Mostrando 101 - 120 Resultados de 141 Para Buscar '"Myo7a"', tiempo de consulta: 4.39s Limitar resultados
  1. 101
    “…Results: Based on our findings, we detected the fetal status with the family corresponding different genes, i.e., LZTR1, DVL2, HBB, RNASEH2B, and MYO7A, as homozygous affected, wild-type, and heterozygous carriers, respectively. …”
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    Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
  2. 102
    “…Familial MD is found in 10% of cases, the most frequently found genes being OTOG, MYO7A, and TECTA, previously associated with autosomal dominant and recessive non-syndromic SNHL. …”
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    Types of Inheritance and Genes Associated with Familial Meniere Disease
  3. 103
    “…Although the most frequently mutated genes in this cohort were consistent with those described in the literature (GJB2, OTOF or MYO7A), causative variants in less frequent genes such as TMC1, FGF3 or mitCOX1 were also identified. …”
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    Next-generation sequencing improves precision medicine in hearing loss
  4. 104
    “…Q-PCR analyses showed J cybrids had decreased expressions for CFH, C3, and EFEMP1 genes, high risk genes for AMD, and higher expression for MYO7A, a gene associated with retinal degeneration in Usher type IB syndrome. …”
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    Mitochondrial DNA Variants Mediate Energy Production and Expression Levels for CFH, C3 and EFEMP1 Genes: Implications for Age-Related Macular Degeneration
  5. 105
    “…Moreover, we detect severe abnormalities of the cochlear sensory hair cells, the stria vascularis looks severely disorganised, Reissner's membrane is collapsed and no endocochlear potential is detected. Myo7a and Kcnj10 expression analysis show a lack of the melanocyte-like intermediate cells in hb/hb stria vascularis, which can explain the absence of endocochlear potential. …”
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    Headbobber: A Combined Morphogenetic and Cochleosaccular Mouse Model to Study 10qter Deletions in Human Deafness
  6. 106
    “…These included GJB2 p.R75Q, MYO7A p.T381M, KCNQ4 p.S680F, and MYH9 p.E1256K. …”
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    Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment
  7. 107
    “…RESULTS: CML were observed in 37 % of USH eyes, while 45 % were observed in MYO7A and 29 % in USH2A cases. Of those with CML: 52 % had mild, 22 % had moderate and 26 % had severe changes, respectively. …”
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    Novel grading system for quantification of cystic macular lesions in Usher syndrome
  8. 108
    “…The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%) and CDH23 (4%). …”
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    Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort
  9. 109
    “…The next most common cause was pathogenic variants in MYO7A and SLC26A4, each responsible for three “positive” cases. …”
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    Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients
  10. 110
    por Zhou, Yu, You, Ming
    Publicado 2019
    “…After GWA filtration, two mRNAs (Myo7a and Zfp874a) and two lncRNAs (n290048 and n271850) were highlighted as the candidates responsible for genetic susceptibility to lung cancer. …”
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    Integrative system genetic analysis reveals mRNA-lncRNA network associated with mouse spontaneous lung cancer susceptibility
  11. 111
    “…The changes in spatiotemporal patterns of MSI1 expression during spontaneous HC regeneration following GM treatment showed that MSI1-immunoreactivity was diffusely spread into the cytoplasm of the SCs during 7–21 days PT whereas the expression of MSI1 was confined to the nucleus of SCs in the other period. The MSI1/MYO7A double-positive cells were observed at 21 days PT. …”
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    Alteration of Musashi1 Intra-cellular Distribution During Regeneration Following Gentamicin-Induced Hair Cell Loss in the Guinea Pig Crista Ampullaris
  12. 112
    “…After transfection of the selected small activating RNAs, the expression of the characteristic markers of inner ear hair cells, POU class 4 homeobox 3 (POU4F3) and myosin VIIA (MYO7A), was detected. Human adipose-derived mesenchymal stem cells have the potential to differentiate into human hair cell progenitor cells. …”
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    Small activating RNA activation of ATOH1 promotes regeneration of human inner ear hair cells
  13. 113
    “…RESULTS: Eight lysosomal-related genes were selected for predictive model construction based on the inclusion of RMSE as a reference standard and RF algorithm for ranking, namely ADRB2, KCNE2, MYO7A, IFI30, LAMP3, TPP1, HPS4, and NEU4. Taking into account accuracy, precision, recall, and F1 measurements, a preliminary determination of our study was carried out by means of applying the extra tree and random forest algorithms, incorporating the ROC-AUC value as a consideration, the Extra Tree model seems to be the optimal option with the AUC value of 0.92. …”
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    Establishment of a novel lysosomal signature for the diagnosis of gastric cancer with in-vitro and in-situ validation
  14. 114
    “…To observe the effect of mutations in the patient’s tissues, RNA was extracted from nasal epithelial cells and RT-PCR analyses were performed. Four MYO7A (c.470G>A, c.1342_1343delAG, c.5856G>A and c.3652G>A), three CDH23 (c.2289+1G>A, c.6049G>A and c.8722+1delG) and one PCDH15 (c.3717+2dupTT) variants were observed to affect the splicing process by minigene assays and/or transcripts analysis obtained from nasal cells. …”
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    Study of USH1 Splicing Variants through Minigenes and Transcript Analysis from Nasal Epithelial Cells
  15. 115
    “…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. …”
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    Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models
  16. 116
    “…These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients. …”
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    Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
  17. 117
    “…METHODS: A custom HaloPlex panel 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) and the two candidate genes VEZT and MYO15A. …”
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    Targeted next generation sequencing for molecular diagnosis of Usher syndrome
  18. 118
    “…Pathogenic genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort. …”
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    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
  19. 119
    “…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, PDZD7, CEP250 and C2orf71). …”
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    High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
  20. 120
    “…The mutational spectrum for severe-to-profound non-syndromic hearing loss in our Vietnamese population was unique: The most prevalent variants resided in the MYO15A gene (7.2%), followed by GJB2 (6.9%), MYO7A (5.5%), SLC26A4 (4.6%), TMC1 (1.8%), ESPN (1.8%), POU3F4 (1.8%), MYH14 (1.8%), EYA1 (1.8%), and MR-RNR1 (1.1%). …”
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    Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
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