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Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Boschann F, Cogulu MÖ, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Boschann F, et al. Among authors: hansmeier nr. Genet Med. 2022 Oct;24(10):2187-2193. doi: 10.1016/j.gim.2022.07.012. Epub 2022 Aug 13. Genet Med. 2022. PMID: 35962790 Free PMC article.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Boschann F, Cogulu O, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Boschann F, et al. Among authors: hansmeier nr. Genet Med. 2023 May;25(5):100799. doi: 10.1016/j.gim.2023.100799. Epub 2023 Feb 28. Genet Med. 2023. PMID: 36853234 Free article. No abstract available.
Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies.
Hägerling R, Van Zanten M, Behncke RY, Ulferts S, Hansmeier NR, Märkl B, Witzel C, Ho B, Keeley V, Riches K, Mansour S, Gordon K, Ostergaard P, Mortimer PS. Hägerling R, et al. Among authors: hansmeier nr. JCI Insight. 2023 Oct 23;8(20):e172179. doi: 10.1172/jci.insight.172179. JCI Insight. 2023. PMID: 37698920 Free PMC article.
Single-cell, whole-embryo phenotyping of mammalian developmental disorders.
Huang X, Henck J, Qiu C, Sreenivasan VKA, Balachandran S, Amarie OV, Hrabě de Angelis M, Behncke RY, Chan WL, Despang A, Dickel DE, Duran M, Feuchtinger A, Fuchs H, Gailus-Durner V, Haag N, Hägerling R, Hansmeier N, Hennig F, Marshall C, Rajderkar S, Ringel A, Robson M, Saunders LM, da Silva-Buttkus P, Spielmann N, Srivatsan SR, Ulferts S, Wittler L, Zhu Y, Kalscheuer VM, Ibrahim DM, Kurth I, Kornak U, Visel A, Pennacchio LA, Beier DR, Trapnell C, Cao J, Shendure J, Spielmann M. Huang X, et al. Nature. 2023 Nov;623(7988):772-781. doi: 10.1038/s41586-023-06548-w. Epub 2023 Nov 15. Nature. 2023. PMID: 37968388 Free PMC article.
A MAFG-lncRNA axis links systemic nutrient abundance to hepatic glucose metabolism.
Pradas-Juni M, Hansmeier NR, Link JC, Schmidt E, Larsen BD, Klemm P, Meola N, Topel H, Loureiro R, Dhaouadi I, Kiefer CA, Schwarzer R, Khani S, Oliverio M, Awazawa M, Frommolt P, Heeren J, Scheja L, Heine M, Dieterich C, Büning H, Yang L, Cao H, Jesus DF, Kulkarni RN, Zevnik B, Tröder SE, Knippschild U, Edwards PA, Lee RG, Yamamoto M, Ulitsky I, Fernandez-Rebollo E, Vallim TQA, Kornfeld JW. Pradas-Juni M, et al. Among authors: hansmeier nr. Nat Commun. 2020 Jan 31;11(1):644. doi: 10.1038/s41467-020-14323-y. Nat Commun. 2020. PMID: 32005828 Free PMC article.
Dicer1-miR-328-Bace1 signalling controls brown adipose tissue differentiation and function.
Oliverio M, Schmidt E, Mauer J, Baitzel C, Hansmeier N, Khani S, Konieczka S, Pradas-Juni M, Brodesser S, Van TM, Bartsch D, Brönneke HS, Heine M, Hilpert H, Tarcitano E, Garinis GA, Frommolt P, Heeren J, Mori MA, Brüning JC, Kornfeld JW. Oliverio M, et al. Nat Cell Biol. 2016 Mar;18(3):328-36. doi: 10.1038/ncb3316. Epub 2016 Feb 22. Nat Cell Biol. 2016. PMID: 26900752
12 results