An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

Human Mutation

Volumn 29, Issue 1, 2008, Pages 130-141

  Guipponi, Michel ^a,j   Toh, Min Yen ^a   Tan, Justin ^b   Park, Daeho ^c   Hanson, Kelly ^d   Ballana, Ester ^e   Kwong, David ^a   Cannon, Ping Z F ^a   Wu, Qingyu ^f   Gout, Alex ^a   Delorenzi, Mauro ^a,k   Speed, Terence P ^a   Smith, Richard J H ^g   Dahl, Henrik H ^h   Petersen, Michael ⁱ   Teasdale, Rohan D ^d   Estivill, Xavier ^e   Woo, Jin Park ^c   Scott, Hamish S ^a  

^a WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b BIONIC EAR INSTITUTE   (Australia)

^c Gwangju Institute of Science and Technology (GIST)   (South Korea)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^f LERNER RESEARCH INSTITUTE   (United States)

^g UNIVERSITY OF IOWA   (United States)

^h MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

ⁱ AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^j GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^k SWISS INST FOR EXP CANCER RESEARCH   (Switzerland)

more..

Author keywords

Deafness; HPN; Serine proteases; TMPRSS1; TMPRSS5

Indexed keywords

SERINE PROTEINASE; TYPE II TRANSMEMBRANE SERINE PROTEASE; TYPE III TRANSMEMBRANE SERINE PROTEASE; TYPE IV TRANSMEMBRANE SERINE PROTEASE; UNCLASSIFIED DRUG;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; CORTI ORGAN; DFNB24 GENE; DFNB25 GENE; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENE EXPRESSION PROFILING; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HEARING; HEARING LOSS; HUMAN; INNER EAR; KNOCKOUT MOUSE; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PKSR7 GENE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; RISK FACTOR; SEQUENCE ANALYSIS; SPIRAL GANGLION; TMPRSS10 GENE; TMPRSS2 GENE; TMPRSS3 GENE; TMPRSS5 GENE;

ANIMALS; EAR, INNER; HEARING LOSS; HUMANS; IMMUNOHISTOCHEMISTRY; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MUTATION; NEOPLASM PROTEINS; SERINE ENDOPEPTIDASES;

MUS;

EID: 38149089484     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20617     Document Type: Article

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