| Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation. | Discovery and Potential Functional Characterization of Long Noncoding RNAs Associated with Familial Acne Inversa with NCSTN Mutation.
He Y, Wang W, Ma X, Duan Z, Wang B, Li M, Xu H. | 02/16/2024 |
| A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa. | 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. | 11/6/2023 |
| A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation. | A novel mutation of the NCSTN gene in a Chinese hidradenitis suppurativa family with familial comedones as the main clinical manifestation.
Zhang Z, Zhang B, Guo Y, Chen J, Zheng S, Gao X, Chen H, Xu X. | 09/3/2022 |
| Evolutionary distinct roles of gamma-secretase subunit nicastrin in zebrafish and humans. | Evolutionary distinct roles of γ-secretase subunit nicastrin in zebrafish and humans.
Hermasch MA, Janning H, Perera RP, Schnabel V, Rostam N, Ramos-Gomes F, Muschalek W, Bennemann A, Alves F, Ralser DJ, Betz RC, Schön MP, Dosch R, Frank J. | 03/19/2022 |
| Two novel nicastrin mutations in Chinese families with acne inversa. | Two novel nicastrin mutations in Chinese families with acne inversa.
Xiao XM, Yang WZ, Lin LH, Li CR. | 07/24/2021 |
| Genetic variations in gamma-secretase and PSTPIP1 in hidradenitis suppurativa in Singaporean Chinese. | Genetic variations in gamma-secretase and PSTPIP1 in hidradenitis suppurativa in Singaporean Chinese.
Shen M, Yeoh XLA, Wang DY, Tey HL, Ren EC, Oon HH. | 07/17/2021 |
| NCSTN promotes hepatocellular carcinoma cell growth and metastasis via beta-catenin activation in a Notch1/AKT dependent manner. | NCSTN promotes hepatocellular carcinoma cell growth and metastasis via β-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., Free PMC Article | 03/6/2021 |
| The impaired EGFR signaling and its effects on epidermal differentiation were also observed in familial AI patients and Ncstn(DeltaKC) mice. Thus, our study showed that miR-30a-3p/RAB31/EGFR signaling pathway may play a key role in the pathogenesis of familial AI with NCSTN mutations. | Nicastrin/miR-30a-3p/RAB31 Axis Regulates Keratinocyte Differentiation by Impairing EGFR Signaling in Familial Acne Inversa.
He Y, Xu H, Li C, Zhang X, Zhou P, Xiao X, Zhang W, Wu Y, Zeng R, Wang B. | 11/2/2019 |
| A heterozygous nonsense mutation (c.617C>A, p.S206X) was identified in NCSTN in the proband. This mutation in NCSTN also existed in the other AI patients but not in the two normal relatives and 50 control subjects. | Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa.
Shi TW, Bai N, Zhang JA, Lu F, Chen XB, Kong XD, Yu JB. | 05/18/2019 |
| Identification of a novel deletion mutation in exon 4 of NCSTN, which may underlie the molecular pathogenesis in this Acne inversa family. | A novel NCSTN gene mutation in a Chinese family with acne inversa.
Wu C, Yang J, Zhang S, Li J, Jin H, Zhang X. | 12/22/2018 |
| A physical interaction between nicastrin (hNCT) and the gamma-secretase substrate amyloid beta-protein precursor (APPC100) confirmed the functionality of hNCT as a substrate recognizer. | High-efficient production and biophysical characterisation of nicastrin and its interaction with APPC100.
Yu K, Yang G, Labahn J., Free PMC Article | 12/1/2018 |
| The results show no differences in the decreased levels of inflammatory factors between patients with and without NCSTN mutations. This result may indicate that NCSTN mutations have no direct effect on inflammatory cells in the process of cytokine production. | NCSTN mutations in hidradenitis suppurativa/acne inversa do not influence cytokine production by peripheral blood mononuclear cells.
Xu H, He Y, Hui Y, Xiao X, Zhang X, Li C, Wang B. | 10/14/2017 |
| The authors identified two nonsynonymous mutations in NCSTN in a white population, one of which had previously been described in African American and Chinese patients with HS. In addition, several intronic polymorphisms within the NCSTN were identified that were present at a significantly higher frequency in the HS population. | Genetic analysis of NCSTN for potential association with hidradenitis suppurativa in familial and nonfamilial patients.
Liu M, Davis JW, Idler KB, Mostafa NM, Okun MM, Waring JF. | 08/5/2017 |
| The results lead the investigators to speculate that NCSTN may be one of the genes determining the clinical phenotype of follicular HS . | Phenotype of 53 Chinese individuals with nicastrin gene mutations in association with familial hidradenitis suppurativa (acne inversa).
Xu H, Xiao X, Hui Y, Zhang X, He Y, Li C, Wang B. | 03/11/2017 |
| Loss of function of nicastrin impacts on cell proliferation and differentiation-associated signalling pathways in a keratinocyte cell line. | Nicastrin mutations in familial acne inversa impact keratinocyte proliferation and differentiation through the Notch and phosphoinositide 3-kinase/AKT signalling pathways.
Xiao X, He Y, Li C, Zhang X, Xu H, Wang B. | 03/4/2017 |
| analysis of two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobate in NCSTN | Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.
Ratnamala U, Jhala D, Jain NK, Saiyed NM, Raveendrababu M, Rao MV, Mehta TY, Al-Ali FM, Raval K, Nair S, Chandramohan NK, Kuracha MR, Nath SK, Radhakrishna U. | 02/18/2017 |
| Case Report: large Chinese family harboring novel NCSTN mutation associated with acne inversa. | Characterization of a Novel Mutation in the NCSTN Gene in a Large Chinese Family with Acne Inversa.
Zhang S, Meng J, Jiang M, Zhao J. | 01/14/2017 |
| Nicastrin mutation is associated with schizophrenia. | Loss of Nicastrin from Oligodendrocytes Results in Hypomyelination and Schizophrenia with Compulsive Behavior.
Dries DR, Zhu Y, Brooks MM, Forero DA, Adachi M, Cenik B, West JM, Han YH, Yu C, Arbella J, Nordin A, Adolfsson R, Del-Favero J, Lu QR, Callaerts P, Birnbaum SG, Yu G., Free PMC Article | 12/17/2016 |
| haploinsufficiency of the NCSTN gene caused by the nonsense mutation c.1258C>T (p.Q420X) contributes to the occurrence of hidradenitis suppurativa in this family. | Haploinsufficiency caused by a nonsense mutation in NCSTN underlying hidradenitis suppurativa in a Chinese family.
Yang JQ, Wu XJ, Dou TT, Jiao T, Chen XB, Min M, Cai SQ, Zheng M. | 09/10/2016 |
| The "Lid" domain of nicastrin is not essential for regulating gamma-secretase activity. | Evidence That the "Lid" Domain of Nicastrin Is Not Essential for Regulating γ-Secretase Activity.
Zhang X, Sullivan E, Scimeca M, Wu X, Li YM, Sisodia SS., Free PMC Article | 08/6/2016 |
| SNPs in Notch pathway genes may be predictors of cutaneous melanoma disease-specific survival. | Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma.
Zhang W, Liu H, Liu Z, Zhu D, Amos CI, Fang S, Lee JE, Wei Q., Free PMC Article | 04/2/2016 |
| Tumor necrosis factor-alpha and interleukin-10 levels were elevated in acne inversa patients with nicastrin or presenilin enhancer mutation. | γ-Secretase Mutation and Consequently Immune Reaction Involved in Pathogenesis of Acne Inversa.
Wang B. | 03/19/2016 |
| A strategy focused on MAPT, APP, NCSTN and BACE1 to build blood classifiers for Alzheimer's disease. | A strategy focused on MAPT, APP, NCSTN and BACE1 to build blood classifiers for Alzheimer's disease.
Herrera-Rivero M, Elena Hernández-Aguilar M, Emiliano Aranda-Abreu G. | 02/6/2016 |
| Akt1 phosphorylates NCT at Ser437, significantly reducing NCT stability. A phospho-deficient mutation in NCT at Ser437 stabilized its protein levels. | Akt1 phosphorylates Nicastrin to regulate its protein stability and activity.
Jo EH, Ahn JS, Mo JS, Yoon JH, Ann EJ, Baek HJ, Lee HJ, Kim SH, Kim MY, Park HS. | 11/7/2015 |
| atomic structure of human gamma-secretase at 3.4 A resolution, determined by single-particle cryo-electron microscopy | An atomic structure of human γ-secretase.
Bai XC, Yan C, Yang G, Lu P, Ma D, Sun L, Zhou R, Scheres SHW, Shi Y., Free PMC Article | 10/17/2015 |