Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms-Reference-Cited by-同舟云学术

Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms

Published:2011-11-25 Issue:6 Volume:21 Page:1260-1271
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Fusco Francesca,Paciolla Mariateresa,Napolitano Federico,Pescatore Alessandra,D'Addario Irene,Bal Elodie,Lioi Maria Brigida,Smahi Asma,Miano Maria Giuseppina,Ursini Matilde Valeria

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/21/6/1260/17258051/ddr556.pdf

Reference59 articles.

1. Incontinentia Pigmenti (Bloch–Sulzberger syndrome);Landy;J. Med. Genet.,1993

2. Incontinentia Pigmenti;Scheuerle,2010

3. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations;Fusco;Hum. Mutat.,2008

4. Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation;Yamaoka;Cell,1998

5. Signaling to NF-kappaB;Hayden;Genes Dev.,2004

Cited by 50 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene;American Journal of Medical Genetics Part A;2024-03-27

2. Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti;2023-09-26

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

4. Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report;BMC Pediatrics;2022-06-29

5. Familial vitreoretinopathies;Clinical Ophthalmic Genetics and Genomics;2022