252 results on '"El Amraoui, Aziz"'
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2. Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
3. Audition: Hearing and Deafness
4. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
5. A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
6. Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art
7. Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family
8. Review of Genotype-Phenotype Correlations in Usher Syndrome
9. Direct delivery of Cas9 or base editor protein and guide RNA complex enables genome editing in the retina
10. Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians
11. Rab27A and Its Effector MyRIP Link Secretory Granules to F-Actin and Control Their Motion Towards Release Sites
12. Audition: Hearing and Deafness
13. Cadherins in the Auditory Sensory Organ
14. KCNQ4, a K + Channel Mutated in a Form of Dominant Deafness, Is Expressed in the Inner Ear and the Central Auditory Pathway
15. Human Myosin VIIA Responsible for the Usher 1B Syndrome: A Predicted Membrane-Associated Motor Protein Expressed in Developing Sensory Epithelia
16. Les auteurs
17. Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function
18. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
19. Audition: Hearing and Deafness
20. Déficience auditive induite par le bruit : comment peut-elle être prévenue et traitée ?
21. Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone–Rod Dystrophy
22. An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells
23. Myosin VII
24. Usher syndrome Recent advances in our understanding of genes and therapeutics
25. Vieillissement de l’oreille interne : bases génétiques et conséquences à l’échelle cellulaire et moléculaire
26. Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions
27. Progress in Gene Editing Tools and Their Potential for Correcting Mutations Underlying Hearing and Vision Loss
28. Chapitre 4 - Vieillissement de l'oreille interne: Bases génétiques et conséquences à l'échelle cellulaire et moléculaire
29. Review of Genotype-Phenotype Correlations in Usher Syndrome
30. Cadherin Defects in Inherited Human Diseases
31. The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route
32. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
33. MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes
34. Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin–catenins complex
35. Disease mechanisms and gene therapy for Usher syndrome
36. Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans
37. Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges
38. Expression of myosin VIIA during mouse embryogenesis
39. Otogelin: a glycoprotein specific to the acellular membranes of the inner ear
40. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
41. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly
42. Interactions in the network of Usher syndrome type 1 proteins
43. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
44. Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments
45. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
46. Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery
47. Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome
48. Thérapie cellulaire dans l’oreille interne
49. Stem cell therapy in the inner ear: recent achievements and prospects
50. Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment
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