https://transhumanist.ru/index.php?action=history&feed=atom&title=USH1CUSH1C - История изменений2026-11-09T14:37:04ZИстория изменений этой страницы в викиMediaWiki 1.43.6https://transhumanist.ru/index.php?title=USH1C&diff=5675&oldid=prevOdysseusBot: Новая страница: «Harmonin (Antigen NY-CO-38/NY-CO-37) (Autoimmune enteropathy-related antigen AIE-75) (Protein PDZ-73) (Renal carcinoma antigen NY-REN-3) (Usher syndrome type-1C p...»2021-05-12T13:54:48Z<p>Новая страница: «Harmonin (Antigen NY-CO-38/NY-CO-37) (Autoimmune enteropathy-related antigen AIE-75) (Protein PDZ-73) (Renal carcinoma antigen NY-REN-3) (Usher syndrome type-1C p...»</p>
<p><b>Новая страница</b></p><div>Harmonin (Antigen NY-CO-38/NY-CO-37) (Autoimmune enteropathy-related antigen AIE-75) (Protein PDZ-73) (Renal carcinoma antigen NY-REN-3) (Usher syndrome type-1C protein) [AIE75]<br />
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==Publications==<br />
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{{medline-entry<br />
|title=Deafness and retinal degeneration in a novel [[USH1C]] knock-in mouse model.<br />
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/20095043<br />
|abstract=Usher syndrome is the leading cause of combined deaf-blindness, but the molecular mechanisms underlying the auditory and visual impairment are poorly understood. Usher I is characterized by profound congenital hearing loss, vestibular dysfunction, and progressive retinitis pigmentosa beginning in early adolescence. Using the c.216G>A cryptic splice site mutation in Exon 3 of the [[USH1C]] gene found in Acadian Usher I patients in Louisiana, we constructed the first mouse model that develops both deafness and retinal degeneration. The same truncated mRNA transcript found in Usher 1C patients is found in the cochleae and retinas of these knock-in mice. Absent auditory-evoked brainstem responses indicated that the mutant mice are deaf at 1 month of age. Cochlear histology showed disorganized hair cell rows, abnormal bundles, and loss of both inner and outer hair cells in the middle turns and at the base. Retinal dysfunction as evident by an abnormal electroretinogram was seen as early as 1 month of age, with progressive loss of rod photoreceptors between 6 and 12 months of age. This knock-in mouse reproduces the dual sensory loss of human Usher I, providing a novel resource to study the disease mechanism and the development of therapies.<br />
|mesh-terms=* Adaptor Proteins, Signal Transducing<br />
* Aging<br />
* Animals<br />
* Cell Cycle Proteins<br />
* Cochlea<br />
* Cytoskeletal Proteins<br />
* Deafness<br />
* Disease Models, Animal<br />
* Electroretinography<br />
* Evoked Potentials, Auditory, Brain Stem<br />
* Exons<br />
* Gene Knock-In Techniques<br />
* Hair Cells, Auditory<br />
* Louisiana<br />
* Mice<br />
* Mice, Transgenic<br />
* Mutation, Missense<br />
* RNA Splice Sites<br />
* RNA, Messenger<br />
* Retina<br />
* Retinal Degeneration<br />
* Retinal Rod Photoreceptor Cells<br />
* Usher Syndromes<br />
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|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925250<br />
}}</div>OdysseusBot