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Page 1
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
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.
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.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: altmuller j. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: altmuller j. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC article.
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.
The Fate of Oxidative Strand Breaks in Mitochondrial DNA.
Trombly G, Said AM, Kudin AP, Peeva V, Altmüller J, Becker K, Köhrer K, Zsurka G, Kunz WS. Trombly G, et al. Among authors: altmuller j. Antioxidants (Basel). 2023 May 12;12(5):1087. doi: 10.3390/antiox12051087. Antioxidants (Basel). 2023. PMID: 37237953 Free PMC article.
361 results