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Page 1
Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency.
Kline BL, Siddall NA, Wijaya F, Stuart CJ, Orlando L, Bakhshalizadeh S, Afkhami F, Bell KM, Jaillard S, Robevska G, Bergen JA, Shahbazi S, Hoof A, Ayers KL, Hime GR, Sinclair AH, Tucker EJ. Kline BL, et al. Among authors: siddall na. Biol Reprod. 2024 Oct 14:ioae148. doi: 10.1093/biolre/ioae148. Online ahead of print. Biol Reprod. 2024. PMID: 39400047
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: siddall na. 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.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: siddall na. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Myc--what we have learned from flies.
Siddall NA, Lin JI, Hime GR, Quinn LM. Siddall NA, et al. Curr Drug Targets. 2009 Jul;10(7):590-601. doi: 10.2174/138945009788680400. Curr Drug Targets. 2009. PMID: 19601763 Review.
24 results