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Optimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell Seeding.
Maghsoudlou P, Georgiades F, Smith H, Milan A, Shangaris P, Urbani L, Loukogeorgakis SP, Lombardi B, Mazza G, Hagen C, Sebire NJ, Turmaine M, Eaton S, Olivo A, Godovac-Zimmermann J, Pinzani M, Gissen P, De Coppi P. Maghsoudlou P, et al. Among authors: smith h. PLoS One. 2016 May 9;11(5):e0155324. doi: 10.1371/journal.pone.0155324. eCollection 2016. PLoS One. 2016. PMID: 27159223 Free PMC article.
Vps33b is crucial for structural and functional hepatocyte polarity.
Hanley J, Dhar DK, Mazzacuva F, Fiadeiro R, Burden JJ, Lyne AM, Smith H, Straatman-Iwanowska A, Banushi B, Virasami A, Mills K, Lemaigre FP, Knisely AS, Howe S, Sebire N, Waddington SN, Paulusma CC, Clayton P, Gissen P. Hanley J, et al. Among authors: smith h. J Hepatol. 2017 May;66(5):1001-1011. doi: 10.1016/j.jhep.2017.01.001. Epub 2017 Jan 9. J Hepatol. 2017. PMID: 28082148 Free PMC article.
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. Among authors: smith h. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.
Banushi B, Forneris F, Straatman-Iwanowska A, Strange A, Lyne AM, Rogerson C, Burden JJ, Heywood WE, Hanley J, Doykov I, Straatman KR, Smith H, Bem D, Kriston-Vizi J, Ariceta G, Risteli M, Wang C, Ardill RE, Zaniew M, Latka-Grot J, Waddington SN, Howe SJ, Ferraro F, Gjinovci A, Lawrence S, Marsh M, Girolami M, Bozec L, Mills K, Gissen P. Banushi B, et al. Among authors: smith h. Nat Commun. 2016 Jul 20;7:12111. doi: 10.1038/ncomms12111. Nat Commun. 2016. PMID: 27435297 Free PMC article.
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA. Stödberg T, et al. Among authors: smith h. Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038. Nat Commun. 2015. PMID: 26333769 Free PMC article.
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.
Genomic sequencing research in pediatric cancer care: Decision-making, attitudes, and perceived utility among adolescents and young adults and their parents.
Gutierrez AM, Robinson JO, Smith HS, Desrosiers LR, Scollon SR, Canfield I, Hsu RL, Schneider NM, Parsons DW, Plon SE, Allen-Rhoades W, Majumder MA, Malek J, McGuire AL. Gutierrez AM, et al. Among authors: smith hs. Genet Med. 2024 May 17:101168. doi: 10.1016/j.gim.2024.101168. Online ahead of print. Genet Med. 2024. PMID: 38767058
7,739 results