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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 2
2004 6
2005 2
2006 5
2007 3
2009 1
2010 6
2011 6
2012 1
2013 5
2014 8
2015 5
2016 3
2017 2
2018 1
2019 3
2020 2
2021 1
2022 6
2023 4
2024 3

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73 results

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Page 1
Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.
Li J, Moretti F, Hidvegi T, Sviben S, Fitzpatrick JAJ, Sundaramoorthi H, Pak SC, Silverman GA, Knapp B, Filipuzzi I, Alford J, Reece-Hoyes J, Nigsch F, Murphy LO, Nyfeler B, Perlmutter DH. Li J, et al. Among authors: silverman ga. Cell Mol Gastroenterol Hepatol. 2024 Feb 7;17(6):1007-1024. doi: 10.1016/j.jcmgh.2024.02.006. Online ahead of print. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38336172 Free PMC article.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. Marom R, et al. Among authors: silverman ga. PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov. PLoS Genet. 2023. PMID: 37934770 Free PMC article.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: silverman ga. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS. Oh YM, et al. Among authors: silverman ga. Nat Neurosci. 2022 Nov;25(11):1420-1433. doi: 10.1038/s41593-022-01185-4. Epub 2022 Oct 27. Nat Neurosci. 2022. PMID: 36303071 Free PMC article.
Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.
Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA; Undiagnosed Diseases Network; Schedl T, Pak SC. Fielder SM, et al. Among authors: silverman ga. Mol Genet Metab. 2022 May;136(1):65-73. doi: 10.1016/j.ymgme.2022.03.007. Epub 2022 Mar 22. Mol Genet Metab. 2022. PMID: 35361529 Free PMC article.
Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.
Rudnick DA, Huang J, Hidvegi T, Chu AS, Hale P, Munanairi A, Dietzen DJ, Cliften PF, Tycksen E, Lutkewitte AJ, Finck BN, Pak SC, Silverman GA, Perlmutter DH. Rudnick DA, et al. Among authors: silverman ga. Gastroenterology. 2022 Jul;163(1):270-284. doi: 10.1053/j.gastro.2022.03.010. Epub 2022 Mar 15. Gastroenterology. 2022. PMID: 35301011 Free PMC article.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. Huang H, et al. Among authors: silverman ga. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119. Proc Natl Acad Sci U S A. 2022. PMID: 35121658 Free PMC article.
73 results