Mostrando 1 - 20 Resultados de 141 Para Buscar '"Myo7a"', tiempo de consulta: 3.98s Limitar resultados
  1. 1
    “…MYO7A and PDZD7 interact in tissue-culture cells, and co-localize to the ankle-link region of stereocilia in wild-type but not Myo7a mutant mice. …”
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    PDZD7-MYO7A complex identified in enriched stereocilia membranes
  2. 2
    “…Myosin VIIA, coded by Myo7a, has been identified as one of the causal genes of US. …”
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    The genetic dissection of Myo7a gene expression in the retinas of BXD mice
  3. 3
    “…Autosomal dominant hearing loss (ADHL) manifests as an adult-onset disease or a progressive disease. MYO7A variants are associated with DFNA11, a subtype of ADHL. …”
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    Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains
  4. 4
    “…Targeted NGS and Sanger sequencing validation suggested that USH1 patients carried an unreported splice site mutation, c.5168+1G>A, as a compound heterozygous mutation with c.6070C>T (p.R2024X) in the MYO7A gene. A functional study revealed decreased expression of the MYO7A gene in the individuals carrying heterozygous mutations. …”
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    Identification of a novel MYO7A mutation in Usher syndrome type 1
  5. 5
    “…;[Met946Arg], were identified with clinical significance. Because MYO7A, to our knowledge, has rarely been correlated with USH type 2, our findings therefore reveal distinguished clinical phenotypes associated with MYO7A. …”
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    Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2
  6. 6
    “…We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37‐year‐old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene mutation suggesting Usher syndrome, developed a dilated cardiomyopathy with ventricular tachyarrhythmias and recurrent syncope. …”
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    Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome
  7. 7
    “…The variant leads to an impaired (p.Gln181*) MYO7A protein that truncates 2032 amino acids from the protein. …”
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    A natural knockout of the MYO7A gene leads to pre‐weaning mortality in pigs
  8. 8
    “…PURPOSE: To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). …”
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    MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
  9. 9
    “…Similarly, the mammalian CK counterpart, MYO7A, binds to and impinges on CASPASE-8, revealing a new regulatory axis affecting receptor interacting protein kinase-1 (RIPK1)>CASPASE-8 signalling. …”
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    The unconventional myosin CRINKLED and its mammalian orthologue MYO7A regulate caspases in their signalling roles
  10. 10
    “…With direct DNA sequencing of MYO7A, two novel compound heterozygous mutations (c.3742G>A and c.6051+1G>A) of MYO7A were identified in the proband. …”
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    Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1
  11. 11
    “…Here, we have investigated the use of adeno-associated viruses (AAV) for the delivery of the Usher 1B gene, MYO7A, to retinal cells in cell culture and in Myo7a-null mice. …”
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    Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus
  12. 12
    “…The most severe form is Usher syndrome type 1 (USH1). Mutations in the MYO7A gene are responsible for USH1 and account for 29–55% of USH1 cases. …”
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    Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
  13. 13
    “…This study aimed to determine the role of DFNB2 locus and frequency of MYO7A gene mutations in a population from west of Iran. …”
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    Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran
  14. 14
    “…CONCLUSION: It is concluded that in addition to novel mutations in MYO7A, TH and EVC2, the CDH23 and GJB2 can also be responsible for deafness in the family with consanguineous marriages.…”
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    Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness
  15. 15
    “…In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.…”
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    Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
  16. 16
    “…For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. …”
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    Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
  17. 17
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    Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
  18. 18
    “…The MYO7A gene encodes a protein belonging to the unconventional myosin super family. …”
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    Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
  19. 19
    “…Usher’s syndrome is the most common combined blindness–deafness disorder with USH1B, caused by mutations in MYO7A, resulting in the most severe phenotype. The existence of numerous, naturally occurring shaker1 mice harboring variable MYO7A mutations on different genetic backgrounds has complicated the characterization of MYO7A knockout (KO) and heterozygote mice. …”
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    A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies
  20. 20
    “…PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. …”
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    Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials
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