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Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population

Gastroenterology (New York, N.Y. 1943), 2016-05, Vol.150 (5), p.1171-1182

2016

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Cell-cell connectivity: desmosomes and disease

The Journal of pathology, 2012-01, Vol.226 (2), p.158-171

2012

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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

American journal of human genetics, 2016-07, Vol.99 (1), p.115-124

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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Obituary — Werner W. Franke

Cell and tissue research, 2022-12, Vol.390 (3), p.315-316

2022

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Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion

PloS one, 2015-03, Vol.10 (3), p.e0120091-e0120091

2015

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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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Key functions for gap junctions in skin and hearing

Biochemical journal, 2011-09, Vol.438 (2), p.245-254

2011

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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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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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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.126-126, Article 126

2015

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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, 2024-03, Vol.144 (9), p.2092-2096

2024

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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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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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A Novel Mechanism for Activation of GLI1 by Nuclear SMO That Escapes Anti-SMO Inhibitors

Cancer research (Chicago, Ill.), 2018-05, Vol.78 (10), p.2577-2588

2018

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Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London

British journal of dermatology (1951), 2023-03, Vol.188 (4), p.524-532

2023

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3D model of harlequin ichthyosis reveals inflammatory therapeutic targets

The Journal of clinical investigation, 2020-09, Vol.130 (9), p.4798-4810

2020

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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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Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

American journal of human genetics, 2015-03, Vol.96 (3), p.440-447

2015

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Connexins in epidermal homeostasis and skin disease

Biochimica et biophysica acta, 2012-08, Vol.1818 (8), p.1952-1961

2012

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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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Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches

Journal of investigative dermatology, 2024-04, Vol.144 (4), p.748-754

2024

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iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function

Human molecular genetics, 2014-08, Vol.23 (15), p.4064-4076

2014

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Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population

Cell-cell connectivity: desmosomes and disease

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

Obituary — Werner W. Franke

Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion

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

Key functions for gap junctions in skin and hearing

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

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

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms

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

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

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

A Novel Mechanism for Activation of GLI1 by Nuclear SMO That Escapes Anti-SMO Inhibitors

Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets

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

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Connexins in epidermal homeostasis and skin disease

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

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function

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