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Page 1
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer.
Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W. Nissim S, et al. Among authors: prokop jw. Nat Genet. 2019 Sep;51(9):1308-1314. doi: 10.1038/s41588-019-0475-y. Epub 2019 Aug 12. Nat Genet. 2019. PMID: 31406347 Free PMC article.
The Tumor-suppressive Small GTPase DiRas1 Binds the Noncanonical Guanine Nucleotide Exchange Factor SmgGDS and Antagonizes SmgGDS Interactions with Oncogenic Small GTPases.
Bergom C, Hauser AD, Rymaszewski A, Gonyo P, Prokop JW, Jennings BC, Lawton AJ, Frei A, Lorimer EL, Aguilera-Barrantes I, Mackinnon AC, Noon K, Fierke CA, Williams CL. Bergom C, et al. Among authors: prokop jw. J Biol Chem. 2016 Mar 18;291(12):6534-45. doi: 10.1074/jbc.M115.696831. Epub 2016 Jan 26. J Biol Chem. 2016. PMID: 26814130 Free PMC article.
The tumor-suppressive small GTPase DiRas1 binds the noncanonical guanine nucleotide exchange factor SmgGDS and antagonizes SmgGDS interactions with oncogenic small GTPases.
Bergom C, Hauser AD, Rymaszewski A, Gonyo P, Prokop JW, Jennings BC, Lawton AJ, Frei A, Lorimer EL, Aguilera-Barrantes I, Mackinnon AC Jr, Noon K, Fierke CA, Williams CL. Bergom C, et al. Among authors: prokop jw. J Biol Chem. 2016 May 13;291(20):10948. doi: 10.1074/jbc.A115.696831. J Biol Chem. 2016. PMID: 27197236 Free PMC article. No abstract available.
The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing.
Das AS, Sherry EC, Vaughan RM, Henderson ML, Zieba J, Uhl KL, Koehn O, Bupp CP, Rajasekaran S, Li X, Chhetri SB, Nissim S, Williams CL, Prokop JW. Das AS, et al. Among authors: prokop jw. Front Cell Dev Biol. 2022 Nov 17;10:1033695. doi: 10.3389/fcell.2022.1033695. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36467401 Free PMC article.
Occupancy maps of 208 chromatin-associated proteins in one human cell type.
Partridge EC, Chhetri SB, Prokop JW, Ramaker RC, Jansen CS, Goh ST, Mackiewicz M, Newberry KM, Brandsmeier LA, Meadows SK, Messer CL, Hardigan AA, Coppola CJ, Dean EC, Jiang S, Savic D, Mortazavi A, Wold BJ, Myers RM, Mendenhall EM. Partridge EC, et al. Among authors: prokop jw. Nature. 2020 Jul;583(7818):720-728. doi: 10.1038/s41586-020-2023-4. Epub 2020 Jul 29. Nature. 2020. PMID: 32728244 Free PMC article.
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH. Schilter KF, et al. Among authors: prokop jw. Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7. Am J Med Genet A. 2017. PMID: 28686325 Free PMC article.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Among authors: prokop jw. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Hiatt SM, Neu MB, Ramaker RC, Hardigan AA, Prokop JW, Hancarova M, Prchalova D, Havlovicova M, Prchal J, Stranecky V, Yim DKC, Powis Z, Keren B, Nava C, Mignot C, Rio M, Revah-Politi A, Hemati P, Stong N, Iglesias AD, Suchy SF, Willaert R, Wentzensen IM, Wheeler PG, Brick L, Kozenko M, Hurst ACE, Wheless JW, Lacassie Y, Myers RM, Barsh GS, Sedlacek Z, Cooper GM. Hiatt SM, et al. Among authors: prokop jw. PLoS Genet. 2018 Nov 30;14(11):e1007671. doi: 10.1371/journal.pgen.1007671. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30500825 Free PMC article.
Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD.
Prokop JW, Yeo NC, Ottmann C, Chhetri SB, Florus KL, Ross EJ, Sosonkina N, Link BA, Freedman BI, Coppola CJ, McDermott-Roe C, Leysen S, Milroy LG, Meijer FA, Geurts AM, Rauscher FJ 3rd, Ramaker R, Flister MJ, Jacob HJ, Mendenhall EM, Lazar J. Prokop JW, et al. J Am Soc Nephrol. 2018 May;29(5):1525-1535. doi: 10.1681/ASN.2017080856. Epub 2018 Feb 23. J Am Soc Nephrol. 2018. PMID: 29476007 Free PMC article.
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