NEMOgene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients-Reference-Cited by-同舟云学术

NEMOgene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients

Published:2013-02-11 Issue:4 Volume:40 Page:272-276
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Okita Mayuko¹,Nakanishi Gen¹,Fujimoto Noriki¹,Shiomi Mariko²,Yamada Taku²,Wataya-Kaneda Mari³,Takijiri Chincho⁴,Yokoyama Yoko⁵,Sunohara Akiyo⁶,Tanaka Toshihiro¹

Affiliation:

1. Department of Dermatology; Shiga University of Medical Science; Otsu; Japan

2. Department of Dermatology; Japanese Red Cross Society Himeji Hospital; Himeji; Japan

3. Department of Dermatology; Faculty of Medicine; Osaka University; Osaka; Japan

4. Department of Dermatology; Suita Municipal Hospital; Suita; Japan

5. Department of Dermatology; Sasebo City General Hospital; Sasebo; Japan

6. Department of Dermatology; Holy Spirit Hospital; Nagoya; Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Reference19 articles.

1. Incontinentia pigmenti (Bloch-Sulzberger syndrome);Landy;J Med Genet,1993

2. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti Type 2;Parrish;Hum Mol Genet,1996

3. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti;Smahi;Nature,2000

4. A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations;Aradhya;Hum Mol Genet,2001

5. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-κB activation;Fusco;Hum Mol Genet,2004

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1. Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases;Frontiers in Medicine;2023-12-19

2. Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology;Frontiers in Pediatrics;2022-09-06

3. NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti;Clinical, Cosmetic and Investigational Dermatology;2022-05

4. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism;Journal of Human Genetics;2020-09-09

5. Questionnaire survey on association between preeclampsia and incontinentia pigmenti;Journal of Obstetrics and Gynaecology Research;2019-05-20