice exhibit abnormal development of skin and skeleton

1 reference

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Limb and skin abnormalities in mice lacking IKKalpha

1 reference

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Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

1 reference

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

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The precursor of NF-kappa B p50 has I kappa B-like functions

1 reference

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Regulation of IkappaBbeta degradation. Similarities to and differences from IkappaBalpha

1 reference

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Characterization of a mutant cell line that does not activate NF-kappaB in response to multiple stimuli

1 reference

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The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

1 reference

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7 January 2021

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The NF-kappa B activation pathway: a paradigm in information transfer from membrane to nucleus

1 reference

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based on heuristic

inferred from DOI database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

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Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase chain reaction and single-strand conformation analysis in mutation detection enhancement gels

1 reference

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