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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: kline bl. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Tucker EJ, Baker MJ, Hock DH, Warren JT, Jaillard S, Bell KM, Sreenivasan R, Bakhshalizadeh S, Hanna CA, Caruana NJ, Wortmann SB, Rahman S, Pitceathly RDS, Donadieu J, Alimi A, Launay V, Coppo P, Christin-Maitre S, Robevska G, van den Bergen J, Kline BL, Ayers KL, Stewart PN, Stroud DA, Stojanovski D, Sinclair AH. Tucker EJ, et al. Among authors: kline bl. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3328-3340. doi: 10.1210/clinem/dgac528. J Clin Endocrinol Metab. 2022. PMID: 36074910 Free PMC article.
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Tucker EJ, Gutfreund N, Belaud-Rotureau MA, Gilot D, Brun T, Kline BL, Bell KM, Domin-Bernhard M, Théard C, Touraine P, Robevska G, van van den Bergen J, Ayers KL, Sinclair AH, Dötsch V, Jaillard S. Tucker EJ, et al. Among authors: kline bl. Hum Mutat. 2022 Oct;43(10):1443-1453. doi: 10.1002/humu.24432. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35801529 Free PMC article.