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Nicolas Grillet et al.
NEURON (2009)
Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23
Lifeng Pan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth
Gaelle Lefevre et al.
DEVELOPMENT (2008)
Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
David S. Williams
VISION RESEARCH (2008)
PDZ domain binding selectivity is optimized across the mouse proteome
Michael A. Stiffler et al.
SCIENCE (2007)
A novel gene for Usher syndrome type 2:: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
Inga Ebermann et al.
HUMAN GENETICS (2007)
Usher syndrome:: molecular links of pathogenesis, proteins and pathways
Hannie Kremer et al.
HUMAN MOLECULAR GENETICS (2006)
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
A-F Roux et al.
JOURNAL OF MEDICAL GENETICS (2006)
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
J Reiners et al.
HUMAN MOLECULAR GENETICS (2005)
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
E Kalay et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2005)
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
A El-Amraoui et al.
JOURNAL OF CELL SCIENCE (2005)
Autoinhibition of X11/Mint scaffold proteins revealed by the closed conformation of the PDZ tandem
JF Long et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2005)
Interactions in the network of Usher syndrome type 1 proteins
A Adato et al.
HUMAN MOLECULAR GENETICS (2005)
Likelihood-enhanced fast rotation functions
LC Storoni et al.
ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2004)
Mouse models of USH1C and DFNB18:: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene
KR Johnson et al.
HUMAN MOLECULAR GENETICS (2003)
Organization of signaling complexes by PDZ-domain scaffold proteins
MJ Zhang et al.
ACCOUNTS OF CHEMICAL RESEARCH (2003)
The molecular genetics of Usher syndrome
ZM Ahmed et al.
CLINICAL GENETICS (2003)
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK
DC Blaydon et al.
CLINICAL GENETICS (2003)
PDZ tandem of human syntenin: Crystal structure and functional properties
BS Kang et al.
STRUCTURE (2003)
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
D Weil et al.
HUMAN MOLECULAR GENETICS (2003)
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
B Boëda et al.
EMBO JOURNAL (2002)
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
J Siemens et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
F Di Palma et al.
NATURE GENETICS (2001)
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
KN Alagramam et al.
NATURE GENETICS (2001)
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
E Verpy et al.
NATURE GENETICS (2000)