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XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes.
Chatzinikolaou G, Stratigi K, Siametis A, Goulielmaki E, Akalestou-Clocher A, Tsamardinos I, Topalis P, Austin C, Bouwman BAM, Crosetto N, Altmüller J, Garinis GA. Chatzinikolaou G, et al. Among authors: altmuller j. Sci Adv. 2023 Nov 10;9(45):eadi2095. doi: 10.1126/sciadv.adi2095. Epub 2023 Nov 8. Sci Adv. 2023. PMID: 37939182 Free PMC article.
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. von Brauchitsch S, et al. Among authors: altmuller j. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. Epilepsia Open. 2023. PMID: 36896643 Free PMC article.
Effective Inhibitor Removal from Wastewater Samples Increases Sensitivity of RT-dPCR and Sequencing Analyses and Enhances the Stability of Wastewater-Based Surveillance.
Linzner N, Bartel A, Schumacher V, Grau JH, Wyler E, Preuß H, Garske S, Bitzegeio J, Kirst EB, Liere K, Hoppe S, Borodina TA, Altmüller J, Landthaler M, Meixner M, Sagebiel D, Böckelmann U. Linzner N, et al. Among authors: altmuller j. Microorganisms. 2024 Dec 2;12(12):2475. doi: 10.3390/microorganisms12122475. Microorganisms. 2024. PMID: 39770678 Free PMC article.
Circulating Tumor DNA Sequencing for Biologic Classification and Individualized Risk Stratification in Patients With Hodgkin Lymphoma.
Heger JM, Mammadova L, Mattlener J, Sobesky S, Cirillo M, Altmüller J, Kirst E, Reinke S, Klapper W, Bröckelmann PJ, Ferdinandus J, Kaul H, Schneider G, Schneider J, Schleifenbaum JK, Ullrich RT, Freihammer M, Awerkiew S, Lohmann M, Klein F, Nürnberg P, Hallek M, Rossi D, Mauz-Körholz C, Gattenlöhner S, Bräuninger A, Borchmann P, von Tresckow B, Borchmann S. Heger JM, et al. Among authors: altmuller j. J Clin Oncol. 2024 Dec 10;42(35):4218-4230. doi: 10.1200/JCO.23.01867. Epub 2024 Sep 30. J Clin Oncol. 2024. PMID: 39348625
TERT Expression and Clinical Outcome in Pulmonary Carcinoids.
Werr L, Bartenhagen C, Rosswog C, Cartolano M, Voegele C, Sexton-Oates A, Di Genova A, Ernst A, Kahlert Y, Hemstedt N, Höppner S, Mansuet Lupo A, Pelosi G, Brcic L, Papotti M, George J, Bosco G, Quaas A, Tang LH, Robzyk K, Kadota K, Roh MS, Fanaroff RE, Falcon CJ, Büttner R, Lantuejoul S, Rekhtman N, Rudin CM, Travis WD, Alcala N, Fernandez-Cuesta L, Foll M, Peifer M, Thomas RK, Fischer M; Lung NEN Network. Werr L, et al. J Clin Oncol. 2025 Jan 10;43(2):214-225. doi: 10.1200/JCO.23.02708. Epub 2024 Sep 30. J Clin Oncol. 2025. PMID: 39348606 Free PMC article.
Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L. Busley AV, et al. Among authors: altmuller j. Cell Rep. 2024 Jul 23;43(7):114448. doi: 10.1016/j.celrep.2024.114448. Epub 2024 Jul 13. Cell Rep. 2024. PMID: 39003740 Free article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: altmuller j. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
367 results