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Article

The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti.

Journal of Korean medical science - 1 Oct 2010

Song Min-Jung, Chae Jong-Hee, Park Eun-Ae, Ki Chang-Seok

Abstract excerpt

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-κB essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to...

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Identifiers

PMID: 20890435
DOI: 10.3346/jkms.2010.25.10.1513
PMCID: PMC2946664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti.PMID 20890435Read ↗

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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.Semantic proximity Read ↗

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

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

Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.Semantic proximity Read ↗

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Semantic proximity Read ↗

[From gene to disease; incontinentia pigmenti and the NEMO-gene].Semantic proximity Read ↗

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP MalesSemantic proximity Read ↗

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.Semantic proximity Read ↗

Incontinentia pigmenti in a newborn with NEMO mutation.Semantic proximity Read ↗

De novo NEMO gene deletion (delta4-10)--a cause of incontinentia pigmenti in a female infant: a case report.Semantic proximity Read ↗

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.Semantic proximity Read ↗

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