Variants of human CLDN9 cause mild to profound hearing loss

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies

(2021) Regie Lyn P. Santos-Cortez et al.   Genes

Molecular architecture and assembly of the tight junction backbone

(2020) Jörg Piontek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Structural dynamics of tight junctions modulate the properties of the epithelial barrier

(2019) Aapo Tervonen et al.   PLoS One

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

(2019) Claire J. Sineni et al.   HUMAN GENETICS

Tight Junctions in Cell Proliferation

(2019) Mónica Díaz-Coránguez et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

(2016) Justin A. Pater et al.   HUMAN GENETICS

Tight junctions: from simple barriers to multifunctional molecular gates

(2016) Ceniz Zihni et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

(2016) Haim Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Claudin-2-dependent paracellular channels are dynamically gated

(2015) Christopher R Weber et al.   eLife

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

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

(2012) Zil-e-Huma Bashir et al.   JOURNAL OF HUMAN GENETICS

HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

(2011) Michael Remmert et al.   NATURE METHODS

Mutations in CLDN14 are associated with different hearing thresholds

(2010) Rasheeda Bashir et al.   JOURNAL OF HUMAN GENETICS

Statistical potentials for fold assessment

(2010) Francisco Melo et al.   PROTEIN SCIENCE

Fast and accurate automatic structure prediction with HHpred

(2009) Andrea Hildebrand et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

A Claudin-9–Based Ion Permeability Barrier Is Essential for Hearing

(2009) Yoko Nakano et al.   PLoS Genetics

Formation of tight junction: determinants of homophilic interaction between classic claudins

(2007) Jörg Piontek et al.   FASEB JOURNAL