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Page 1
NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.
Mintoff D, Pace NP, Borg I. Mintoff D, et al. JAMA Dermatol. 2023 Sep 1;159(9):939-944. doi: 10.1001/jamadermatol.2023.2227. JAMA Dermatol. 2023. PMID: 37494055 Free PMC article.
OBJECTIVE: To establish the prevalence of the NCSTN:c.671_682del variant and explore potential genotype-phenotype associations in an ethnically Maltese HS cohort. ...EXPOSURE: Recruited patients were phenotyped and genotyped for the NCSTN:c.671_682del variant. MAIN …
OBJECTIVE: To establish the prevalence of the NCSTN:c.671_682del variant and explore potential genotype-phenotype associations in an …
Effects of NCSTN Mutation on Hair Follicle Components in Mice.
Shi TW, Cao W, Zhao QZ, Yu HX, Zhang SS, Hao YB. Shi TW, et al. Dermatology. 2023;239(1):60-71. doi: 10.1159/000525526. Epub 2022 Jul 15. Dermatology. 2023. PMID: 35843211
Thus, we examined changes in these components in mice with a mutation in NCSTN (a gamma-secretase gene). METHODS: We generated C57BL/6 mice with an NCSTN mutation and examined their expression of hair cortex cytokeratin and trichohyalin by Western blot and immunohis …
Thus, we examined changes in these components in mice with a mutation in NCSTN (a gamma-secretase gene). METHODS: We generated C57BL/ …
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
de Oliveira ASLE, de Siqueira RC, Nait-Meddour C, Tricarico PM, Moura R, Agrelli A, d'Adamo AP, Jamain S, Crovella S, de Fátima Medeiros Brito M, Boniotto M, Brandão LAC. de Oliveira ASLE, et al. Exp Dermatol. 2023 Nov;32(11):1935-1945. doi: 10.1111/exd.14919. Epub 2023 Sep 4. Exp Dermatol. 2023. PMID: 37665193
We showed that this variant leads to a premature stop codon, activates a nonsense-mediated mRNA decay, and causes NCSTN haploinsufficiency in affected individuals. In fact, cells treated with gentamicin, a readthrough agent, had the NCSTN levels corrected. Moreover, …
We showed that this variant leads to a premature stop codon, activates a nonsense-mediated mRNA decay, and causes NCSTN haploinsuffic …
NCSTN promotes hepatocellular carcinoma cell growth and metastasis via beta-catenin activation in a Notch1/AKT dependent manner.
Li H, Lan T, Xu L, Liu H, Wang J, Li J, Chen X, Huang J, Li X, Yuan K, Zeng Y, Wu H. Li H, et al. J Exp Clin Cancer Res. 2020 Jul 6;39(1):128. doi: 10.1186/s13046-020-01638-3. J Exp Clin Cancer Res. 2020. PMID: 32631394 Free PMC article.
Enhanced NCSTN expression promoted HCC cell growth, migration and invasion in vitro and in vivo. ...Using Notch and AKT inhibitors, we revealed that NCSTN promoted beta-catenin activation through Notch1 and AKT signaling pathway. NCSTN increased AKT and GSK-3 …
Enhanced NCSTN expression promoted HCC cell growth, migration and invasion in vitro and in vivo. ...Using Notch and AKT inhibitors, w …
NCSTN Deficiency and Depigmentation: All About Tyrosinase?
Hermasch MA, Janning H, Schnabel V, Muschalek W, Bennemann A, Schön MP, Betz RC, Dosch R, Frank J. Hermasch MA, et al. J Invest Dermatol. 2021 May;141(5):1331-1334. doi: 10.1016/j.jid.2020.08.026. Epub 2020 Oct 13. J Invest Dermatol. 2021. PMID: 33065108 Free article. No abstract available.
Identification and validation of a signature based on macrophage cell marker genes to predict recurrent miscarriage by integrated analysis of single-cell and bulk RNA-sequencing.
Wei P, Dong M, Bi Y, Chen S, Huang W, Li T, Liu B, Fu X, Yang Y. Wei P, et al. Front Immunol. 2022 Nov 11;13:1053819. doi: 10.3389/fimmu.2022.1053819. eCollection 2022. Front Immunol. 2022. PMID: 36439123 Free PMC article.
We then identified seven core genes (ACTR2, CD2AP, MBNL2, NCSTN, PUM1, RPN2, and TBC1D12) from the above differentially expressed gene group that are closely related to RM using the LASSO, Random Forest and SVM-RFE algorithms. ...A nomogram was constructed of the expressio …
We then identified seven core genes (ACTR2, CD2AP, MBNL2, NCSTN, PUM1, RPN2, and TBC1D12) from the above differentially expressed gen …
Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer's, and liver cancer.
Yan L, Song YS, Zhou J, Zhu L, Shi TW, Yu HQ, Dong ZQ, Wang W, Long T, Liu HY, Shi ZY, Li JG. Yan L, et al. Eur J Med Res. 2024 Dec 24;29(1):622. doi: 10.1186/s40001-024-02225-4. Eur J Med Res. 2024. PMID: 39719647 Free PMC article.
BACKGROUND: Nicastrin, a subunit of the gamma-secretase complex, is encoded by the NCSTN gene and regulates notch signaling, it is involved in the pathogenesis of hidradenitis suppurativa (HS), Alzheimer disease (AD), and liver cancer. ...HS-like lesions appeared on the sk …
BACKGROUND: Nicastrin, a subunit of the gamma-secretase complex, is encoded by the NCSTN gene and regulates notch signaling, it is in …
A Novel NCSTN Mutation in a Three-Generation Chinese Family with Hidradenitis Suppurative.
Liu C, Liu X, Wang R, Chen L, Zhao H, Zhou Y. Liu C, et al. J Healthc Eng. 2022 Mar 24;2022:1540774. doi: 10.1155/2022/1540774. eCollection 2022. J Healthc Eng. 2022. Retraction in: J Healthc Eng. 2023 Aug 23;2023:9801943. doi: 10.1155/2023/9801943. PMID: 35368949 Free PMC article. Retracted.
DNA was isolated from the peripheral blood of the family members. The encoding exons with introns of the NCSTN gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. ...RESULTS: In this family comprising 10 HS patients, one novel mutation of the …
DNA was isolated from the peripheral blood of the family members. The encoding exons with introns of the NCSTN gene were analyzed by …
The combination between NCSTN gene copy number variation and growth traits in Chinese cattle.
Yao YF, Lyu S, Wang X, Zhang Z, Qu K, Xu J, Cai C, Li Z, Xie J, Ru B, Xu Z, Wang E, Lei C, Chen H, Huang B, Huang Y. Yao YF, et al. Anim Biotechnol. 2021 Dec;32(6):683-687. doi: 10.1080/10495398.2020.1741382. Epub 2020 Mar 25. Anim Biotechnol. 2021. PMID: 32208881 Free article.
However, there are no essays about the NCSTN gene combining with cattle breeds. In our study, we discovered different distributions of NCSTN gene copy number and associated it with phenotypic traits in four Chinese yellow cattle breeds (XN, PN, QC and YL). ...In gen …
However, there are no essays about the NCSTN gene combining with cattle breeds. In our study, we discovered different distributions o …
Increased expression profile of NCSTN, Notch and PI3K/AKT3 in hidradenitis suppurativa.
Hessam S, Gambichler T, Skrygan M, Scholl L, Sand M, Meyer T, Stockfleth E, Bechara FG. Hessam S, et al. J Eur Acad Dermatol Venereol. 2021 Jan;35(1):203-210. doi: 10.1111/jdv.16962. Epub 2020 Nov 5. J Eur Acad Dermatol Venereol. 2021. PMID: 32978818
BACKGROUND: In a small number of kindreds with familial hidradenitis suppurativa (HS) different mutations of NCSTN (nicastrin) have been identified. Blocking of NCSTN leads to impairment of the Notch and PI3K/AKT signalling pathway, which is assumed to play a pathog …
BACKGROUND: In a small number of kindreds with familial hidradenitis suppurativa (HS) different mutations of NCSTN (nicastrin) have b …
152 results