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Barbara Arbeithuber

As seen in: PLOS Biology, MDPI, Science Magazine
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Articles

Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations

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By Kejie Chen, Anand Ranjan, Gavin D. Madakumbura, Barbara Arbeithuber
| Science Magazine Verified
Abstract Mitochondria, cellular powerhouses, harbor DNA [mitochondrial DNA (mtDNA)] inherited from the mothers. mtDNA mutations can cause diseases, yet whether they increase with age in human oocytes remains understudied. Here, using highly accurate duplex sequencing, we detected de novo mutations in single oocytes, blood, and saliva in women 20 to 42 years of age. We found that, with age, mutations increased in blood and saliva but not in oocytes.
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Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation

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By Yasmin Striedner, Barbara Arbeithuber, Sofia Moura, Elisabeth Nowak
| MDPI
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
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Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Its Implications in Meiotic Differentiation

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By Barbara Arbeithuber, Elisabeth Nowak, Yasmin Striedner, Sofia Moura
| preprints.org
Preprint Article Version 1 This version is not peer-reviewed Version 1 : Received: 3 January 2024 / Approved: 4 January 2024 / Online: 4 January 2024 (07:43:47 CET) Striedner, Y.; Arbeithuber, B.; Moura, S.; Nowak, E.; Reinhardt, R.; Muresan, L.; Salazar, R.; Ebner, T.; Tiemann-Boege, I. Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Its Implications in Meiotic Differentiation. Preprints 2024, 2024010347.
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