The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

By L. Crisponi, M. Deiana, A. Loi, F. Chiappe, M. Uda, P. Amati, L. Bisceglia, L. Zelante, R. Nagaraja, S. Porcu and 12 more. Nature Genetics, 2001

952 citations recorded by the source corpus.

Subfields: Genetics, Plant Science, Public Health, Environmental and Occupational Health

View Paper: https://www.semanticscholar.org/paper/bb17f0edad487574b9dab0f6544bf4b95f520b82

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In Genetics

1. D. Kleinjan
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In Public Health, Environmental and Occupational Health

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Citations in the corpus

• Forkhead transcription factors: key players in development and metabolism. (2002, background): “…al., 2001 FOXL2 Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES); can be associated with ovarian failure (BPES type I) Autosomal dominant Crisponi et al., 2001; De Baere et al., 2001; Prueitt and Zinn, 2001 FOXN1 T cell immunodeficiency combined with alopecia and dystrophic…”
• The variability of female reproductive ageing. (2002, background): “…causes including deletions of the Xchromosome (Devi and Benn, 1999; Davis et al., 2000), fragile-X carriership (Allingham-Hawkins et al., 1999; Marozzi et al., 2000; Hundscheid et al., 2001), FSH receptor mutations (Aittomaki et al., 1996) and mutations in the FOXL2 gene (Crisponi et al., 2001).”
• A forkhead-domain gene is mutated in a severe speech and language disorder (2001, neutral): “, blepharophimosis/ptosis/epicanthus inversus (BPES) syndrome (FOXL2”
• Long-range control of gene expression: emerging mechanisms and disruption in disease. (2005, background): “Coding-region mutations in FOXL2 lead to blepharophimosis-ptosis-epicanthus inversus syndrome (MIM 110100), an eyelid and forehead dysmorphology in both sexes that is often associated with gonadal dysgenesis and premature ovarian failure in women (Crisponi et al. 2001).”
• Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. (2009, neutral): “FOXL2 mutations in the human germline lead to the autosomal dominant blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) associated with premature ovarian failure in females (Crisponi et al., 2001).”
• The mammalian ovary from genesis to revelation. (2009, background): “Although the somatic mutation in the current study occurs on the surface of the forkhead DNA-binding domain, the impact on FOXL2 function remains unclear.”