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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: schroder c. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Leitão E, et al. Among authors: schroder c. Nat Commun. 2022 Nov 2;13(1):6570. doi: 10.1038/s41467-022-34264-y. Nat Commun. 2022. PMID: 36323681 Free PMC article.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: schroder c. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
A germ cell-specific ageing pattern in otherwise healthy men.
Laurentino S, Cremers JF, Horsthemke B, Tüttelmann F, Czeloth K, Zitzmann M, Pohl E, Rahmann S, Schröder C, Berres S, Redmann K, Krallmann C, Schlatt S, Kliesch S, Gromoll J. Laurentino S, et al. Among authors: schroder c. Aging Cell. 2020 Oct;19(10):e13242. doi: 10.1111/acel.13242. Epub 2020 Sep 20. Aging Cell. 2020. PMID: 32951333 Free PMC article.
Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation.
Godfrey LK, Forster J, Liffers ST, Schröder C, Köster J, Henschel L, Ludwig KU, Lähnemann D, Trajkovic-Arsic M, Behrens D, Scarpa A, Lawlor RT, Witzke KE, Sitek B, Johnsen SA, Rahmann S, Horsthemke B, Zeschnigk M, Siveke JT. Godfrey LK, et al. Among authors: schroder c. Clin Epigenetics. 2024 Jan 16;16(1):13. doi: 10.1186/s13148-024-01623-z. Clin Epigenetics. 2024. PMID: 38229153 Free PMC article.
1,176 results