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iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility

Journal of investigative dermatology, 2021-04, Vol.141 (4), p.722-726

2021

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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

American journal of human genetics, 2013-08, Vol.93 (2), p.330-335

2013

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Defective channels lead to an impaired skin barrier

Journal of cell science, 2014-10, Vol.127 (Pt 20), p.4343-4350

2014

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RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

American journal of human genetics, 2012-02, Vol.90 (2), p.340-346

2012

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A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma

Journal of investigative dermatology, 2024-09, Vol.144 (9), p.2092-2096

2024

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Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway

Molecular cell, 2024-01, Vol.84 (2), p.277-292.e9

2024

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Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

American journal of human genetics, 2011-10, Vol.89 (4), p.564-571

2011

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Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile

Frontiers in immunology, 2023-11, Vol.14, p.1282577-1282577

2023

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Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

American journal of human genetics, 2016-08, Vol.99 (2), p.430-436

2016

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Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

The New England journal of medicine, 2011-10, Vol.365 (16), p.1502-1508

2011

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p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response

Nature communications, 2018-03, Vol.9 (1), p.1021-13, Article 1021

2018

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Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients

Human genomics, 2024-04, Vol.18 (1), p.38-38, Article 38

2024

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Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16

Nature communications, 2017-01, Vol.8 (1), p.14174-14174, Article 14174

2017

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The gene encoding R-spondin 4 ( RSPO4 ), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Nature genetics, 2006-11, Vol.38 (11), p.1245-1247

2006

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Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

Journal of investigative dermatology, 2018-04, Vol.138 (4), p.984-987

2018

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Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer

Gastro hep advances, 2024, Vol.3 (3), p.385-395

2024

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Rhomboid proteins: a role in keratinocyte proliferation and cancer

Cell and tissue research, 2013-02, Vol.351 (2), p.301-307

2013

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Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases

Journal of investigative dermatology, 2013-02, Vol.133 (2), p.573-576

2013

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Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event

Cancer research (Chicago, Ill.), 2005-10, Vol.65 (19), p.8597-8603

2005

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The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

BMC dermatology, 2016-06, Vol.16 (1), p.7-7, Article 7

2016

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Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia

Journal of investigative dermatology, 2008-04, Vol.128 (4), p.867-870

2008

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Su1238 SUBSTANCE P AND NK1R – A NOVEL NEUROIMMUNE PATHWAY IN GASTRO-OESOPHAGEAL REFLUX DISEASE

Gastroenterology (New York, N.Y. 1943), 2024-05, Vol.166 (5), p.S-704-S-705

2024

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R-Spondins in Cutaneous Biology: Nails and Cancer

Cell cycle (Georgetown, Tex.), 2007-04, Vol.6 (8), p.895-897

2007

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A null mutation in the Bacillus subtilis aconitase gene causes a block in Spo0A-phosphate-dependent gene expression

Journal of Bacteriology, 1997-12, Vol.179 (23), p.7351-7359

1997

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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Nature genetics, 2000-09, Vol.26 (1), p.56-60

2000

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iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Defective channels lead to an impaired skin barrier

RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma

Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway

Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion

Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions

Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16

The gene encoding R-spondin 4 ( RSPO4 ), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer

Rhomboid proteins: a role in keratinocyte proliferation and cancer

Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report

Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia

Su1238 SUBSTANCE P AND NK1R – A NOVEL NEUROIMMUNE PATHWAY IN GASTRO-OESOPHAGEAL REFLUX DISEASE

R-Spondins in Cutaneous Biology: Nails and Cancer

A null mutation in the Bacillus subtilis aconitase gene causes a block in Spo0A-phosphate-dependent gene expression

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

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