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Mostrando 181 - 200 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.18s Limitar resultados
  1. 181
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    Immunotherapy in Advanced Non-small Cell Lung Cancer Patients: Ushering Chemotherapy Through the Checkpoint Inhibitors?
  2. 182
    “…Diseases involving cilia dysfunction, such as Usher Syndrome (USH), often involve visual and auditory loss. …”
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    Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome
  3. 183
    “…Purpose: To explore life strategies in people with Usher syndrome type 2a. Background: There are no studies on life strategies in people with Usher syndrome. …”
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    Life strategies of people with deafblindness due to Usher syndrome type 2a - a qualitative study
  4. 184
    “…Aim: To identify disease-causing mutations in four Lebanese families: three families with Bardet–Biedl and one family with Usher syndrome (BBS and USH respectively), using next generation sequencing (NGS). …”
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    Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes
  5. 185
    “…Purpose: This study aimed to explore lived experiences with working life from the perspective of people with deafblindness due to Usher syndrome type 2 (USH2). Background: A limited number of studies have explored working life of people with Usher syndrome. …”
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    The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2
  6. 186
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    Biosafety materials: Ushering in a new era of infectious disease diagnosis and treatment with the CRISPR/Cas system
  7. 187
    “…Usher syndrome (USH) is the most common form of monogenic deaf‐blindness. …”
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    Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes
  8. 188
    “…Usher syndrome (USH) is a condition characterized by ciliary dysfunction leading to retinal degeneration and hearing/vestibular loss. …”
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    Decreased activity of piriform cortex and orbitofrontal hyperactivation in Usher Syndrome, a human disorder of ciliary dysfunction
  9. 189
    “…On average, isolates encoded 12 different CU fimbrial ushers (6 to 18 per genome), although the distribution varied significantly (P = 1.328E−08) by phylogenetic clade, with isolates in section Typhi having significantly fewer fimbrial ushers than isolates in clade A2 (medians = 10 and 12 ushers, respectively). …”
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    The Number and Type of Chaperone-Usher Fimbriae Reflect Phylogenetic Clade Rather than Host Range in Salmonella
  10. 190
    por Poe, Edgar Allan, 1809-1849
    Publicado 2013
    Libro
    El corazón delator. El cuervo. El gato negro. La caída de la casa Usher
  11. 191
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    Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli
  12. 192
    “…This species difference suggests that the mouse may not be a suitable model for studying the retinitis pigmentosa phenotype of human Usher syndrome type 1D.…”
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    Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D
  13. 193
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    Gene-based treatment options for Usher type 1C by translational read-through of a nonsense mutation
  14. 194
    “…PURPOSE: To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). METHODS: An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. …”
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    Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1
  15. 195
    “…They impair by means of a chaperone-usher pathway conserved in the Gram-negative bacteria of adhesive structures biogenesis. …”
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    Pilicides inhibit the FGL chaperone/usher assisted biogenesis of the Dr fimbrial polyadhesin from uropathogenic Escherichia coli
  16. 196
    “…Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP), and occasionally vestibular dysfunction. …”
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    Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
  17. 197
    “…BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous condition with ten disease-causing genes. …”
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    Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing
  18. 198
    “…Usher syndrome (USH) is an autosomal recessive (AR) multi-sensory degenerative disorder leading to deaf-blindness. …”
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    Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family
  19. 199
    “…BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. …”
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    Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
  20. 200
    “…We reasoned that gene delivery systems that target auditory and vestibular sensory cells with high efficiency would be required to restore complex auditory and balance function. We focused on Usher Syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and used a knock-in mouse model, Ush1c c.216G>A, which carries a cryptic splice site mutation found in French-Acadian patients with Usher Syndrome type IC (USH1C). …”
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    Gene Therapy Restores Auditory and Vestibular Function in a Mouse Model of Usher Syndrome Type 1c
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