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IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

Journal of investigative dermatology, 2016-09, Vol.136 (9), p.1811-1819

2016

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Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti

Nature communications, 2016-09, Vol.7 (1), p.12629-12629, Article 12629

2016

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ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Communications biology, 2021-05, Vol.4 (1), p.544-544, Article 544

2021

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Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

Journal of allergy and clinical immunology, 2017-12, Vol.140 (6), p.1671-1682.e2

2017

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

Human mutation, 2008-05, Vol.29 (5), p.595-604

2008

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Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

Journal of the American Academy of Dermatology, 2011-03, Vol.64 (3), p.508-515

2011

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The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

American journal of human genetics, 2006-04, Vol.78 (4), p.691-701

2006

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Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Pediatrics (Evanston), 2002-06, Vol.109 (6), p.e97

2002

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Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

The New England journal of medicine, 2011-08, Vol.365 (7), p.620-628

2011

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Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: lack of correlation with IL1RN mutations

Annals of internal medicine, 2010-07, Vol.153 (1), p.66

2010

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Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa

Journal of allergy and clinical immunology, 2020-08, Vol.146 (2), p.452-455.e5

2020

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First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra

Pediatrics (Evanston), 2013-10, Vol.132 (4), p.e1043

2013

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In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex

Journal of investigative dermatology, 2023-12, Vol.143 (12), p.2468-2475.e6

2023

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TLR3 Deficiency in Patients with Herpes Simplex Encephalitis

Science (American Association for the Advancement of Science), 2007-09, Vol.317 (5844), p.1522-1527

2007

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AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking

American journal of human genetics, 2014-05, Vol.94 (5), p.790-797

2014

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Nature Medicine, 2017-10, Vol.23 (10), p.1226-1233

2017

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A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

Journal of allergy and clinical immunology, 2020-11, Vol.146 (5), p.1201-1204.e8

2020

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Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Gastroenterology (New York, N.Y. 1943), 2004-11, Vol.127 (5), p.1386-1390

2004

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Mutation in IL36RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome

Experimental dermatology, 2019-10, Vol.28 (10), p.1114-1117

2019

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A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.249-253

2016

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Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

Human mutation, 2014-02, Vol.35 (2), p.165-177

2014

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TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd

Human molecular genetics, 2005-12, Vol.14 (23), p.3751-3757

2005

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Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

American journal of human genetics, 2009-12, Vol.85 (6), p.903-908

2009

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IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti

ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti

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

Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations

The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

Successful treatment of generalized pustular psoriasis with the interleukin-1-receptor antagonist Anakinra: lack of correlation with IL1RN mutations

Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa

First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra

In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex

TLR3 Deficiency in Patients with Herpes Simplex Encephalitis

AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Mutation in IL36RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome

A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

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