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31 results

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Page 1
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, Ort MJ, Schwestka M, Ferrero GB, Tartaglia M, Brusco A, Gossen M, Strunk D, Geißler S, Mundlos S, Stricker S, Knaus P, Giorgio E, Spielmann M. Melo US, et al. Among authors: carpentieri g. Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8. Nat Commun. 2023. PMID: 37041138 Free PMC article.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Flex E, Albadri S, Radio FC, Cecchetti S, Lauri A, Priolo M, Kissopoulos M, Carpentieri G, Fasano G, Venditti M, Magliocca V, Bellacchio E, Welch CL, Colombo PC, Kochav SM, Chang R, Barrick R, Trivisano M, Micalizzi A, Borghi R, Messina E, Mancini C, Pizzi S, De Santis F, Rosello M, Specchio N, Compagnucci C, McWalter K, Chung WK, Del Bene F, Tartaglia M. Flex E, et al. Among authors: carpentieri g. Hum Mol Genet. 2023 Jan 13;32(3):473-488. doi: 10.1093/hmg/ddac213. Hum Mol Genet. 2023. PMID: 36018820 Free PMC article.
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.
Leardini D, Flex E, Stieglitz E, Cerasi S, Bertuccio SN, Baccelli F, Kállay K, Kjollerstrom P, Batalha S, Carpentieri G, Pedace L, Ciolfi A, Hammad M, Miranda M, Rojas M, Rao A, Innes AJ, Rudelius M, Santini V, Raddi M, Teh KH, De Vito R, Yoshimi A, Tartaglia M, Locatelli F, Niemeyer CM, Masetti R. Leardini D, et al. Among authors: carpentieri g. Eur J Hum Genet. 2025 Sep;33(9):1127-1135. doi: 10.1038/s41431-025-01877-y. Epub 2025 Jun 6. Eur J Hum Genet. 2025. PMID: 40481232 Free PMC article.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Arfeuille C, Vial Y, Cadenet M, Caye-Eude A, Fenneteau O, Neven Q, Bonnard AA, Pizzi S, Carpentieri G, Capri Y, Girardi K, Pedace L, Macchiaiolo M, Boudhar K, Khaled MB, Chahla WA, Lutun A, Fahd M, Drunat S, Flex E, Dalle JH, Strullu M, Locatelli F, Tartaglia M, Cavé H. Arfeuille C, et al. Among authors: carpentieri g. Haematologica. 2024 Aug 1;109(8):2542-2554. doi: 10.3324/haematol.2023.283917. Haematologica. 2024. PMID: 37981895 Free PMC article.
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. HGG Adv. 2024 Oct 10;5(4):100349. doi: 10.1016/j.xhgg.2024.100349. Epub 2024 Aug 29. HGG Adv. 2024. PMID: 39210597 Free PMC article.
Metabolic profiling of Costello syndrome: Insights from a single-center cohort.
Leoni C, Massese M, Gervasoni J, Primiano A, Giorgio V, Onesimo R, Kuczynska E, Rigante D, Persichilli S, Carpentieri G, Flex E, Pastorino R, Tartaglia M, Zampino G. Leoni C, et al. Among authors: carpentieri g. Eur J Med Genet. 2022 Mar;65(3):104439. doi: 10.1016/j.ejmg.2022.104439. Epub 2022 Jan 29. Eur J Med Genet. 2022. PMID: 35101635
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: carpentieri g. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: carpentieri g. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
Bobone S, Pannone L, Biondi B, Solman M, Flex E, Canale VC, Calligari P, De Faveri C, Gandini T, Quercioli A, Torini G, Venditti M, Lauri A, Fasano G, Hoeksma J, Santucci V, Cattani G, Bocedi A, Carpentieri G, Tirelli V, Sanchez M, Peggion C, Formaggio F, den Hertog J, Martinelli S, Bocchinfuso G, Tartaglia M, Stella L. Bobone S, et al. Among authors: carpentieri g. J Med Chem. 2021 Nov 11;64(21):15973-15990. doi: 10.1021/acs.jmedchem.1c01371. Epub 2021 Oct 29. J Med Chem. 2021. PMID: 34714648 Free PMC article.
31 results