Mostrando 41 - 60 Resultados de 141 Para Buscar '"Myo7a"', tiempo de consulta: 4.47s Limitar resultados
  1. 41
    “…Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations. …”
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    Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
  2. 42
    “…The pathomechanism of Usher type 1B (USH1B)-RP caused by MYO7A mutation remains elusive because of the lack of faithful animal models and limited knowledge of MYO7A function. …”
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    Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
  3. 43
    “…Mutations in MYO7A cause autosomal recessive Usher syndrome type IB (USH1B), one of the most frequent conditions that combine severe congenital hearing impairment and retinitis pigmentosa. …”
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    Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy
  4. 44
    “…Here we performed an analysis of the MF myosins, Myo7A, Myo7B, and Myo10, to gain insight into how they select for their preferred actin networks. …”
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    Comparative analysis of the MyTH4-FERM myosins reveals insights into the determinants of actin track selection in polarized epithelia
  5. 45
    “…Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP. …”
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    Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History
  6. 46
    por Moreland, Zane G., Bird, Jonathan E.
    Publicado 2022
    “…In this review, we summarize existing evidence for how MYO7A and MYO15A operate and how their dysfunction leads to stereocilia pathology. …”
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    Myosin motors in sensory hair bundle assembly
  7. 47
    “…The most common causative genes were SLC26A4 (12.9%, 9/70), MT‐RNR1 (11.4%, 8/70), and MYO7A (2.9%, 2/70) in deaf patients. In “Unsolved” patients, possible pathogenic variants were most found in SLC26A4 (8.9%, 3/34), MYO7A (5.9%, 2/34), OTOF (5.9%, 2/34), and PDZD7 (5.9%, 2/34) genes. …”
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    Targeted next‐generation sequencing of deaf patients from Southwestern China
  8. 48
    “…We identified three pathogenic variants in three different genes: MYH9, MYO7A and ACTG1. The thrombocytopenia in the child and her mother is explained by the MYH9 variant. …”
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    When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report
  9. 49
    “…CONCLUSIONS: The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.…”
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    Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I
  10. 50
    “…The MYO7A encodes a protein classified as an unconventional myosin. …”
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    Identification and Functional Study of a New Missense Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11)
  11. 51
    “…Six novel types of mutation were identified including 6892C>T, 9514C>T/7894G>T, and 9514C>T in MYO15A gene, 1258A>T in MYO7A, 773G>A in TMC1, and 4658delT in PCDH15. The ratio of nonsense mutation and frameshift mutation was comparatively high. …”
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    Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
  12. 52
    “…GJB2 and MYO7A were the most frequently involved genes in this cohort. …”
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    Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
  13. 53
    “…Based on clinical findings, it was also highly likely that one patient with MYO7A mutations possessed USH1 due to a late onset age of walking. …”
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    Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing
  14. 54
    “…The MYO7A mutation c.93C>A, p.(Cys31*) accounted for 33% of all USH1 mutations and the USH2A c.2299delG, p.…”
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    Usher syndrome in Denmark: mutation spectrum and some clinical observations
  15. 55
    “…Our data suggest an important role for MYO3A, MYO3B, and MYO7A in the MET apparatus formation and highlight the intricate nature of MET and actin regulation during development and functional maturation of the stereocilia bundle.…”
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    Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system
  16. 56
    “…The remaining cells express hair cell marker Myo7a and attract nerve fibers, but do not differentiate normal stereocilia bundles. …”
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    A Novel Atoh1 “Self-Terminating” Mouse Model Reveals the Necessity of Proper Atoh1 Level and Duration for Hair Cell Differentiation and Viability
  17. 57
    “…Seven patients had the MYO7A mutation (41.2%), which is the most common type in Japanese. …”
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    Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
  18. 58
    “…RESULTS: In the search for association between the bone related genes and C1M we have found variants in more than one C1M patient in WNT16, CRTAP, MYO7A and NOTCH2. These genes have been either associated with craniofacial development in different ways, or previously associated with C1M (MYO7A). …”
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    On the association between Chiari malformation type 1, bone mineral density and bone related genes
  19. 59
    “…A genetic diagnosis was reached in 82.1%, the majority (80.7%) being MYO7A or USH2A genotypes. Mean visual acuity and visual field (VF) were 0.47 ± 0.58 LogMAR and 31.3° ± 32.8°, respectively, at a mean age of 43 years. …”
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    Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
  20. 60
    “…MYO7A was the most commonly identified gene. Specific gene combinations were also identified. …”
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    Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance
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