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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE. Ullah F, et al. Among authors: bell km. Hum Genet. 2021 Dec;140(12):1733-1751. doi: 10.1007/s00439-021-02380-2. Epub 2021 Oct 13. Hum Genet. 2021. PMID: 34647195
SOX8 expression during chick embryogenesis.
Bell KM, Western PS, Sinclair AH. Bell KM, et al. Mech Dev. 2000 Jun;94(1-2):257-60. doi: 10.1016/s0925-4773(00)00296-3. Mech Dev. 2000. PMID: 10842083 Free article.
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. White S, et al. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: bell km. Hum Mutat. 2019 Jul;40(7):886-892. doi: 10.1002/humu.23744. Epub 2019 Mar 29. Hum Mutat. 2019. PMID: 30924587
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S, McElreavy K, Robevska G, Akloul L, Ghieh F, Sreenivasan R, Beaumont M, Bashamboo A, Bignon-Topalovic J, Neyroud AS, Bell K, Veron-Gastard E, Launay E, van den Bergen J, Nouyou B, Vialard F, Belaud-Rotureau MA, Ayers KL, Odent S, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Mol Hum Reprod. 2020 Sep 1;26(9):665-677. doi: 10.1093/molehr/gaaa050. Mol Hum Reprod. 2020. PMID: 32634216 Free article.
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing.
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jääskeläinen T, Palvimo JJ, Robevska G, Launay E, Satié AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, Domin-Bernhard M, Cornevin L, Dejucq-Rainsford N, Belaud-Rotureau MA, Odent S, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Maturitas. 2020 Nov;141:9-19. doi: 10.1016/j.maturitas.2020.06.004. Epub 2020 Jun 20. Maturitas. 2020. PMID: 33036707 Free article.
166 results