USH1C

Summary

Gene Symbol: USH1C
Description: USH1 protein network component harmonin
Alias: AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst, harmonin, Usher syndrome 1C (autosomal recessive, severe), antigen NY-CO-38/NY-CO-37, autoimmune enteropathy-related antigen AIE-75, renal carcinoma antigen NY-REN-3, usher syndrome type-1C protein
Species: human
Products:     USH1C

Top Publications

  1. Lentz J, Savas S, Ng S, Athas G, Deininger P, Keats B. The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion. Hum Genet. 2005;116:225-7 pubmed
    ..A splice-site mutation, 216G-->A, in exon 3 of USH1C is associated with Acadian Usher type IC...
  2. Jaijo T, Aller E, García García G, Aparisi M, Bernal S, Avila Fernandez A, et al. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:1311-7 pubmed publisher
    ..Results must be confirmed by direct sequencing to avoid misdiagnosis, and continuous updates of the microarray should be performed to increase the efficiency and rate of detection of mutations. ..
  3. Scanlan M, Williamson B, Jungbluth A, Stockert E, Arden K, Viars C, et al. Isoforms of the human PDZ-73 protein exhibit differential tissue expression. Biochim Biophys Acta. 1999;1445:39-52 pubmed
    ..Immunohistochemical staining with anti-PDZ 73 monoclonal antibodies showed strong cytoplasmic reactivity in epithelial cells of the small intestine, colon and ..
  4. Ouyang X, Yan D, Du L, Hejtmancik J, Jacobson S, Nance W, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet. 2005;116:292-9 pubmed
    ..5, 11p15, 10q21-q22, 21q21, 10q21-q22, and 17q24-25, respectively. Mutations in five genes, including MYO7A, USH1C, CDH23, PCDH15 and SANS, have been shown to be the cause of Usher syndrome type 1B, type 1C, type 1D, type 1F and ..
  5. Ahmed Z, Bernstein S, Ahmed Z, Khan S, Griffith A, Morell R, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34 pubmed
    ..A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F. ..
  6. Ouyang X, Xia X, Verpy E, Du L, Pandya A, Petit C, et al. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet. 2002;111:26-30 pubmed
    ..USH1C encodes a PDZ-domain-containing protein, harmonin. Eight different Ush1c transcripts were identified in the mouse inner ear...
  7. Baux D, Faugère V, Larrieu L, Le Guédard Méreuze S, Hamroun D, Beroud C, et al. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes. Hum Mutat. 2008;29:E76-87 pubmed publisher
    ..of relational databases of nucleotide variations for seven genes involved in Usher syndrome (MYO7A, CDH23, PCDH15, USH1C, USH1G, USH3A and USH2A)...
  8. Saihan Z, Stabej P, Robson A, Rangesh N, Holder G, Moore A, et al. Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. Retina. 2011;31:1708-16 pubmed publisher
    ..Direct DNA sequencing of the USH1C gene was performed in two affected siblings...
  9. Ahmed Z, Smith T, Riazuddin S, Makishima T, Ghosh M, Bokhari S, et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet. 2002;110:527-31 pubmed
    Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18...

More Information

Publications70

  1. Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology. 1999;117:823-30 pubmed
    ..The identification of the autoantigen may prove useful in the approach to the pathogenesis of this poorly understood disease. ..
  2. Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt Sylla E, Gal A, et al. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis. Hum Mutat. 2001;17:34-41 pubmed
    ..MYO7A, encoding the unconventional myosin VIIA, underlies USH1B. Recently, the USH1C gene was shown to encode harmonin, a PDZ domain-containing protein...
  3. Savas S, Frischhertz B, Pelias M, Batzer M, Deininger P, Keats B. The USH1C 216G-->A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population. Hum Genet. 2002;110:95-7 pubmed
    Recently, mutations in USH1C were shown to be associated with Usher syndrome type IC, and a mutation (216G-->A) in exon 3 was identified in an Acadian family...
  4. Ebermann I, Lopez I, Bitner Glindzicz M, Brown C, Koenekoop R, Bolz H. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol. 2007;8:R47 pubmed
    ..Of these cases, 60% carried mutations of the USH1C gene, a genetic subtype that is rare outside the Acadian population. We have discovered a founder effect of the c...
  5. Reiners J, Van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005;14:3933-43 pubmed
    ..We and others recently reported that the scaffold protein harmonin (USH1C-gene product) integrates all identified USH1 molecules in a USH1-protein network...
  6. Weil D, El Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, et al. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet. 2003;12:463-71 pubmed
    ..We showed, by means of co-transfection experiments, that SANS associates with harmonin, a PDZ domain-containing protein responsible for USH1C...
  7. Scanlan M, Chen Y, Williamson B, Gure A, Stockert E, Gordan J, et al. Characterization of human colon cancer antigens recognized by autologous antibodies. Int J Cancer. 1998;76:652-8 pubmed
    ..Our results on colon cancer illustrate both the complexity and the potential of the SEREX approach for analysis of the humoral immune response against human cancer. ..
  8. Verpy E, Leibovici M, Zwaenepoel I, Liu X, Gal A, Salem N, et al. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet. 2000;26:51-5 pubmed
    ..We identified this gene (USH1C), encoding a PDZ-domain-containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas...
  9. Bitner Glindzicz M, Lindley K, Rutland P, Blaydon D, Smith V, Milla P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet. 2000;26:56-60 pubmed
    ..deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C ..
  10. Phillips J, Blanco Sanchez B, Lentz J, Tallafuss A, Khanobdee K, Sampath S, et al. Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function. Dis Model Mech. 2011;4:786-800 pubmed publisher
    ..Here we characterize two zebrafish models for a severe form of Usher syndrome, Usher syndrome type 1C (USH1C): one model is a mutant with a newly identified ush1c nonsense mutation, and the other is a morpholino knockdown ..
  11. Blanco Sanchez B, Clément A, Fierro J, Stednitz S, Phillips J, Wegner J, et al. Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins. Cell Rep. 2018;25:1281-1291.e4 pubmed publisher
    ..We found that hair bundles are thinner in homozygous grxcr1 mutants, similar to the USH1 mutants ush1c (Harmonin) and ush1ga (Sans)...
  12. Fuster García C, García García G, Jaijo T, Fornés N, Ayuso C, Fernández Burriel M, et al. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Sci Rep. 2018;8:17113 pubmed publisher
    ..The designed panel included all the USH causative genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN and CLRN1) as well as four uncertainly associated genes (HARS, ..
  13. Kluger N, Jokinen M, Lintulahti A, Krohn K, Ranki A. Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase, AIE-75, villin and Paneth cells in APECED. Clin Immunol. 2015;158:212-20 pubmed publisher
    ..Duodenal CgA and serotonin expression was absent/decreased in 50% and 66% of the patients, respectively. Constipation correlated with lacking serotonin expression and AADC antibodies (p < 0.05). ..
  14. Aparisi M, Aller E, Fuster García C, García García G, Rodrigo R, Vázquez Manrique R, et al. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis. 2014;9:168 pubmed publisher
    ..for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7)..
  15. Han S, Liu X, Xie S, Gao M, Liu F, Yu S, et al. Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy. Hum Genet. 2018;137:779-794 pubmed publisher
    ..The expression of Ush1b and Ush1c was up-regulated when Ush2a was null...
  16. Grati M, Shin J, Weston M, Green J, Bhat M, Gillespie P, et al. Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J Neurosci. 2012;32:14288-93 pubmed publisher
    ..PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which are implicated in Usher type 1 and type 2 syndromes...
  17. Chida N, Kobayashi I, Takezaki S, Ueki M, Yamazaki Y, Garelli S, et al. Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. Clin Immunol. 2015;156:36-42 pubmed publisher
    ..Our observation suggests that immunotolerance to AIE-75 depends on the peripheral mechanism, whereas the tolerance to TPH-1 depends on the central mechanisms. ..
  18. Khan S, Javed M, Qasim M, Shahzadi S, Jalil A, Rehman S. Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models. Bioinformation. 2014;10:491-5 pubmed publisher
    ..A mutation in any of these genes e.g. CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness...
  19. Trouillet A, Dubus E, Dégardin J, Estivalet A, Ivkovic I, Godefroy D, et al. Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments. Sci Rep. 2018;8:1968 pubmed publisher
    ..We show that, under normal housing conditions, Ush1g-/- and Ush1c-/- albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal ..
  20. Kruis T, Jöhrens K, Moos V, Puls I, Siegmund B, Daum S, et al. A case series in patients with enteropathy and granulomatous diseases. BMC Gastroenterol. 2015;15:62 pubmed publisher
    ..Associations of sarcoidosis and celiac disease are rare but do occur. Determining the HLA status in patients with complex autoimmune associations might help classifying involved disease entities. ..
  21. Delhommel F, Wolff N, Cordier F. (1)H, (13)C and (15)N backbone resonance assignments and dynamic properties of the PDZ tandem of Whirlin. Biomol NMR Assign. 2016;10:361-5 pubmed publisher
    ..Interestingly only two of these proteins encompass PDZ domains: Harmonin and Whirlin...
  22. Fisher O, Deng H, Liu D, Zhang Y, Wei R, Deng Y, et al. Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex. Nat Commun. 2015;6:7937 pubmed publisher
    ..We discover direct interaction between CCM2 harmonin homology domain (HHD) and the N terminus of MEKK3, and determine a 2.35 Å cocrystal structure...
  23. Nishio S, Takumi Y, Usami S. Laser-capture micro dissection combined with next-generation sequencing analysis of cell type-specific deafness gene expression in the mouse cochlea. Hear Res. 2017;348:87-97 pubmed publisher
    ..Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of expression in the spiral ..
  24. Kaur M, Panikkath D, Yan X, Liu Z, Berel D, Li D, et al. Perianal Crohn's Disease is Associated with Distal Colonic Disease, Stricturing Disease Behavior, IBD-Associated Serologies and Genetic Variation in the JAK-STAT Pathway. Inflamm Bowel Dis. 2016;22:862-9 pubmed publisher
    ..74 × 10), and extracellular matrix and scaffolding proteins (USH1C, P = 8.68 × 10; NDFIP2; TMC07, P = 8.87 × 10). Pathway analyses implicated the JAK-Stat pathway (pc = 3...
  25. Morgan C, Krey J, Grati M, Zhao B, Fallen S, Kannan Sundhari A, et al. PDZD7-MYO7A complex identified in enriched stereocilia membranes. elife. 2016;5: pubmed publisher
    ..of proteins with mass spectrometry, we demonstrate that MYO7A forms a complex with PDZD7, a paralog of USH1C and DFNB31...
  26. Abdi S, Bahloul A, Behlouli A, Hardelin J, Makrelouf M, Boudjelida K, et al. Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLoS ONE. 2016;11:e0161893 pubmed publisher
    ..able to show that the USH1G mutation is likely to affect the binding interface between the SAM domain and USH1C/harmonin. This should spur the use of 3D-structures, not only of isolated protein domains, but also of protein-protein ..
  27. Rizel L, Safieh C, Shalev S, Mezer E, Jabaly Habib H, Ben Neriah Z, et al. Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Mol Vis. 2011;17:3548-55 pubmed
    ..For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. Mutation screening was performed with direct sequencing...
  28. Overlack N, Goldmann T, Wolfrum U, Nagel Wolfrum K. Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. Invest Ophthalmol Vis Sci. 2012;53:4140-6 pubmed publisher
    ..Gene augmentation is an attractive strategy for hereditary retinal diseases. However, several USH genes, like USH1C, are expressed in various isoforms, hampering gene augmentation...
  29. Li J, He Y, Lu Q, Zhang M. Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex. Dev Cell. 2016;36:179-89 pubmed publisher
    ..we have biochemically and structurally characterized the following pairs of interactions: protocadherin 24 and Harmonin (also known as USH1C or AIE-75), Harmonin and myosin VIIb (MYO7B), Harmonin and ANKS4B, and ANKS4B and MYO7B...
  30. Zou J, Chen Q, Almishaal A, Mathur P, Zheng T, Tian C, et al. The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells. Hum Mol Genet. 2017;26:624-636 pubmed publisher
    ..The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin. However, it is unclear whether the interactions between USH1 and USH2 proteins occur in vivo and whether USH1 ..
  31. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood Evans A, Muller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A. 2002;99:14946-51 pubmed
    ..They encode the unconventional myosin VIIa, the PDZ-domain protein harmonin, and the putative adhesion receptors cadherin 23 (CDH23) and protocadherin 15 (PCDH15)...
  32. Ben Rebeh I, Grati M, Bonnet C, Bouassida W, Hadjamor I, Ayadi H, et al. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. Mol Vis. 2016;22:827-35 pubmed
    ..identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein containing ankyrin repeats and a sterile alpha motif (SAM) domain, and calcium- and integrin-..
  33. Pan L, Yan J, Wu L, Zhang M. Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. Proc Natl Acad Sci U S A. 2009;106:5575-80 pubmed publisher
    ..b>Harmonin/Ush1C is a master scaffold in the assembly of the Usher protein complexes, because harmonin is known to bind to ..
  34. Chen S, Chen F, Hsu Y, Kuo P. Systematic Analysis of Transcriptomic Profile of Renal Cell Carcinoma under Long-Term Hypoxia Using Next-Generation Sequencing and Bioinformatics. Int J Mol Sci. 2017;18: pubmed publisher
    ..The upregulated (L1CAM and FBN1) and downregulated (AUTS2, MAPT, AGT and USH1C) genes in 786-O under long-term hypoxia were also observed in clinical ccRCC samples along with malignant ..
  35. Ponnath A, Depreux F, Jodelka F, Rigo F, Farris H, Hastings M, et al. Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment. J Assoc Res Otolaryngol. 2018;19:1-16 pubmed publisher
    ..Antisense oligonucleotide (ASO) treatment of mice with the human Usher mutation, Ush1c c...
  36. Ishikawa S, Kobayashi I, Hamada J, Tada M, Hirai A, Furuuchi K, et al. Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75. Gene. 2001;267:101-10 pubmed
    ..Because of negative expression of MCC2 in a panel of cancer cell-lines compared to the corresponding normal tissues, we suggest that further study is necessary to investigate a possible role of MCC2 as a tumor suppressor. ..
  37. Katbamna B, Klutz N, Pudrith C, Lavery J, Ide C. Prenatal smoke exposure: effects on infant auditory system and placental gene expression. Neurotoxicol Teratol. 2013;38:61-71 pubmed publisher
    ..The neurological process clusters included 7 genes (EML2, OTOR, SLC26A5, TBL1X, TECTA, USH1C and USH1G) known to modulate cochlear outer hair cell motility...
  38. Khateb S, Zelinger L, Ben Yosef T, Merin S, Crystal Shalit O, Gross M, et al. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. PLoS ONE. 2012;7:e51566 pubmed publisher
    ..1220delG) leading to a frameshift (p.Gly407Glufs*56) in an alternative exon (#15) of USH1C. Screening of additional Yemenite Jewish patients revealed a total of 16 homozygous RP patients (with a carrier ..
  39. Hirai A, Tada M, Furuuchi K, Ishikawa S, Makiyama K, Hamada J, et al. Expression of AIE-75 PDZ-domain protein induces G2/M cell cycle arrest in human colorectal adenocarcinoma SW480 cells. Cancer Lett. 2004;211:209-18 pubmed
    ..Since PP2AC is known to regulate G2/M checkpoint, we suggest that AIE-75 interacts with PP2AC and prevent cells to transit mitotic phase. ..
  40. Aparisi M, García García G, Jaijo T, Rodrigo R, Graziano C, Seri M, et al. Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis. 2010;16:2948-54 pubmed
    ..One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains...
  41. Crawley S, Shifrin D, Grega Larson N, McConnell R, Benesh A, Mao S, et al. Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. Cell. 2014;157:433-446 pubmed publisher
    ..The cytoplasmic domains of microvillar protocadherins interact with the scaffolding protein, harmonin, and myosin-7b, which promote localization to microvillar tips...
  42. Ganapathy A, Pandey N, Srisailapathy C, Jalvi R, Malhotra V, Venkatappa M, et al. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS ONE. 2014;9:e84773 pubmed publisher
    ..These findings have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent. ..
  43. Yan D, Li F, Hall M, Sage C, Hu W, Giallourakis C, et al. An isoform of GTPase regulator DOCK4 localizes to the stereocilia in the inner ear and binds to harmonin (USH1C). J Mol Biol. 2006;357:755-64 pubmed
    ..Mutations in the actin bundling and PDZ domain-containing protein harmonin are the causes of Usher syndrome type 1C (USH1C), a syndrome of congenital deafness and progressive blindness, as ..
  44. Donaldson T, Jennings K, Cherep L, McNeela A, Depreux F, Jodelka F, et al. Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. Behav Brain Res. 2018;338:76-87 pubmed publisher
    ..syndrome, Type 1C (USH1C) is an autosomal recessive inherited disorder in which a mutation in the gene encoding harmonin is associated with multi-sensory deficits (i.e., auditory, vestibular, and visual)...
  45. Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, et al. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. Hum Genet. 1998;103:193-8 pubmed
    ..We demonstrate that one family is linked to the USH1C locus, a rare form of USH1 only reported in the French Acadian population...
  46. Wu L, Pan L, Zhang C, Zhang M. Large protein assemblies formed by multivalent interactions between cadherin23 and harmonin suggest a stable anchorage structure at the tip link of stereocilia. J Biol Chem. 2012;287:33460-71 pubmed
    ..upper root of the tip link is mainly formed by the cytoplasmic tail of cadherin23 and its actin-anchoring protein harmonin. However, the detailed organization mode of the two proteins that gives rise to a strong upper root remains ..
  47. Johnston A, Naselli G, Niwa H, Brodnicki T, Harrison L, Gonez L. Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. Genes Cells. 2004;9:967-82 pubmed
    Mutations in the triple PDZ domain-containing protein harmonin have been identified as the cause of Usher deafness syndrome type 1C. Independently, we identified harmonin in a screen for genes expressed in pancreatic beta cells...
  48. McConnell R, Benesh A, Mao S, Tabb D, Tyska M. Proteomic analysis of the enterocyte brush border. Am J Physiol Gastrointest Liver Physiol. 2011;300:G914-26 pubmed publisher
    ..These results provide a foundation for future studies aimed at defining the molecular mechanisms underpinning brush border assembly and function. ..
  49. Li J, He Y, Weck M, Lu Q, Tyska M, Zhang M. Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins. Proc Natl Acad Sci U S A. 2017;114:E3776-E3785 pubmed publisher
    ..k.a., Harmonin), revealing a previously uncharacterized interaction mode both for MyTH4-FERM tandems and for PDZ domains...
  50. Bahloul A, Pepermans E, Raynal B, Wolff N, Cordier F, England P, et al. Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery. FEBS Lett. 2017;591:2299-2310 pubmed publisher
    Mutations in the gene encoding harmonin, a multi-PDZ domain-containing submembrane protein, cause Usher syndrome type 1 (congenital deafness and balance disorder, and early-onset sight loss)...
  51. Jain P, Lalwani A, Li X, Singleton T, Smith T, Chen A, et al. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene. Genomics. 1998;50:290-2 pubmed
    ..1 defining a new locus, DFNB18. A maximum lod score of 4.4 at theta = 0 was obtained for the polymorphic micro-satellite marker D11S1888...
  52. Wang P, Fan X, Wang Y, Fan Y, Liu Y, Zhang S, et al. Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. Oncotarget. 2017;8:63324-63332 pubmed publisher
    ..genes MUC4, MUC6, COL4A4, MYO7A, AKAP12, COL11A1, DSPP, ESPN, GPR98, PCDH15, BSN, CACNA1D, TPRN, and USH1C for microtia (P = 2.51 × 10-4)...
  53. Vijayakumar S, Depreux F, Jodelka F, Lentz J, Rigo F, Jones T, et al. Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide. Hum Mol Genet. 2017;26:3482-3494 pubmed publisher
    Usher syndrome type 1C (USH1C/harmonin) is associated with profound retinal, auditory and vestibular dysfunction...
  54. Crawley S, Weck M, Grega Larson N, Shifrin D, Tyska M. ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. Dev Cell. 2016;36:190-200 pubmed publisher
    ..ANKS4B interacts with USH1C and MYO7B, which link protocadherins to the actin cytoskeleton...
  55. Boëda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-99 pubmed
    ..Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23...
  56. Yan J, Pan L, Chen X, Wu L, Zhang M. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci U S A. 2010;107:4040-5 pubmed publisher
    ..b>Harmonin/USH1C and Sans/USH1G are two of the USH1 proteins that interact with each other...
  57. Pan B, Askew C, Galvin A, Heman Ackah S, Asai Y, Indzhykulian A, et al. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol. 2017;35:264-272 pubmed publisher
    ..disorder that causes blindness, balance disorders and profound deafness, and studied a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C)...
  58. Eandi C, Dallorto L, Spinetta R, Micieli M, Vanzetti M, Mariottini A, et al. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. Sci Rep. 2017;7:15681 pubmed publisher
    ..diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS...
  59. Yoshimura H, Iwasaki S, Nishio S, Kumakawa K, Tono T, Kobayashi Y, et al. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS ONE. 2014;9:e90688 pubmed publisher
    ..In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance. ..
  60. Lampasona V, Passerini L, Barzaghi F, Lombardoni C, Bazzigaluppi E, Brigatti C, et al. Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome. PLoS ONE. 2013;8:e78664 pubmed publisher
    Autoantibodies to enterocyte antigens harmonin (75 kDa USH1C protein) and villin (actin-binding 95 kDa protein) are associated with the Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome...