相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss
Kwanghyuk Lee et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
Guntram Borck et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
Atteeq U. Rehman et al.
HUMAN GENETICS (2011)
Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79
Atteeq Ur Rehman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing
Shin-ichiro Kitajiri et al.
CELL (2010)
Mutations in CLDN14 are associated with different hearing thresholds
Rasheeda Bashir et al.
JOURNAL OF HUMAN GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39
Julie M. Schultz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Tight Junctions Molecular Structure Meets Function
Joerg-Dieter Schulzke et al.
MOLECULAR STRUCTURE AND FUNCTION OF THE TIGHT JUNCTION: FROM BASIC MECHANISMS TO CLINICAL MANIFESTATIONS (2009)
Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family
Emily Steed et al.
BMC CELL BIOLOGY (2009)
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan
B. Y. Choi et al.
CLINICAL GENETICS (2009)
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis
Saima Anwar et al.
JOURNAL OF HUMAN GENETICS (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Physiology and Function of the Tight Junction
James M. Anderson et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2009)
A Claudin-9-Based Ion Permeability Barrier Is Essential for Hearing
Yoko Nakano et al.
PLOS GENETICS (2009)
Kinetics of adhesion mediated by extracellular loops of claudin-2 as revealed by single-molecule force spectroscopy
Tong Seng Lim et al.
JOURNAL OF MOLECULAR BIOLOGY (2008)
Single-molecular-level study of claudin-1-mediated adhesion
Tong Seng Lim et al.
LANGMUIR (2008)
Tight junction-based epithelial microenvironment and cell proliferation
S. Tsukita et al.
ONCOGENE (2008)
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
Muhammad S. Chishti et al.
JOURNAL OF HUMAN GENETICS (2008)
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
S-I Kitajiri et al.
CLINICAL GENETICS (2007)
Mutational spectrum of MYO15A:: The large N-terminal extension of myosin XVA is required for hearing
Nevra Nal et al.
HUMAN MUTATION (2007)
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
Shahid Y. Khan et al.
HUMAN MUTATION (2007)
Tricellulin is a tight-junction protein necessary for hearing
Saima Riazuddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Distinct subdomain organization and molecular composition of a tight junction with adherens junction features
Fabio D. Nunes et al.
JOURNAL OF CELL SCIENCE (2006)
Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential
Philine Wangemann
JOURNAL OF PHYSIOLOGY-LONDON (2006)
Molecular and physiological bases of the K+ circulation in the mammalian inner ear
Hiroshi Hibino et al.
PHYSIOLOGY (2006)
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
S Riazuddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
M Wattenhofer et al.
HUMAN MUTATION (2005)
Modification of human hearing loss by plasma-membrane calcium pump PMCA2
JM Schultz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Deafness in Claudin 11-null mice reveals the critical contribution of basal cell tight junctions to stria vascularis function
A Gow et al.
JOURNAL OF NEUROSCIENCE (2004)
Compartmentalization established by claudin-11-based tight junctions in stria vascularis is required for hearing through generation of endocochlear potential
SI Kitajiri et al.
JOURNAL OF CELL SCIENCE (2004)
Expression patterns of claudins, tight junction adhesion molecules, in the inner ear
S Kitajiri et al.
HEARING RESEARCH (2004)
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
T Ben-Yosef et al.
HUMAN MOLECULAR GENETICS (2003)
Mutations of MYO6 are associated with recessive deafness, DFNB37
ZM Ahmed et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:: global implications for the epidemiology of deafness
HJ Park et al.
JOURNAL OF MEDICAL GENETICS (2003)
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
K Kurima et al.
NATURE GENETICS (2002)
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
N Liburd et al.
HUMAN GENETICS (2001)
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
ZM Ahmed et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
ER Wilcox et al.
CELL (2001)
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
S Riazuddin et al.
NATURE GENETICS (2000)
分享论文
