Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex

Autor: Morten Duno, Lasse Jonsgaard Larsen, Luís Gustavo de Almeida, Caroline Amalie Brunbjerg Hey, Thomas Rosengren, Lisbeth Birk Møller, Mark Nellist, Lotte Risom, Jakob Ek, Bitten Schönewolf-Greulich, Santoesha Nanhoe

Publikováno v: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Scientific Reports, 10(1):9909. Nature Publishing Group

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in the skin and other organs, including brain, heart, lung, kidney and bones. TSC is caused by mutations in TSC1 and TSC2. Here, we present the TSC1 and TS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878b7241992cbc1a1aec0fa4b8e0f988
http://europepmc.org/articles/PMC7303179

The KDM5 family is required for activation of pro-proliferative cell cycle genes during adipocyte differentiation

Autor: Ronni Nielsen, Qin Yan, Søren Fisker Schmidt, Jesper Grud Skat Madsen, Ann-Sofie B. Brier, Anne Loft, Susanne Mandrup, Zongzhi Liu, Hinrich Gronemeyer, Thomas Rosengren

Publikováno v: Brier, A-S B, Loft, A, Madsen, J G S, Nielsen, T R, Nielsen, R, Schmidt, S F, Liu, Z, Yan, Q, Gronemeyer, H & Mandrup, S 2017, ' The KDM 5 family is required for activation of pro-proliferative cell cycle genes during adipocyte differentiation ', Nucleic Acids Research, vol. 45, no. 4, pp. 1743-1759 . https://doi.org/10.1093/nar/gkw1156
Nucleic Acids Research
Nucleic Acids Research, 2017, 45 (4), pp.1743-1759. ⟨10.1093/nar/gkw1156⟩
Brier, A-S B, Loft, A, Madsen, J G S, Rosengren, T, Nielsen, R, Schmidt, S F, Liu, Z, Yan, Q, Gronemeyer, H & Mandrup, S 2017, ' The KDM5 family is required for activation of pro-proliferative cell cycle genes during adipocyte differentiation ', Nucleic Acids Research, vol. 45, no. 4, pp. 1743-1759 . https://doi.org/10.1093/nar/gkw1156

The KDM5 family of histone demethylases removes the H3K4 tri-methylation (H3K4me3) mark frequently found at promoter regions of actively transcribed genes and is therefore generally considered to contribute to corepression. In this study, we show tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b380f9fbf249e5aaadef1d9bff8052a2
https://doi.org/10.1093/nar/gkw1156

Corrigendum to 'Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex' [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391]

Autor: Pernille Axel Gregersen, John R. Østergaard, Lasse Jonsgaard Larsen, Lisbeth Birk Møller, C Ostenfeldt, Bitten Schönewolf-Greulich, Karen Markussen Linnet, Thomas Rosengren, Brian Stausbøl-Grøn, Mette Sommerlund, Uffe Birk Jensen

Publikováno v: Møller, L B, Schönewolf-Greulich, B, Rosengren, T, Larsen, L J, Ostergaard, J R, Sommerlund, M, Ostenfeldt, C, Stausbøl-Grøn, B, Linnet, K M, Gregersen, P A & Jensen, U B 2018, ' Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391] ', Molecular Genetics and Metabolism, vol. 125, no. 4, pp. 361-361 . https://doi.org/10.1016/j.ymgme.2017.11.007

The authors regret that two occurrences of the text p.(Ser1838Ser) appeared in the final proofs but the correct text should be p.(Ser1838Ser). In abstract, the correct sentence should be: The disease segregates with a silent substitution in TSC2, c.4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f591cbc9b099ecbc28393e7c6e73cdf4
https://doi.org/10.1016/j.ymgme.2017.11.007

2023 Cannabis Science Conference Fall Agenda.

Publikováno v: Cannabis Science & Technology. Jul/Aug2023, Vol. 6 Issue 6, p32-34. 3p.

Ferroportin in the Postnatal Rat Brain: Implications for Axonal Transport and Neuronal Export of Iron

Autor: Moos, Torben, Rosengren Nielsen, Thomas

Publikováno v: In Seminars in Pediatric Neurology 2006 13(3):149-157