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Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: auinger l. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Schaflinger E, Blatterer J, Khan AS, Kaufmann L, Auinger L, Tatrai B, Abbasi SW, Zeeshan Ali M, Abbasi AA, Al Kaissi A, Petek E, Wagner K, Ahmad Khan M, Windpassinger C. Schaflinger E, et al. Among authors: auinger l. Gene. 2022 Jul 30;833:146582. doi: 10.1016/j.gene.2022.146582. Epub 2022 May 18. Gene. 2022. PMID: 35597529 Free article.
Human gene-engineered calreticulin mutant stem cells recapitulate MPN hallmarks and identify targetable vulnerabilities.
Foßelteder J, Pabst G, Sconocchia T, Schlacher A, Auinger L, Kashofer K, Beham-Schmid C, Trajanoski S, Waskow C, Schöll W, Sill H, Zebisch A, Wölfler A, Thomas D, Reinisch A. Foßelteder J, et al. Among authors: auinger l. Leukemia. 2023 Apr;37(4):843-853. doi: 10.1038/s41375-023-01848-6. Epub 2023 Feb 22. Leukemia. 2023. PMID: 36813992 Free PMC article.
BRAFV600E promotes DC3/monocyte differentiation in human gene-engineered HSPCs and causes multisystem histiocytosis.
Sconocchia T, Foßelteder J, Auinger L, Özkaya E, Benezeder T, Lang M, Beham-Schmid C, Hoefler G, Zebisch A, Wölfler A, Sill H, Wolf P, Strobl H, Reinisch A. Sconocchia T, et al. Among authors: auinger l. Leukemia. 2023 Nov;37(11):2292-2296. doi: 10.1038/s41375-023-02019-3. Epub 2023 Sep 6. Leukemia. 2023. PMID: 37673974 Free PMC article. No abstract available.