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Fibroblast morphology, growth rate and gene expression in facial melasma.
Espósito ACC, Brianezi G, Miot LDB, Miot HA. Espósito ACC, et al. An Bras Dermatol. 2022 Sep-Oct;97(5):575-582. doi: 10.1016/j.abd.2021.09.012. Epub 2022 Jul 12. An Bras Dermatol. 2022. PMID: 35840442 Free PMC article.

The cell growth rate was lower for the melasma samples after eight days (p < 0.01). TheWNT3A, EDN3, ESR2, PTG2, MMP1, and SOD2 genes were up-regulated, whereas the COL4A1, CSF2, DKK3, COL7A1, TIMP4, CCL2, and CDH11 genes were down-regulated in melasma skin fibroblasts w

The cell growth rate was lower for the melasma samples after eight days (p < 0.01). TheWNT3A, EDN3, ESR2, PTG2, MMP1, and SOD2 gen

Integrated analysis of tumor mutation burden and immune infiltrates in endometrial cancer.
Zhou H, Chen L, Lei Y, Li T, Li H, Cheng X. Zhou H, et al. Curr Probl Cancer. 2021 Apr;45(2):100660. doi: 10.1016/j.currproblcancer.2020.100660. Epub 2020 Sep 29. Curr Probl Cancer. 2021. PMID: 33012523
DEGs in 2 TMB groups were mostly enriched in adaptive immune response and immunoglobulin/immune receptor component. A TMB-related signature consisting of GFAP, EDN3, CXCR3, PLXNA4, SST presented good predictability with area under the curve (AUC) = 0.686. ...TMB was not on …
DEGs in 2 TMB groups were mostly enriched in adaptive immune response and immunoglobulin/immune receptor component. A TMB-related signature …
Endothelin-3 is epigenetically silenced in endometrioid endometrial cancer.
Zmarzły N, Januszyk S, Mieszczański P, Morawiec E, Buda P, Dziobek K, Opławski M, Boroń D. Zmarzły N, et al. J Cancer Res Clin Oncol. 2023 Aug;149(9):5687-5696. doi: 10.1007/s00432-022-04525-w. Epub 2022 Dec 21. J Cancer Res Clin Oncol. 2023. PMID: 36542159 Free PMC article.
They can be caused by epigenetic modifications and modulators, but little is known about endothelin-3 (EDN3), particularly in endometrial cancer. The aim of the study was to determine the expression profile of endothelin family and their interactions with miR …
They can be caused by epigenetic modifications and modulators, but little is known about endothelin-3 (EDN3), particula …
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Li X, Huang S, Wang G, Kang D, Han M, Wu X, Yang J, Zheng Q, Zhao C, Yuan Y, Dai P. Li X, et al. Hum Genet. 2023 Mar;142(3):419-430. doi: 10.1007/s00439-022-02517-x. Epub 2022 Dec 28. Hum Genet. 2023. PMID: 36576601
Waardenburg syndrome (WS) is a rare inherited autosomal dominant disorder caused by SOX10, PAX3, MITF, EDNRB, EDN3, and SNAI2. A large burden of pathogenic de novo variants is present in patients with WS, which may be derived from parental mosaicism. ...
Waardenburg syndrome (WS) is a rare inherited autosomal dominant disorder caused by SOX10, PAX3, MITF, EDNRB, EDN3, and SNAI2. A larg …
An endothelial regulatory module links blood pressure regulation with elite athletic performance.
Fegraeus K, Rosengren MK, Naboulsi R, Orlando L, Åbrink M, Jouni A, Velie BD, Raine A, Egner B, Mattsson CM, Lång K, Zhigulev A, Björck HM, Franco-Cereceda A, Eriksson P, Andersson G, Sahlén P, Meadows JRS, Lindgren G. Fegraeus K, et al. PLoS Genet. 2024 Jun 17;20(6):e1011285. doi: 10.1371/journal.pgen.1011285. eCollection 2024 Jun. PLoS Genet. 2024. PMID: 38885195 Free PMC article.
A previous selective sweep analysis of horse racing performance revealed a 19.6 kb candidate regulatory region 50 kb downstream of the Endothelin3 (EDN3) gene. Here, the region was narrowed to a 5.5 kb span of 14 SNVs, with elite and sub-elite haplotypes analyzed for assoc …
A previous selective sweep analysis of horse racing performance revealed a 19.6 kb candidate regulatory region 50 kb downstream of the Endot …
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J. Li S, et al. BMC Med Genomics. 2022 Nov 3;15(1):230. doi: 10.1186/s12920-022-01379-6. BMC Med Genomics. 2022. PMID: 36329483 Free PMC article.
METHODS: All probands underwent screening for the known WS-related genes including PAX3, SOX10, MITF, EDNRB, EDN3, and SNAI2 using next-generation sequencing to identify disease-causing genes. ...
METHODS: All probands underwent screening for the known WS-related genes including PAX3, SOX10, MITF, EDNRB, EDN3, and SNAI2 using ne …
Identification of Immune Cells and Key Genes associated with Alzheimer's Disease.
Liu C, Zhang X, Chai H, Xu S, Liu Q, Luo Y, Li S. Liu C, et al. Int J Med Sci. 2022 Jan 1;19(1):112-125. doi: 10.7150/ijms.66422. eCollection 2022. Int J Med Sci. 2022. PMID: 34975305 Free PMC article.
We revealed 10 key genes associated with AD and M1 macrophages by LASSO and RF analysis, including ARMCX5, EDN3, GPR174, MRPL23, RAET1E, ROD1, TRAF1, WNT7B, OR4K2 and ZNF543. ...We also validated the key genes in an independent dataset, and found GPR174, TRAF1, ROD1, RAET1 …
We revealed 10 key genes associated with AD and M1 macrophages by LASSO and RF analysis, including ARMCX5, EDN3, GPR174, MRPL23, RAET …
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.
Kurihara Y, Ekimoto T, Gordon CT, Uchijima Y, Sugiyama R, Kitazawa T, Iwase A, Kotani R, Asai R, Pingault V, Ikeguchi M, Amiel J, Kurihara H. Kurihara Y, et al. J Clin Invest. 2023 Feb 15;133(4):e151536. doi: 10.1172/JCI151536. J Clin Invest. 2023. PMID: 36637912 Free PMC article.
Mouse models carrying either of these missense mutations exhibited a partial maxillary-to-mandibular transformation, which was rescued by deleting the ligand endothelin 3 (ET3/EDN3). Pharmacological experiments confirmed the causative ETAR mutations as …
Mouse models carrying either of these missense mutations exhibited a partial maxillary-to-mandibular transformation, which was rescued by de …
A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.
Chen S, Jin Y, Xie L, Xie W, Xu K, Qiu Y, Bai X, Zhang HM, Liu XZ, Wang XH, Kong WJ, Sun Y. Chen S, et al. Neural Plast. 2020 Aug 28;2020:9260807. doi: 10.1155/2020/9260807. eCollection 2020. Neural Plast. 2020. PMID: 32908492 Free PMC article.
WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 can cause corresponding types of WS. Among them, SOX10 mutation is responsible for approximately 15% of type II WS or 50% of ty …
WS is classified into four types depending on the clinical phenotypes. Currently, pathogenic mutation of PAX3, MITF, EDNRB, EDN3, SNA …