排序方式: 共有3条查询结果,搜索用时 421 毫秒
1
1.
2.
Franz P. W. Radner Slaheddine Marrakchi Peter Kirchmeier Gwang-Jin Kim Florence Ribierre Bourane Kamoun Leila Abid Michael Leipoldt Hamida Turki Werner Schempp Roland Heilig Mark Lathrop Judith Fischer 《PLoS genetics》2013,9(6)
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3) and abolishes a sequence for a long non-coding RNA (FLJ42289). Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis. 相似文献
3.
Kim Nam-Chol Ko Myong-Chol Choe Song-Il Jang Chol-Jong Kim Gwang-Jin Hao Zhong-Hua Li Jian-Bo Wang Qu-Quan 《Plasmonics (Norwell, Mass.)》2018,13(3):1089-1095
Plasmonics - Transport properties of a single plasmon interacting with two quantum dots (QDs) system coupled to one-dimensional surface plasmonic waveguide are investigated theoretically via the... 相似文献
1