Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1

Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma

(2022) Kiril Malovitski et al.   GENETICS IN MEDICINE

Co‐existence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence

(2022) Mor Pavlovsky et al.   BRITISH JOURNAL OF DERMATOLOGY

Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome

(2022) Deborah Salik et al.   PEDIATRIC DERMATOLOGY

Identification of clinically useful predictive genetic variants in pachyonychia congenita

(2021) L. Samuelov et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Tight Junction Proteins and the Biology of Hepatobiliary Disease

(2020) Natascha Roehlen et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Claudin-1 decrease impacts epidermal barrier function in atopic dermatitis lesions dose-dependently

(2020) Sophia Bergmann et al.   Scientific Reports

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

(2020) Liron Malki et al.   GENETICS IN MEDICINE

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

(2020) Janan Mohamad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Expression Patterns of Claudin Family Members During Tooth Development and the Role of Claudin-10 (Cldn10) in Cytodifferentiation of Stratum Intermedium

(2020) Xin Wang et al.   Frontiers in Cell and Developmental Biology

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Claudin-9 structures reveal mechanism for toxin-induced gut barrier breakdown

(2019) Alex J. Vecchio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease

(2018) I.F. Nagtzaam et al.   BRITISH JOURNAL OF DERMATOLOGY

Early-onset pediatric atopic dermatitis is characterized by T H 2/T H 17/T H 22-centered inflammation and lipid alterations

(2018) Patrick M. Brunner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

(2018) Janan Mohamad et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

(2017) Smail Hadj-Rabia et al.   GENETICS IN MEDICINE

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

(2017) Joakim Klar et al.   PLoS Genetics

The role of tight junctions in skin barrier function and dermal absorption

(2016) Katja Bäsler et al.   JOURNAL OF CONTROLLED RELEASE

Novel mutation in theCLDN1gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome

(2013) P. Kirchmeier et al.   BRITISH JOURNAL OF DERMATOLOGY

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss

(2012) Kwanghyuk Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability

(2011) Brigitte Grosse et al.   HEPATOLOGY

Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype

(2010) I.F. Nagtzaam et al.   BRITISH JOURNAL OF DERMATOLOGY

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

(2010) Masashi Akiyama   HUMAN MUTATION

Residues in a Highly Conserved Claudin-1 Motif Are Required for Hepatitis C Virus Entry and Mediate the Formation of Cell-Cell Contacts

(2009) L. Cukierman et al.   JOURNAL OF VIROLOGY

Tight junctions at a glance

(2008) M. S. Balda et al.   JOURNAL OF CELL SCIENCE

Tight junction and polarity interaction in the transporting epithelial phenotype

(2007) Marcelino Cereijido et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES