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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: colombo s. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics; Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Petrovski S, et al. Among authors: colombo s. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108799 Free PMC article.
Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels.
Reddy HP, Yakubovich D, Keren-Raifman T, Tabak G, Tsemakhovich VA, Pedersen MH, Shalomov B, Colombo S, Goldstein DB, Javitch JA, Bera AK, Dascal N. Reddy HP, et al. Among authors: colombo s. iScience. 2021 Aug 21;24(9):103018. doi: 10.1016/j.isci.2021.103018. eCollection 2021 Sep 24. iScience. 2021. PMID: 34522861 Free PMC article.
Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor.
Colombo S, Reddy HP, Petri S, Williams DJ, Shalomov B, Dhindsa RS, Gelfman S, Krizay D, Bera AK, Yang M, Peng Y, Makinson CD, Boland MJ, Frankel WN, Goldstein DB, Dascal N. Colombo S, et al. Front Cell Neurosci. 2023 May 18;17:1175895. doi: 10.3389/fncel.2023.1175895. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37275776 Free PMC article.
Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy.
Shore AN, Colombo S, Tobin WF, Petri S, Cullen ER, Dominguez S, Bostick CD, Beaumont MA, Williams D, Khodagholy D, Yang M, Lutz CM, Peng Y, Gelinas JN, Goldstein DB, Boland MJ, Frankel WN, Weston MC. Shore AN, et al. Among authors: colombo s. Cell Rep. 2020 Oct 27;33(4):108303. doi: 10.1016/j.celrep.2020.108303. Cell Rep. 2020. PMID: 33113364 Free PMC article.
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency.
Dugger SA, Dhindsa RS, Sampaio GA, Ressler AK, Rafikian EE, Petri S, Letts VA, Teoh J, Ye J, Colombo S, Peng Y, Yang M, Boland MJ, Frankel WN, Goldstein DB. Dugger SA, et al. Among authors: colombo s. PLoS Genet. 2023 Oct 2;19(10):e1010952. doi: 10.1371/journal.pgen.1010952. eCollection 2023 Oct. PLoS Genet. 2023. PMID: 37782669 Free PMC article.
The pan - COVID - AGICT study. The impact of COVID-19 pandemic on surgically treated pancreatic cancer patients. A multicentric Italian study.
Dorma MPF, Giuliani G, Guerra F, Santelli F, Esposito A, De Pastena M, Turri G, Pedrazzani C, Kauffmann EF, Boggi U, Solaini L, Ercolani G, Mastrangelo L, Jovine E, Di Franco G, Morelli L, Mazzola M, Ferrari G, Langella S, Ferrero A, La Mendola R, Abu Hilal M, Depalma N, D'Ugo S, Spampinato MG, Frisini M, Brolese A, Palaia R, Belli A, Cillara N, Deserra A, Cannavera A, Sagnotta A, Mancini S, Pinotti E, Montuori M, Coppola A, Di Benedetto F, Coratti A; COVID-AGICT Collaborative Group. Dorma MPF, et al. Surg Oncol. 2024 Apr 26;54:102081. doi: 10.1016/j.suronc.2024.102081. Online ahead of print. Surg Oncol. 2024. PMID: 38729088
Responsible ownership and health education can reduce the time of sporotrichosis treatment in domestic cats.
de Souza BM, Colombo SA, do Carmo Teixeira R, Coelho IMP, Barrado WDS, Ramos BOL, Araujo ÉLM, Bicalho GC, de Azevedo MI, Keller KM, Santos Monti FD, Silva Maia LDM, de Magalhães Soares DF, de Oliveira CSF. de Souza BM, et al. Among authors: colombo sa. Prev Vet Med. 2024 Jun;227:106211. doi: 10.1016/j.prevetmed.2024.106211. Epub 2024 Apr 20. Prev Vet Med. 2024. PMID: 38691954
585 results