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SCCRO promotes glioma formation and malignant progression in mice.
Broderick SR, Golas BJ, Pham D, Towe CW, Talbot SG, Kaufman A, Bains S, Huryn LA, Yonekawa Y, Carlson D, Hambardzumyan D, Ramanathan Y, Singh B. Broderick SR, et al. Among authors: huryn la. Neoplasia. 2010 Jun;12(6):476-84. doi: 10.1593/neo.10202. Neoplasia. 2010. PMID: 20563250 Free PMC article.
Mouse DCUN1D1 (SCCRO) is required for spermatogenetic individualization.
Huang G, Kaufman AJ, Ryan RJH, Romin Y, Huryn L, Bains S, Manova-Todorova K, Morris PL, Hunnicutt GR, Adelman CA, Petrini JHJ, Ramanathan Y, Singh B. Huang G, et al. PLoS One. 2019 Jan 17;14(1):e0209995. doi: 10.1371/journal.pone.0209995. eCollection 2019. PLoS One. 2019. PMID: 30653527 Free PMC article.
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Stephen J, et al. PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017. PLoS One. 2017. PMID: 28296950 Free PMC article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Reply.
Turriff AE, Cukras CA, Brooks BP, Huryn LA. Turriff AE, et al. Among authors: huryn la. J AAPOS. 2020 Feb;24(1):58-59. doi: 10.1016/j.jaapos.2019.10.009. Epub 2020 Jan 11. J AAPOS. 2020. PMID: 31935451 Free PMC article. No abstract available.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
67 results