Mostrando 21 - 40 Resultados de 141 Para Buscar '"Myo7a"', tiempo de consulta: 3.83s Limitar resultados
  1. 21
    “…Mutations in the MYO7A gene cause a deaf-blindness disorder, known as Usher syndrome 1B.  …”
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    The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65
  2. 22
    “…Here we report two novel mutations in the MYO7A and EYA1 genes in two patients detected by targeted NGS. …”
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    The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families
  3. 23
    “…Usher syndrome type 1B (USH1B) is associated with mutations in MYO7A. Patients with USH1B experience deafness, blindness, and vestibular dysfunction. …”
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    Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B
  4. 24
    “…BACKGROUND: Variants in the MYO7A gene commonly result in Usher syndrome, and in rare cases lead to autosomal dominant non-syndromic deafness (DFNA11). …”
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    Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
  5. 25
    “…PURPOSE: Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf–blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]). …”
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    Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness
  6. 26
    “…RESULTS: The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), which causes type 1 Usher syndrome, and phosphodiesterase 6B, cyclic guanosine monophosphate-specific, rod, beta (PDE6B), which causes nonsyndromic RP. …”
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    Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa
  7. 27
    “…The homozygous splice site mutation c.470+1G>A in intron 5 of the MYO7A gene was detected in all affected siblings. …”
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    Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene
  8. 28
    “…Leu180Serfs∗20) in TECTA, c.3719 G>A (p. Arg1240Gln) in MYO7A, and c.482+1986_1988del in HGF were identified as the pathogenic causes of enrolled families. …”
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    Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families
  9. 29
    “…We report here 231 pathogenic MYO7A and USH2A genotypes identified in 73 Usher type I and 158 Usher type II patients. …”
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    The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
  10. 30
    “…Mutations in the MYO7A gene lead to Usher syndrome type 1B (USH1B), a disease characterized by congenital deafness, vision loss, and balance impairment. …”
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    CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B
  11. 31
    “…BACKGROUND: Variants in the MYO7A gene are increasingly identified among patients suffering from Usher syndrome type 1B (USH1B). …”
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    Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
  12. 32
    “…MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). …”
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    Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
  13. 33
    “…Mutations in myosin-VIIa (MYO7A) cause Usher syndrome type 1, characterized by combined deafness and blindness. …”
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    Myosin-VIIa is expressed in multiple isoforms and essential for tensioning the hair cell mechanotransduction complex
  14. 34
    “…Human MYO7A mutations can cause a variety of conditions involving the inner ear. …”
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    Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness
  15. 35
    “…We evaluated the impact of subretinally delivered UshStat, a recombinant EIAV-based lentiviral vector expressing human MYO7A, on photoreceptor function in the shaker1 mouse model for Usher type 1B that lacks a functional Myo7A gene. …”
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    EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat
  16. 36
    “…To find whether Tmie protein interacts with MYO7A proteins in the cochlea postnatal developmental stage, we investigated expression of the MYO7A proteins in the cochlear hair cells of circling mice by western blot analysis and whole mount immunofluorescence at postnatal day 5 (P5). …”
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    Over-expression of myosin7A in cochlear hair cells of circling mice
  17. 37
    “…To overcome this, we have previously developed dual AAV8 vectors which encode human MYO7A (dual AAV8.MYO7A). Here we show that subretinal administration of 1.37E+9 to 1.37E+10 genome copies of a good-manufacturing-practice-like lot of dual AAV8.MYO7A improves the retinal defects of a mouse model of USH1B. …”
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    Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B
  18. 38
    por Kuppa, Annapurna, Sergeev, Yuri V
    Publicado 2021
    “…Here, we present the model of human MYO7A homodimer, built using homology modeling, and refined using 5 ns molecular dynamics in water. …”
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    Homology modeling and global computational mutagenesis of human myosin VIIa
  19. 39
    “…Finally, we performed DNA sequencing of three known USH1 genes: MYO7A, PCDH15, and USH1C. RESULTS: Four biallelic mutations, all single base changes, were found in the MYO7A, USH1C, and PCDH15 genes. …”
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    Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
  20. 40
    “…Here, we determine high-resolution structures of Myo7a and Myo7b C-terminal MyTH4-FERM domain (MF2) and unveil how they recognize harmonin using a novel binding mode. …”
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    Myosin 7 and its adaptors link cadherins to actin
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