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- W3012192845 endingPage "e537" @default.
- W3012192845 startingPage "e529" @default.
- W3012192845 abstract "In this review, we discuss current knowledge about the genetics and epigenetics of vestibular schwannoma (VS) in relation to hearing loss. A multistep and sequential genetic algorithm suitable for the identification of Neurofibromatosis Type 2 (NF2) constitutional and somatic mutations is discussed.A review was performed of the English literature from 1990 to 2019 using PubMed regarding genetics and epigenetics of vestibular schwannoma and NF2.NF2 is a genetic disorder characterized by NF2 mutations that affect the function of a tumor suppressor called merlin. In particular, individuals with NF2 develop bilateral VS that can lead to hearing loss and even deafness. Recent advances in genetic and epigenetic studies have improved our understanding of the genotype-phenotype relationships that affect hearing in NF2 patients. Specific constitutional NF2 mutations including particular truncating, deletion, and missense mutations have been associated with poorer hearing outcomes and more severe clinical manifestations. Epigenetic events, such as DNA methylation and histone modifications, also contribute to the development and progression of hearing loss in NF2 patients. Furthermore, the accumulation of multiple NF2 and non-NF2 genetic and epigenetic abnormalities at the level of the tumor may contribute to worse hearing outcomes. Understanding genetic and epigenetic signatures in individual NF2 patients and particularly in each VS will allow us to develop novel gene therapies and precision medicine algorithms to preserve hearing in NF2 individuals." @default.
- W3012192845 created "2020-03-23" @default.
- W3012192845 creator A5003701651 @default.
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- W3012192845 date "2020-03-05" @default.
- W3012192845 modified "2023-10-16" @default.
- W3012192845 title "Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2" @default.
- W3012192845 cites W1559759188 @default.
- W3012192845 cites W1819389719 @default.
- W3012192845 cites W1835750525 @default.
- W3012192845 cites W1870082719 @default.
- W3012192845 cites W1892732884 @default.
- W3012192845 cites W1965375903 @default.
- W3012192845 cites W1972639642 @default.
- W3012192845 cites W1974290681 @default.
- W3012192845 cites W1979415582 @default.
- W3012192845 cites W1979769894 @default.
- W3012192845 cites W1980647220 @default.
- W3012192845 cites W1985094328 @default.
- W3012192845 cites W1985531875 @default.
- W3012192845 cites W1985717348 @default.
- W3012192845 cites W1987267980 @default.
- W3012192845 cites W1987311809 @default.
- W3012192845 cites W1987996481 @default.
- W3012192845 cites W1992007647 @default.
- W3012192845 cites W1994704588 @default.
- W3012192845 cites W1997222931 @default.
- W3012192845 cites W1997575274 @default.
- W3012192845 cites W1998131422 @default.
- W3012192845 cites W1999340868 @default.
- W3012192845 cites W2000980908 @default.
- W3012192845 cites W2010793999 @default.
- W3012192845 cites W2022510743 @default.
- W3012192845 cites W2023881581 @default.
- W3012192845 cites W2024075568 @default.
- W3012192845 cites W2027681190 @default.
- W3012192845 cites W2029976610 @default.
- W3012192845 cites W2031670916 @default.
- W3012192845 cites W2035122273 @default.
- W3012192845 cites W2035781246 @default.
- W3012192845 cites W2050088647 @default.
- W3012192845 cites W2059099579 @default.
- W3012192845 cites W2074273427 @default.
- W3012192845 cites W2080118499 @default.
- W3012192845 cites W2081385385 @default.
- W3012192845 cites W2082336942 @default.
- W3012192845 cites W2086610618 @default.
- W3012192845 cites W2098126853 @default.
- W3012192845 cites W2101868032 @default.
- W3012192845 cites W2105043481 @default.
- W3012192845 cites W2108366444 @default.
- W3012192845 cites W2108745864 @default.
- W3012192845 cites W2121978023 @default.
- W3012192845 cites W2122623783 @default.
- W3012192845 cites W2128140173 @default.
- W3012192845 cites W2139910143 @default.
- W3012192845 cites W2144581594 @default.
- W3012192845 cites W2150205920 @default.
- W3012192845 cites W2150706412 @default.
- W3012192845 cites W2152258115 @default.
- W3012192845 cites W2157639946 @default.
- W3012192845 cites W2158742110 @default.
- W3012192845 cites W2161807488 @default.
- W3012192845 cites W2161967992 @default.
- W3012192845 cites W2167772310 @default.
- W3012192845 cites W2172047947 @default.
- W3012192845 cites W2273762313 @default.
- W3012192845 cites W2286377525 @default.
- W3012192845 cites W2295527059 @default.
- W3012192845 cites W2318878151 @default.
- W3012192845 cites W2406017011 @default.
- W3012192845 cites W2531660572 @default.
- W3012192845 cites W2550240585 @default.
- W3012192845 cites W2587075000 @default.
- W3012192845 cites W2593053540 @default.
- W3012192845 cites W2598133926 @default.
- W3012192845 cites W2605914249 @default.
- W3012192845 cites W2622881712 @default.
- W3012192845 cites W2791977836 @default.
- W3012192845 cites W2792093827 @default.
- W3012192845 cites W2792631118 @default.
- W3012192845 cites W2796043783 @default.
- W3012192845 cites W2894046294 @default.
- W3012192845 cites W2901855390 @default.
- W3012192845 cites W2908359412 @default.
- W3012192845 cites W2957647793 @default.
- W3012192845 cites W2998532160 @default.
- W3012192845 cites W586500233 @default.
- W3012192845 doi "https://doi.org/10.1097/mao.0000000000002613" @default.