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Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
Zhu M, Metzen F, Hopkinson M, Betz J, Heilig J, Sodhi J, Imhof T, Niehoff A, Birk DE, Izu Y, Krüger M, Pitsillides AA, Altmüller J, van Osch GJVM, Straub V, Schreiber G, Paulsson M, Koch M, Brachvogel B. Zhu M, et al. Among authors: altmuller j. iScience. 2023 Jun 28;26(7):107225. doi: 10.1016/j.isci.2023.107225. eCollection 2023 Jul 21. iScience. 2023. PMID: 37485359 Free PMC article.
NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition.
Vesting AJ, Jais A, Klemm P, Steuernagel L, Wienand P, Fog-Tonnesen M, Hvid H, Schumacher AL, Kukat C, Nolte H, Georgomanolis T, Altmüller J, Pasparakis M, Schmidt A, Krüger M, Supprian MS, Waisman A, Straub BK, Raschzok N, Bernier M, Birkenfeld AL, Hövelmeyer N, Brüning JC, Wunderlich FT. Vesting AJ, et al. Among authors: altmuller j. Mol Metab. 2022 Dec;66:101626. doi: 10.1016/j.molmet.2022.101626. Epub 2022 Nov 7. Mol Metab. 2022. PMID: 36356831 Free PMC article.
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: altmuller j. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes.
Odenthal J, Dittrich S, Ludwig V, Merz T, Reitmeier K, Reusch B, Höhne M, Cosgun ZC, Hohenadel M, Putnik J, Göbel H, Rinschen MM, Altmüller J, Koehler S, Schermer B, Benzing T, Beck BB, Brinkkötter PT, Habbig S, Bartram MP. Odenthal J, et al. Among authors: altmuller j. Kidney Int Rep. 2022 Oct 31;8(2):317-329. doi: 10.1016/j.ekir.2022.10.024. eCollection 2023 Feb. Kidney Int Rep. 2022. PMID: 36815115 Free PMC article.
Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver.
Nikopoulou C, Kleinenkuhnen N, Parekh S, Sandoval T, Ziegenhain C, Schneider F, Giavalisco P, Donahue KF, Vesting AJ, Kirchner M, Bozukova M, Vossen C, Altmüller J, Wunderlich T, Sandberg R, Kondylis V, Tresch A, Tessarz P. Nikopoulou C, et al. Among authors: altmuller j. Nat Aging. 2023 Nov;3(11):1430-1445. doi: 10.1038/s43587-023-00513-y. Epub 2023 Nov 9. Nat Aging. 2023. PMID: 37946043 Free PMC 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.
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H. Koko M, et al. Among authors: altmuller j. Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38316952
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.
361 results