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FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: melis d. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb.
Resaz R, Raggi F, Segalerba D, Lavarello C, Gamberucci A, Bosco MC, Astigiano S, Assunto A, Melis D, D'Acierno M, Veiga-da-Cunha M, Petretto A, Marcolongo P, Trepiccione F, Eva A. Resaz R, et al. Among authors: melis d, d acierno m. Mol Genet Metab Rep. 2021 Oct 20;29:100813. doi: 10.1016/j.ymgmr.2021.100813. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712576 Free PMC article.
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
Melis D, Rossi A, Pivonello R, Salerno M, Balivo F, Spadarella S, Muscogiuri G, Casa RD, Formisano P, Andria G, Colao A, Parenti G. Melis D, et al. Orphanet J Rare Dis. 2015 Jul 29;10:91. doi: 10.1186/s13023-015-0301-2. Orphanet J Rare Dis. 2015. PMID: 26219379 Free PMC article.
164 results