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Characterization of the symmetrical benzimidazole twin drug TL1228: the role as viral entry inhibitor for fighting COVID-19.
Murdocca M, Andrade Santos-Filho O, De Masi C, Dos Santos Rodrigues E, Campos de Souza CV, De Santis R, Amatore D, Latini A, Schipani R, di Rienzo Businco L, Brandimarte B, Grilli G, Huang TL, Mayence AS, Lista F, Duranti A, Sangiuolo F, Vanden Eynde JJ, Novelli G. Murdocca M, et al. Among authors: novelli g. Biol Direct. 2024 Oct 16;19(1):93. doi: 10.1186/s13062-024-00523-9. Biol Direct. 2024. PMID: 39415197 Free PMC article.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy. Brancati F, et al. Among authors: novelli g. Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891882 Free PMC article.
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.
Donor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.
Ranucci G, Page C, Marchionni E, Minotti C, Silvestrini G, Gastaldi S, Pacitto G, Cicconi L, Biagi A, Ferradini V, Attardi E, Novelli G, Sangiuolo F, Voso MT, Gurnari C. Ranucci G, et al. Among authors: novelli g. Ann Hematol. 2024 Dec;103(12):5999-6002. doi: 10.1007/s00277-024-06140-w. Epub 2024 Dec 14. Ann Hematol. 2024. PMID: 39672944
Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course.
Stellacci E, Martinelli S, Carbone P, Demuru E, Genuardi M, Ghiorzo P, Novelli G, Di Pucchio A, Regini FM, Guerrera D, Vittozzi A, Barbina D, Venanzi S, van den Bulcke M, Boccia S, Mazzaccara A, De Nicolo A, De Angelis R. Stellacci E, et al. Among authors: novelli g. Front Med (Lausanne). 2024 Nov 21;11:1422163. doi: 10.3389/fmed.2024.1422163. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39640978 Free PMC article.
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Bellos E, Santillo D, Vantourout P, Jackson HR, Duret A, Hearn H, Seeleuthner Y, Talouarn E, Hodeib S, Patel H, Powell O, Yeoh S, Mustafa S, Habgood-Coote D, Nichols S, Estramiana Elorrieta L, D'Souza G, Wright VJ, Estrada-Rivadeneyra D, Tremoulet AH, Dummer KB, Netea SA, Condino-Neto A, Lau YL, Núñez Cuadros E, Toubiana J, Holanda Pena M, Rieux-Laucat F, Luyt CE, Haerynck F, Mège JL, Chakravorty S, Haddad E, Morin MP, Metin Akcan Ö, Keles S, Emiroglu M, Alkan G, Tüter Öz SK, Elmas Bozdemir S, Morelle G, Volokha A, Kendir-Demirkol Y, Sözeri B, Coskuner T, Yahsi A, Gulhan B, Kanik-Yuksek S, Bayhan GI, Ozkaya-Parlakay A, Yesilbas O, Hatipoglu N, Ozcelik T, Belot A, Chopin E, Barlogis V, Sevketoglu E, Menentoglu E, Gayretli Aydin ZG, Bloomfield M, AlKhater SA, Cyrus C, Stepanovskiy Y, Bondarenko A, Öz FN, Polat M, Fremuth J, Lebl J, Geraldo A, Jouanguy E; COVID-19 Human Genetic Effort; DIAMONDS; EUCLIDS; Carter MJ, Wellman P, Peters M, Pérez de Diego R, Edwards LA, Chiu C, Noursadeghi M, Bolze A, Shimizu C, Kaforou M, Hamilton MS, Herberg JA, Schmitt EG, Rodriguez-Palmero A, Pujol A, Kim J, Cobat A, Abel L, Zhang SY, Casanova JL, Kuijpers TW, Burns JC, Levin M, Hayday AC, Sancho-Shim… See abstract for full author list ➔ Bellos E, et al. J Exp Med. 2024 Dec 2;221(12):e20240699. doi: 10.1084/jem.20240699. Epub 2024 Nov 22. J Exp Med. 2024. PMID: 39576310 Free PMC article.
1,201 results