Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease-Reference-Cited by-同舟云学术

Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Published:2013-12-12 Issue:2 Volume:35 Page:165-177
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Conte Matilde Immacolata¹,Pescatore Alessandra¹,Paciolla Mariateresa¹,Esposito Elio¹,Miano Maria Giuseppina¹,Lioi Maria Brigida²,McAleer Maeve A.³⁴,Giardino Giuliana⁵,Pignata Claudio⁵,Irvine Alan D.³⁴⁶,Scheuerle Angela E.⁷,Royer Ghislaine⁸,Hadj-Rabia Smail⁸,Bodemer Christine⁸,Bonnefont Jean-Paul⁸,Munnich Arnold⁸,Smahi Asma⁸,Steffann Julie⁸,Fusco Francesca¹,Ursini Matilde Valeria¹

Affiliation:

1. Institute of Genetics and Biophysics ‘Adriano Buzzati-Traverso’; IGB-CNR; Naples Italy

2. University of Basilicata; Potenza 85100 Italy

3. Department of Pediatric Dermatology; Our Lady's Children's Hospital; Crumlin, Dublin12 Ireland

4. National Children's Research Centre; Our Lady's Children's Hospital Dublin; Crumlin, Dublin 12 Ireland

5. Department of Translational Medical Sciences; Federico II University; Naples 80131 Italy

6. School of Medicine; Trinity College Dublin; Dublin Ireland

7. Tesserae Genetics; Dallas Texas

8. Department of Genetics; INSERM U781, Hôpital Necker-Enfants Malades; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22483/fullpdf

Reference76 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes;Aradhya;Hum Mol Genet,2001a

3. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKKgamma);Aradhya;Am J Hum Genet,2001b

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

5. Nonsense-mediated mRNA decay: terminating erroneous gene expression;Baker;Curr Opin Cell Biol,2004

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1. NEMO reshapes the α-Synuclein aggregate interface and acts as an autophagy adapter by co-condensation with p62;Nature Communications;2023-12-19

2. An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation;Journal of Clinical Immunology;2023-10-13

3. A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins;2023-09-11

4. NEMO reshapes the protein aggregate interface and promotes aggrephagy by co-condensation with p62;2023-06-06

5. Thrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti;International Journal of Dermatology;2023-05-22