Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation

(2014) Juyong Chung et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

(2013) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Immunoglobulin-like domain containing receptor 1 mediates fat-stimulated cholecystokinin secretion

(2013) Rashmi Chandra et al.   JOURNAL OF CLINICAL INVESTIGATION

SLITRK6 mutations cause myopia and deafness in humans and mice

(2013) Mustafa Tekin et al.   JOURNAL OF CLINICAL INVESTIGATION

Tricellulin deficiency affects tight junction architecture and cochlear hair cells

(2013) Gowri Nayak et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

(2012) Kemal O. Yariz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2 - tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

(2012) T. Higashi et al.   JOURNAL OF CELL SCIENCE

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

(2012) Asli Sirmaci et al.   PLoS One

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

(2011) Guntram Borck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

(2011) Antje K. Huebner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

(2011) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

(2011) D Šafka Brožková et al.   CLINICAL GENETICS

A look at tricellulin and its role in tight junction formation and maintenance

(2011) Cibelle Mariano et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

LSR defines cell corners for tricellular tight junction formation in epithelial cells

(2011) S. Masuda et al.   JOURNAL OF CELL SCIENCE

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tight Junction–associated MARVEL Proteins MarvelD3, Tricellulin, and Occludin Have Distinct but Overlapping Functions

(2010) David R. Raleigh et al.   MOLECULAR BIOLOGY OF THE CELL

Tricellulin Forms a Barrier to Macromolecules in Tricellular Tight Junctions without Affecting Ion Permeability

(2009) Susanne M. Krug et al.   MOLECULAR BIOLOGY OF THE CELL

Loss of Occludin Affects Tricellular Localization of Tricellulin

(2008) Junichi Ikenouchi et al.   MOLECULAR BIOLOGY OF THE CELL