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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: prudente s. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A. Prudente S, et al. Am J Hum Genet. 2015 Jul 2;97(1):177-85. doi: 10.1016/j.ajhg.2015.05.011. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073777 Free PMC article.
The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance.
Miscio G, Tassi V, Coco A, Soccio T, Di Paola R, Prudente S, Baratta R, Frittitta L, Ludovico O, Padovano L, Dallapiccola B, Di Mario U, De Cosmo S, Trischitta V. Miscio G, et al. Among authors: prudente s. J Mol Med (Berl). 2004 Jul;82(7):459-66. doi: 10.1007/s00109-004-0544-1. Epub 2004 May 19. J Mol Med (Berl). 2004. PMID: 15150650
82 results