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Functional Genetics of Epidermal Mosaic Disease
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| 자료유형 | 학위논문 |
|---|---|
| 서명/저자사항 | Functional Genetics of Epidermal Mosaic Disease. |
| 개인저자 | Levinsohn, Jonathan. |
| 단체저자명 | Yale University. Genetics. |
| 발행사항 | [S.l.]: Yale University., 2019. |
| 발행사항 | Ann Arbor: ProQuest Dissertations & Theses, 2019. |
| 형태사항 | 246 p. |
| 기본자료 저록 | Dissertations Abstracts International 81-03B. Dissertation Abstract International |
| ISBN | 9781088320389 |
| 학위논문주기 | Thesis (Ph.D.)--Yale University, 2019. |
| 일반주기 |
Source: Dissertations Abstracts International, Volume: 81-03, Section: B.
Advisor: Choate, Keith A. |
| 이용제한사항 | This item must not be sold to any third party vendors. |
| 요약 | Genetic mosaicism is the concept that organisms may contain groups of cells that do not have identical genomes, despite being derived from a single cell. When a somatic mutation occurs during development, the affected cell and all of its progeny will carry this mutation. When pathogenic mutations occur within individuals during development patients present with some affected tissue, as well as some unaffected tissue. Perhaps this is most dramatically clear in the skin, where the pathology is visually apparent. By employing next-generation sequencing technology, we are able to identify the causative mutations across a variety of disorders. We gained insight into disorders caused by mutations within the RAS-RAF-MEK pathway. While these genes and specific mutations have been well studied in the context of cancer biology, our findings raise new questions the effects of RAS on the interfolicular and follicular keratinocytes. Further, we found mutations in NEK9 cause nevus comedonicus. The role of NEK9 within the epidermis has heretofore been unstudied. These NEK9 mutations influence follicular differentiation, leading affected follicular keratinocytes to adopt a differentiation status more similar to interfolicular keratinocytes. Identification of these pathogenic variants helps with both a clinical understanding of these disorders and as well as expanding our understanding of epidermal biology. |
| 일반주제명 | Biology. |
| 언어 | 영어 |
| 바로가기 | 
: 이 자료의 원문은 한국교육학술정보원에서 제공합니다. |
