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Human Polyclonal USH1C Primary Antibody für WB - ABIN1881984
Yan, Pan, Chen, Wu, Zhang: The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. in Proceedings of the National Academy of Sciences of the United States of America 2010
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Human Polyclonal USH1C Primary Antibody für IHC (p), IHC - ABIN250190
Zallocchi, Sisson, Cosgrove: Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. in Biochemistry 2010
Show all 2 Pubmed References
Human Polyclonal USH1C Primary Antibody für ICC, IF - ABIN4364528
Pan, Askew, Galvin, Heman-Ackah, Asai, Indzhykulian, Jodelka, Hastings, Lentz, Vandenberghe, Holt, Géléoc: Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. in Nature biotechnology 2017
Human Polyclonal USH1C Primary Antibody für ICC, IF - ABIN4364529
McConnell, Benesh, Mao, Tabb, Tyska: Proteomic analysis of the enterocyte brush border. in American journal of physiology. Gastrointestinal and liver physiology 2011
Mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.
Harmonin can adopt two different structural states, 'open' and 'closed', as a result of the self-interaction between its domains.
In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 (zeige USH2A Antikörper) proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2 (zeige USH2A Antikörper).
ANKS4B, and MYO7B (zeige MYO7B Antikörper) form a stable ternary complex for anchoring microvilli tip-link cadherins
harmonin and villin autoantibodies are sensitive and specific markers of IPEX (zeige FOXP3 Antikörper), differentiate IPEX (zeige FOXP3 Antikörper), including atypical cases, from other early childhood disorders associated with enteropathy
We localized proteins encoded by the top two regulated genes, TBL1X (zeige TBL1X Antikörper) and USH1C, using immunohistochemistry to placental stem and anchoring villi associated with active contractile function.
Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia
Pathogenic mutations in MYO7A (zeige MYO7A Antikörper), USH1C, and USH1G (zeige USH1G Antikörper) have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.
Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin.
Harmonin enhances voltage-dependent facilitation of Cav1.3 (zeige CACNA1D Antikörper) channels and synchronous exocytosis in mouse inner hair cells.
MYO7A (zeige MYO7A Antikörper), USH1G (Sans) and CDH23 (zeige CDH23 Antikörper) form the upper tip-link complex in adult mice, likely in combination with USH1C (harmonin).
examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a (zeige MYO7A Antikörper), Pcdh15 (zeige PCDH15 Antikörper) and Sans in the inner ear
Cadherin-23 (zeige CDH23 Antikörper), myosin VIIa (zeige MYO7A Antikörper) and harmonin form a ternary complex and interact with phospholipids.
The fact that Ush1c expression is much higher in the ear than in the eye suggests a different role for Ush1c in ear function than in the eye and may explain why Ush1c mutant mice do not recapitulate vision defects.
forms a complex with cadherin 23 (zeige CDH23 Antikörper) by means of PDZ-domain (zeige INADL Antikörper) interactions
the shaping of the hair bundle relies on a functional unit composed of myosin VIIa (zeige MYO7A Antikörper), harmonin b and cadherin 23 (zeige CDH23 Antikörper) that is essential to ensure the cohesion of the stereocilia
Harp (zeige C5orf13 Antikörper) + harmonin constitute a scaffolding complex to facilitate signal transduction in epithelia.
Rac-DOCK4-actin-binding protein harmonin-activated signaling pathway is possibly involved in regulating actin cytoskeleton organization in stereocilia of the inner ear.
harmonin is a upper tip-link density component and contributes to establishing the sensitivity of mechanotransduction channels to displacement.
This study shows that visual defects associated with loss of ush1c function in zebrafish can be detected from the onset of vision.
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene.
, autoimmune enteropathy-related antigen AIE-75
, renal carcinoma antigen NY-REN-3
, usher syndrome type-1C protein
, PDZ domain-containing protein
, Usher syndrome 1C homolog
, usher syndrome type-1C protein homolog
, harmonin a1
, Usher syndrome 1C (autosomal recessive, severe)
, harmonin pseudogene
, USH1 protein network component harmonin L homeolog
, Usher syndrome 1C L homeolog