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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, Rossi C, Burkitt-Wright EM, Farrotti A, Stellacci E, Cecchetti S, Ferese R, Bottero L, Castro S, Fenneteau O, Brethon B, Sanchez M, Roberts AE, Yntema HG, Van Der Burgt I, Cianci P, Bondeson ML, Cristina Digilio M, Zampino G, Kerr B, Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M. Flex E, et al. Among authors: di schiavi e. Hum Mol Genet. 2014 Aug 15;23(16):4315-27. doi: 10.1093/hmg/ddu148. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705357 Free PMC article.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics; Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Among authors: di schiavi e. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Di Rocco M, Galosi S, Lanza E, Tosato F, Caprini D, Folli V, Friedman J, Bocchinfuso G, Martire A, Di Schiavi E, Leuzzi V, Martinelli S. Di Rocco M, et al. Among authors: di schiavi e. Hum Mol Genet. 2022 Mar 21;31(6):929-941. doi: 10.1093/hmg/ddab296. Hum Mol Genet. 2022. PMID: 34622282 Free PMC article.
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. Cordeddu V, et al. Among authors: di schiavi e. Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16. Nat Genet. 2009. PMID: 19684605 Free PMC article.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG. Poeta L, et al. Among authors: di schiavi e. Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254. Hum Mol Genet. 2019. PMID: 31691806 Free PMC article.
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.
Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG. Drongitis D, et al. Among authors: di schiavi e. Hum Mol Genet. 2022 Jun 4;31(11):1884-1908. doi: 10.1093/hmg/ddac028. Hum Mol Genet. 2022. PMID: 35094084 Free PMC article.
Kallmann's syndrome and normosmic isolated hypogonadotropic hypogonadism: two largely overlapping manifestations of one rare disorder.
Network for Central Hypogonadism (Network Ipogonadismo Centrale, NICe) of Italian Societies of Endocrinology (SIE), of Andrology and Sexual Medicine (SIAMS) and of Peadiatric Endocrinology and Diabetes (SIEDP). Network for Central Hypogonadism (Network Ipogonadismo Centrale, NICe) of Italian Societies of Endocrinology (SIE), of Andrology and Sexual Medicine (SIAMS) and of Peadiatric Endocrinology and Diabetes (SIEDP). J Endocrinol Invest. 2014 May;37(5):499-500. doi: 10.1007/s40618-014-0063-z. Epub 2014 Apr 9. J Endocrinol Invest. 2014. PMID: 24715232 Free article. No abstract available.
48 results