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Mostrando 161 - 180 Resultados de 1,763 Para Buscar '"Usher"', tiempo de consulta: 0.16s Limitar resultados
  1. 161
    “…We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. …”
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    Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome
  2. 162
    “…P pili are assembled through the conserved chaperone-usher pathway. Much of the structural and functional understanding of the chaperone-usher pathway has been gained through investigations of type 1 pili, which promote binding to the bladder and cystitis. …”
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    Processive dynamics of the usher assembly platform during uropathogenic Escherichia coli P pilus biogenesis
  3. 163
    “…BACKGROUND: Usher syndrome (USH) is a leading disorder of deaf–blindness. …”
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    Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
  4. 164
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    Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
  5. 165
    “…Usher syndrome-associated retinitis pigmentosa (RP) causes progressive retinal degeneration, which has no cure. …”
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    Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
  6. 166
    “…PURPOSE: To identify challenges and opportunities for the development of treatments for Usher syndrome (USH) type 1B. METHODS: In September 2021, the Foundation Fighting Blindness hosted a virtual workshop of clinicians, academic and industry researchers, advocates, and affected individuals and their families to discuss the challenges and opportunities for USH1B treatment development. …”
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    Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report
  7. 167
    por Usher, Abbott Payson, 1883-1965
    Publicado 1988
    Libro
    A history of mechanical inventions
  8. 168
    Publicado 1986
    Libro
    Wildlife conservation evaluation
  9. 169
    “…BACKGROUND: Usher syndrome is the most common cause of deaf-blindness, affecting up to 1 in 6000 people. …”
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    Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians
  10. 170
    “…Since the LEW/Ztm-ci2 rat features the entire range of symptoms of the human Usher syndrome we think that this strain is an appropriate model for this disease. …”
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    A Mutation in Myo15 Leads to Usher-Like Symptoms in LEW/Ztm-ci2 Rats
  11. 171
    “…During pilus assembly, subunits dock as chaperone-bound complexes to an usher, which catalyzes their polymerization and mediates pilus translocation across the outer membrane. …”
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    Crystal structure of the FimD usher bound to its cognate FimC:FimH substrate
  12. 172
    “…Here, the ability of the soluble N-terminal (UsherN), C-terminal (UsherC2), and Plug (UsherP) domains of the usher to bind different chaperone-subunit (PapDPapX) complexes is investigated using noncovalent electrospray ionization mass spectrometry. …”
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    The Role of Chaperone-subunit Usher Domain Interactions in the Mechanism of Bacterial Pilus Biogenesis Revealed by ESI-MS
  13. 173
    “…Several of the top candidate genes include EEF1A1, ROBO1, PLXNA4, SLIT3, NRP1, and NOTCH2, as well as genes associated with the Usher syndrome, PCDH15 and USH2A, and are plausible candidates contributing to the developmental defects in Gbx2(−/−) mice. …”
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    Elongation Factor 1 alpha1 and Genes Associated with Usher Syndromes Are Downstream Targets of GBX2
  14. 174
    “…PURPOSE: To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene. …”
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    Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3
  15. 175
    “…BACKGROUND: Usher syndrome type 2 (USH2) is an autosomal recessive disease characterized by moderate to severe hearing loss and retinitis pigmentosa. …”
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    The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
  16. 176
    “…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). METHODS: Thirty-six Italian patients with a diagnosis of USH were recruited. …”
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    MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
  17. 177
    “…The major class of these organelles is assembled via the classical, alternative and archaic chaperone-usher pathways. Although non-classical systems share a wider phylogenetic distribution and are associated with a range of diseases, little is known about their assembly mechanisms. …”
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    Structural Insight into Archaic and Alternative Chaperone-Usher Pathways Reveals a Novel Mechanism of Pilus Biogenesis
  18. 178
    “…PURPOSE: Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. …”
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    Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
  19. 179
    “…Usher syndrome (USH), the most prevalent cause of hereditary deafness–blindness, is an autosomal recessive and genetically heterogeneous disorder. …”
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    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
  20. 180
    “…PLAIN ENGLISH SUMMARY: Usher syndrome is the most common cause of deafblindness worldwide and is estimated to affect between 3 and 6 people in every 100,000. …”
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    Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome
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