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Early-set POMC methylation variability is accompanied by increased risk for obesity and is addressable by MC4R agonist treatment.
Lechner L, Opitz R, Silver MJ, Krabusch PM, Prentice AM, Field MS, Stachelscheid H, Leitão E, Schröder C, Fernandez Vallone V, Horsthemke B, Jöckel KH, Schmidt B, Nöthen MM, Hoffmann P, Herms S, Kleyn PW, Megges M, Blume-Peytavi U, Weiss K, Mai K, Blankenstein O, Obermayer B, Wiegand S, Kühnen P. Lechner L, et al. Sci Transl Med. 2023 Jul 19;15(705):eadg1659. doi: 10.1126/scitranslmed.adg1659. Epub 2023 Jul 19. Sci Transl Med. 2023. PMID: 37467315
Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss.
Mahmoudi H, Redler S, Birch P, Drichel D, Dobson K, Tazi-Ahnini R, Teßmann P, Giehl KA, Kruse R, Lutz G, Hanneken S, Wolff H, Blume-Peytavi U, Becker T, Nöthen MM, Messenger AG, Böhm M, Betz RC. Mahmoudi H, et al. Arch Dermatol Res. 2013 Apr;305(3):249-53. doi: 10.1007/s00403-012-1296-3. Epub 2012 Nov 5. Arch Dermatol Res. 2013. PMID: 23124548
Investigation of six novel susceptibility loci for male androgenetic alopecia in women with female pattern hair loss.
Redler S, Dobson K, Drichel D, Heilmann S, Wolf S, Brockschmidt FF, Tazi-Ahnini R, Birch P, Teßmann P, Giehl KA, Kruse R, Lutz G, Garcia Bartels N, Hanneken S, Wolff H, Böhm M, Becker T, Blume-Peytavi U, Nöthen MM, Messenger AG, Betz RC. Redler S, et al. J Dermatol Sci. 2013 Nov;72(2):186-8. doi: 10.1016/j.jdermsci.2013.06.012. Epub 2013 Jul 16. J Dermatol Sci. 2013. PMID: 23928227 No abstract available.
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
Fischer J, Degenhardt F, Hofmann A, Redler S, Basmanav FB, Heilmann-Heimbach S, Hanneken S, Giehl KA, Wolff H, Moebus S, Kruse R, Lutz G, Blaumeiser B, Böhm M, Garcia Bartels N, Blume-Peytavi U, Petukhova L, Christiano AM, Nöthen MM, Betz RC. Fischer J, et al. Exp Dermatol. 2017 Jun;26(6):536-541. doi: 10.1111/exd.13123. Epub 2017 Mar 23. Exp Dermatol. 2017. PMID: 27306922
MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency.
Clément K, Biebermann H, Farooqi IS, Van der Ploeg L, Wolters B, Poitou C, Puder L, Fiedorek F, Gottesdiener K, Kleinau G, Heyder N, Scheerer P, Blume-Peytavi U, Jahnke I, Sharma S, Mokrosinski J, Wiegand S, Müller A, Weiß K, Mai K, Spranger J, Grüters A, Blankenstein O, Krude H, Kühnen P. Clément K, et al. Nat Med. 2018 May;24(5):551-555. doi: 10.1038/s41591-018-0015-9. Epub 2018 May 7. Nat Med. 2018. PMID: 29736023 Clinical Trial.
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials.
Clément K, van den Akker E, Argente J, Bahm A, Chung WK, Connors H, De Waele K, Farooqi IS, Gonneau-Lejeune J, Gordon G, Kohlsdorf K, Poitou C, Puder L, Swain J, Stewart M, Yuan G, Wabitsch M, Kühnen P; Setmelanotide POMC and LEPR Phase 3 Trial Investigators. Clément K, et al. Lancet Diabetes Endocrinol. 2020 Dec;8(12):960-970. doi: 10.1016/S2213-8587(20)30364-8. Epub 2020 Oct 30. Lancet Diabetes Endocrinol. 2020. PMID: 33137293 Clinical Trial.
A Melanocortin-4 Receptor Agonist Induces Skin and Hair Pigmentation in Patients with Monogenic Mutations in the Leptin-Melanocortin Pathway.
Kanti V, Puder L, Jahnke I, Krabusch PM, Kottner J, Vogt A, Richter C, Andruck A, Lechner L, Poitou C, Krude H, Gottesdiener K, Clément K, Farooqi IS, Wiegand S, Kühnen P, Blume-Peytavi U. Kanti V, et al. Skin Pharmacol Physiol. 2021;34(6):307-316. doi: 10.1159/000516282. Epub 2021 May 31. Skin Pharmacol Physiol. 2021. PMID: 34058738 Clinical Trial.
Case Report: Rubella Virus-Induced Cutaneous Granulomas in Two Pediatric Patients With DNA Double Strand Breakage Repair Disorders - Outcome After Hematopoietic Stem Cell Transplantation.
Baumann U, Schulte JH, Groß JP, Beier R, Ludwig M, Wahn V, Hofmann J, Maecker-Kolhoff B, Sauer M, Kaiser-Labusch P, Karimian N, Blume-Peytavi U, Ghoreschi F, Ott H, Perelygina L, Klemann C, Blankenstein O, von Bernuth H, Krüger R. Baumann U, et al. Front Immunol. 2022 Jun 2;13:886540. doi: 10.3389/fimmu.2022.886540. eCollection 2022. Front Immunol. 2022. PMID: 35720367 Free PMC article.
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
Forstbauer LM, Brockschmidt FF, Moskvina V, Herold C, Redler S, Herzog A, Hillmer AM, Meesters C, Heilmann S, Albert F, Alblas M, Hanneken S, Eigelshoven S, Giehl KA, Jagielska D, Blume-Peytavi U, Garcia Bartels N, Kuhn J, Hennies HC, Goebeler M, Jung A, Peitsch WK, Kortüm AK, Moll I, Kruse R, Lutz G, Wolff H, Blaumeiser B, Böhm M, Kirov G, Becker T, Nöthen MM, Betz RC. Forstbauer LM, et al. Eur J Hum Genet. 2012 Mar;20(3):326-32. doi: 10.1038/ejhg.2011.185. Epub 2011 Oct 26. Eur J Hum Genet. 2012. PMID: 22027810 Free PMC article.
360 results