A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Human Genetics

Volumn 135, Issue 5, 2016, Pages 513-524

  Ben Said, Mariem ^a   Grati, M’hamed ^b   Ishimoto, Takahiro ^c   Zou, Bing ^b   Chakchouk, Imen ^a   Ma, Qi ^b   Yao, Qi ^b,d   Hammami, Bouthaina ^e   Yan, Denise ^b   Mittal, Rahul ^b   Nakamichi, Noritaka ^c   Ghorbel, Abdelmonem ^e   Neng, Lingling ^f   Tekin, Mustafa ^b   Shi, Xiao Rui ^f   Kato, Yukio ^c   Masmoudi, Saber ^a   Lu, Zhongmin ^d   Hmani, Mounira ^a   Liu, Xuezhong ^b,g  

^a UNIVERSITY OF SFAX   (Tunisia)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c KANAZAWA UNIVERSITY   (Japan)

^d University of Miami   (United States)

^e HABIB BOURGUIBA HOSPITAL   (Tunisia)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE TRANSPORTER 1; CYSTEINE DERIVATIVE; DNA; GLYCINE DERIVATIVE; ORGANIC CATION TRANSPORTER; ORGANIC CATION TRANSPORTER 1; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE; PROLYL 4 HYDROXYLASE ALPHA 2; SERINE DERIVATIVE; THIONEINE; TRYPTOPHAN DERIVATIVE; UNCLASSIFIED DRUG; SLC22A4 PROTEIN, HUMAN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NON SYNDROMIC HEARING LOSS; CELL MEMBRANE; CHROMOSOME 5; COHORT ANALYSIS; CONCENTRATION (PARAMETERS); CONSANGUINITY; CONTROLLED STUDY; DFNB60 GENE; DISEASE COURSE; EMBRYO; ENDOTHELIUM CELL; EXOME; FEMALE; GANGLION; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENOTYPE; HAPLOTYPE; HEARING IMPAIRMENT; HEK293 CELL LINE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; LLC PK1 CELL LINE; LOD SCORE; MALE; MICROSATELLITE MARKER; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; STRIA VASCULARIS; STRIA VASCULARIS ENDOTHELIAL CELL; SURFACE PROPERTY; TELOMERE; AMINO ACID SEQUENCE; ANIMAL; C57BL MOUSE; CELL CULTURE; COCHLEA; ENDOTHELIUM; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE HOMOLOGY; SPRAGUE DAWLEY RAT;

AMINO ACID SEQUENCE; ANIMALS; CELLS, CULTURED; COCHLEA; CONSANGUINITY; ENDOTHELIUM; EXOME; FEMALE; GENES, RECESSIVE; HEARING LOSS; HEK293 CELLS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; ORGANIC CATION TRANSPORT PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RATS; RATS, SPRAGUE-DAWLEY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84962219671     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1657-7     Document Type: Article

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