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

Incontinentia pigmenti diagnostic criteria update

(2013) S. Minić et al.   CLINICAL GENETICS

Driving past four-stranded snags

(2013) Sergei M. Mirkin   NATURE

Microhomology-mediated End Joining and Homologous Recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells

(2013) L. N. Truong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

(2013) Hannah Verdin et al.   PLoS Genetics

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

(2012) Jacinta Bustamante et al.   Annals of the New York Academy of Sciences

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

(2012) Orianne Philippe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurological findings in incontinentia pigmenti; a review

(2012) Marije E.C. Meuwissen et al.   European Journal of Medical Genetics

NF- B, the first quarter-century: remarkable progress and outstanding questions

(2012) M. S. Hayden et al.   GENES & DEVELOPMENT

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

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

(2011) Francesca Fusco et al.   HUMAN MOLECULAR GENETICS

Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene

(2010) Helen Fryssira et al.   ACTA PAEDIATRICA

The LCR at the IKBKG Locus Is Prone to Recombine

(2010) Francesca Fusco et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

“Without Ub I am nothing”: NEMO as a multifunctional player in ubiquitin-mediated control of NF-κB activation

(2010) Jérémie Gautheron et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology

(2010) J. Gautheron et al.   HUMAN MOLECULAR GENETICS

NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

(2010) Pa-Fan Hsiao et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

The Role of Ubiquitin in NF-κB Regulatory Pathways

(2009) Brian Skaug et al.   Annual Review of Biochemistry

Microdeletion/duplication at the Xq28 IPlocuscauses a de novoIKBKG/NEMO/IKKgammaexon4_10 deletion in families with incontinentia pigmenti

(2009) Fusco Francesca et al.   HUMAN MUTATION

DARPin-Assisted Crystallography of the CC2-LZ Domain of NEMO Reveals a Coupling between Dimerization and Ubiquitin Binding

(2009) Olivera Grubisha et al.   JOURNAL OF MOLECULAR BIOLOGY

Structural Basis for Recognition of Diubiquitins by NEMO

(2009) Yu-Chih Lo et al.   MOLECULAR CELL

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Prospects for Treatment of Pediatric Vitreoretinal Diseases with Vascular Endothelial Growth Factor Inhibition

(2009) Kristie L. Lin et al.   Seminars in Ophthalmology

X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation

(2008) Anthony J. Mancini et al.   ARCHIVES OF DERMATOLOGY

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

(2008) Francesca Fusco et al.   HUMAN MUTATION

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

(2008) Bryn H. Salt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway

(2008) Timothy T. Chang et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Glucose-6-phosphate dehydrogenase deficiency

(2008) MD Cappellini et al.   LANCET