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Page 1
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: tammaro r. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Among authors: tammaro r. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma.
Carotenuto P, Romano A, Barbato A, Quadrano P, Brillante S, Volpe M, Ferrante L, Tammaro R, Morleo M, De Cegli R, Iuliano A, Testa M, Andreone F, Ciliberto G, Clery E, Troncone G, Palma G, Arra C, Barbieri A, Capone M, Madonna G, Ascierto PA, Lanfrancone L, Indrieri A, Franco B. Carotenuto P, et al. Among authors: tammaro r. Cell Rep. 2022 Nov 8;41(6):111601. doi: 10.1016/j.celrep.2022.111601. Cell Rep. 2022. PMID: 36351409 Free article.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Cappuccio G, et al. Among authors: tammaro r. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):102-108. doi: 10.1002/ajmg.c.31973. Epub 2022 Apr 30. Am J Med Genet C Semin Med Genet. 2022. PMID: 35488810 Free PMC article.
OFD1: One gene, several disorders.
Pezzella N, Bove G, Tammaro R, Franco B. Pezzella N, et al. Among authors: tammaro r. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):57-71. doi: 10.1002/ajmg.c.31962. Epub 2022 Feb 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 35112477 Free PMC article. Review.
Could Egg White Lysozyme be Solved by Single Particle Cryo-EM?
Zhang Y, Tammaro R, Peters PJ, Ravelli RBG. Zhang Y, et al. Among authors: tammaro r. J Chem Inf Model. 2020 May 26;60(5):2605-2613. doi: 10.1021/acs.jcim.9b01176. Epub 2020 May 11. J Chem Inf Model. 2020. PMID: 32202786 Free PMC article.
miR-181a/b downregulation exerts a protective action on mitochondrial disease models.
Indrieri A, Carrella S, Romano A, Spaziano A, Marrocco E, Fernandez-Vizarra E, Barbato S, Pizzo M, Ezhova Y, Golia FM, Ciampi L, Tammaro R, Henao-Mejia J, Williams A, Flavell RA, De Leonibus E, Zeviani M, Surace EM, Banfi S, Franco B. Indrieri A, et al. Among authors: tammaro r. EMBO Mol Med. 2019 May;11(5):e8734. doi: 10.15252/emmm.201708734. EMBO Mol Med. 2019. PMID: 30979712 Free PMC article.
The centrosomal OFD1 protein interacts with the translation machinery and regulates the synthesis of specific targets.
Iaconis D, Monti M, Renda M, van Koppen A, Tammaro R, Chiaravalli M, Cozzolino F, Pignata P, Crina C, Pucci P, Boletta A, Belcastro V, Giles RH, Surace EM, Gallo S, Pende M, Franco B. Iaconis D, et al. Among authors: tammaro r. Sci Rep. 2017 Apr 27;7(1):1224. doi: 10.1038/s41598-017-01156-x. Sci Rep. 2017. PMID: 28450740 Free PMC article.
17 results