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2020 6
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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 …
Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease.
Nomura T. Nomura T. Front Immunol. 2020 May 20;11:847. doi: 10.3389/fimmu.2020.00847. eCollection 2020. Front Immunol. 2020. PMID: 32508815 Free PMC article. Review.
Although its precise pathogenic mechanisms remain unknown, I herein emphasize the importance of the following three recent discoveries in the pathogenesis of HS: First, heterozygous loss-of-function mutations in the genes encoding gamma-secretase, including NCSTN, PSENEN, …
Although its precise pathogenic mechanisms remain unknown, I herein emphasize the importance of the following three recent discoveries in th …
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 …
Negative evidence for a role of APH1B T27I variant in Alzheimer's disease.
Zhang X, Zhang C, Prokopenko D, Liang Y, Han W, Tanzi RE, Sisodia SS. Zhang X, et al. Hum Mol Genet. 2020 Apr 15;29(6):955-966. doi: 10.1093/hmg/ddaa017. Hum Mol Genet. 2020. PMID: 31995180
The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-onset; autosomal dominant forms of Alzheimer's disease (AD) are caused by inheritance of mutations of PS. No mutations in genes encoding NCT, o …
The complex is composed of presenilin (PS1 or PS2), anterior pharynx defect-1 (APH-1), nicastrin (NCT) and PEN-2 and early-ons …
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 …
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.
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. ...METHODS: HaCaT cells were divided into an experimental group (PSENEN knock down), a negative control group, and a blank control group. ...
BACKGROUND: The effects of PSENEN mutations in patients with acne inversa (AI) are poorly understood. ...METHODS: HaCaT cells were di …
KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.
Jia W, Zhang Y, Wang X, Luo L, Sun H, Jiang Y, Wang J, Mao Q, Guo Y, Kong L, Mo R, Li C. Jia W, et al. Exp Dermatol. 2023 Jun;32(6):752-765. doi: 10.1111/exd.14761. Epub 2023 Mar 4. Exp Dermatol. 2023. PMID: 36809573
But the effect of KRT5, expressed only in keratinocytes, on melanocytes is unclear. Other pathogenic genes of DDD include POFUT1, POGLUT1 and PSENEN genes, which is involved in posttranslational modification of Notch receptor. ...
But the effect of KRT5, expressed only in keratinocytes, on melanocytes is unclear. Other pathogenic genes of DDD include POFUT1, POGLUT1 an …
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 …
Full exome sequencing of 11 families with Hidradenitis suppurativa.
Theut Riis P, Loft IC, Yazdanyar S, Kjaersgaard Andersen R, Pedersen OB, Ring HC, Huber R, Sultan M, Loesche C, Saunte DML, Jemec GBE. Theut Riis P, et al. J Eur Acad Dermatol Venereol. 2021 May;35(5):1203-1211. doi: 10.1111/jdv.17095. Epub 2021 Mar 3. J Eur Acad Dermatol Venereol. 2021. PMID: 33336462
RESULTS: We found mutations in the Notch pathway for all families. We found mutations in the PSENEN and APH1B of the gamma-secretase genes. We also report 161 variants of unknown significance that segregated with the disease within these families. ...
RESULTS: We found mutations in the Notch pathway for all families. We found mutations in the PSENEN and APH1B of the gamma-secretase …
17 results