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Effects of putative metformin targets on phenotypic age and leukocyte telomere length: a mendelian randomisation study using data from the UK Biobank.
Luo S, Wong ICK, Chui CSL, Zheng J, Huang Y, Schooling CM, Yeung SLA. Luo S, et al. Lancet Healthy Longev. 2023 Jul;4(7):e337-e344. doi: 10.1016/S2666-7568(23)00085-5. Lancet Healthy Longev. 2023. PMID: 37421961 Free article.
METHODS: In this drug target mendelian randomisation study, we assessed the target-specific effect of four putative targets of metformin (AMPK, ETFDH, GPD1, and PEN2), involving ten genes. Genetic variants with evidence of causation of gene expression, glycated haemoglobin …
METHODS: In this drug target mendelian randomisation study, we assessed the target-specific effect of four putative targets of metformin (AM …
γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.
Wang Z, Yan Y, Wang B. Wang Z, et al. Dermatology. 2021;237(5):698-704. doi: 10.1159/000512455. Epub 2020 Dec 17. Dermatology. 2021. PMID: 33333507 Free PMC article.
The protein complex consists of four hydrophobic proteins: presenilin, presenilin enhancer-2 (PSENEN), nicastrin, and anterior pharynx defective 1 (APH1). To date, 57 mutations of gamma-secretase genes have been reported in 70 patients or families worldwide, including 39 i …
The protein complex consists of four hydrophobic proteins: presenilin, presenilin enhancer-2 (PSENEN), nicastrin, and anterior pharyn …
Pen2/ErbB4 signaling regulates stemness of pancreatic ductal carcinoma.
Zhu Z, Ding D, Hu H, He T. Zhu Z, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Oct;1870(7):167316. doi: 10.1016/j.bbadis.2024.167316. Epub 2024 Jun 18. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38901650
Pen2-positive cells were sorted from Pen2-negative ones in PDAC cells transduced with a vector designed to express green fluorescent protein (GFP) under the Pen2 promoter. ...Altering Pen2 levels reversed these oncogenic effects. In vivo, Pen2-p …
Pen2-positive cells were sorted from Pen2-negative ones in PDAC cells transduced with a vector designed to express green fluor …
RACGAP1 is a pivotal gene in lung adenocarcinoma-associated membranous nephropathy: Based on comprehensive bioinformatics analysis and machine learning.
Xu Q, Li J, Zhuo L, Gao H, Yang Y, Li W. Xu Q, et al. Int Immunopharmacol. 2024 Sep 30;139:112783. doi: 10.1016/j.intimp.2024.112783. Epub 2024 Jul 27. Int Immunopharmacol. 2024. PMID: 39068752 Free article.
In patients with lung adenocarcinoma-associated MN, RACGAP1, COL3A1, PSENEN, and TNFRSF10B were higher expressed in the glomerular, especially RACGAP1, indicating an important role in the pathogenesis of LUAD-associated membranous nephropathy. CONCLUSIONS: Our study unders …
In patients with lung adenocarcinoma-associated MN, RACGAP1, COL3A1, PSENEN, and TNFRSF10B were higher expressed in the glomerular, e …
PSENEN influences the progression of renal clear cell carcinoma by regulating the immune microenvironment and oxidative phosphorylation.
Huang C, Chen K, Zhu S, Yang X, Hou J, Gu X. Huang C, et al. PeerJ. 2024 Nov 29;12:e18457. doi: 10.7717/peerj.18457. eCollection 2024. PeerJ. 2024. PMID: 39624136 Free PMC article.
BACKGROUND: Presenilin enhancer gamma-secretase subunit (PSENEN), the straight target of metformin, is highly expressed in several cancers. The role of PSENEN in kidney renal clear cell carcinoma (KIRC) has not been reported. ...PSENEN is a novel prognostic m …
BACKGROUND: Presenilin enhancer gamma-secretase subunit (PSENEN), the straight target of metformin, is highly expressed in several ca …
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
Mutations in KRT5, POGLUT-1 and POFUT-1 genes have been associated with DDD, and loss-of-function mutations in PSENEN, a subunit of the gamma-secretase complex, were found in patients presenting with DDD or DDD comorbid with hidradenitis suppurativa (HS). ...
Mutations in KRT5, POGLUT-1 and POFUT-1 genes have been associated with DDD, and loss-of-function mutations in PSENEN, a subunit of t …
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Kjærsgaard Andersen R, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters B, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Kjærsgaard Andersen R, et al. J Am Acad Dermatol. 2025 Apr;92(4):761-772. doi: 10.1016/j.jaad.2024.11.050. Epub 2024 Dec 5. J Am Acad Dermatol. 2025. PMID: 39645042 Free article.
Four associations point to candidate causal genes, NCSTN, PSENEN, WNT10A, and TMED10, that all map to the Notch and Wnt/beta-catenin signaling pathways, involved in epidermal keratinization. ...
Four associations point to candidate causal genes, NCSTN, PSENEN, WNT10A, and TMED10, that all map to the Notch and Wnt/beta-catenin …
Mutations in gamma-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa.
Zhou P, Liu J, Xu T, Guo Y, Han Y, He Y, Lin L, Xiao X. Zhou P, et al. J Dermatol Sci. 2021 Aug;103(2):73-81. doi: 10.1016/j.jdermsci.2021.06.007. Epub 2021 Jun 18. J Dermatol Sci. 2021. PMID: 34330582
BACKGROUND: The effects of PSENEN mutations in patients with acne inversa (AI) are poorly understood. Hyperproliferation of follicular keratinocytes and resulting occlusion may constitute the initial pathophysiology. OBJECTIVE: To investigate the effects of PSENEN k …
BACKGROUND: The effects of PSENEN mutations in patients with acne inversa (AI) are poorly understood. Hyperproliferation of follicula …
First PSENEN mutation in PASH syndrome.
Zhang X, He Y, Xu H, Wang B. Zhang X, et al. J Dermatol. 2020 Nov;47(11):1335-1337. doi: 10.1111/1346-8138.15527. Epub 2020 Aug 7. J Dermatol. 2020. PMID: 32770559 No abstract available.
Evaluation of PEN2-ATP6AP1 axis as an antiparasitic target for metformin based on phylogeny analysis and molecular docking.
Liu C, Zhang S, Xue J, Zhang H, Yin J. Liu C, et al. Mol Biochem Parasitol. 2023 Sep;255:111580. doi: 10.1016/j.molbiopara.2023.111580. Epub 2023 Jul 18. Mol Biochem Parasitol. 2023. PMID: 37473813
METHODS: To explore the possibility of PEN2-ATP6AP1 axis as a drug target of Met for the treatment of parasitic diseases, we identified and characterized orthologs of PEN2 and ATP6AP1 genes in parasites, by constructing phylogenetic trees, analyzing protein sequence …
METHODS: To explore the possibility of PEN2-ATP6AP1 axis as a drug target of Met for the treatment of parasitic diseases, we identifi …
20 results