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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Künstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Géli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintomé C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Sharma R, et al. Among authors: boerries m. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980. Blood. 2022. PMID: 34767620 Free PMC article.
Induction of phenotype modifying cytokines by FERMT1 mutations.
Heinemann A, He Y, Zimina E, Boerries M, Busch H, Chmel N, Kurz T, Bruckner-Tuderman L, Has C. Heinemann A, et al. Among authors: boerries m. Hum Mutat. 2011 Apr;32(4):397-406. doi: 10.1002/humu.21449. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309038 Free article.
Structural chromosome abnormalities, increased DNA strand breaks and DNA strand break repair deficiency in dermal fibroblasts from old female human donors.
Kalfalah F, Seggewiß S, Walter R, Tigges J, Moreno-Villanueva M, Bürkle A, Ohse S, Busch H, Boerries M, Hildebrandt B, Royer-Pokora B, Boege F. Kalfalah F, et al. Among authors: boerries m. Aging (Albany NY). 2015 Feb;7(2):110-22. doi: 10.18632/aging.100723. Aging (Albany NY). 2015. PMID: 25678531 Free PMC article.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C. He Y, et al. Among authors: boerries m. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889062 Free PMC article.
196 results