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Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Mark PR, Murray SA, Yang T, Eby A, Lai A, Lu D, Zieba J, Rajasekaran S, VanSickle EA, Rossetti LZ, Guidugli L, Watkins K, Wright MS, Bupp CP, Prokop JW. Mark PR, et al. Among authors: bupp cp. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006169. doi: 10.1101/mcs.a006169. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307211 Free PMC article.
Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19.
Prokop JW, Shankar R, Gupta R, Leimanis ML, Nedveck D, Uhl K, Chen B, Hartog NL, Van Veen J, Sisco JS, Sirpilla O, Lydic T, Boville B, Hernandez A, Braunreiter C, Kuk CC, Singh V, Mills J, Wegener M, Adams M, Rhodes M, Bachmann AS, Pan W, Byrne-Steele ML, Smith DC, Depinet M, Brown BE, Eisenhower M, Han J, Haw M, Madura C, Sanfilippo DJ, Seaver LH, Bupp C, Rajasekaran S. Prokop JW, et al. Physiol Genomics. 2020 Jun 1;52(6):255-268. doi: 10.1152/physiolgenomics.00045.2020. Epub 2020 May 21. Physiol Genomics. 2020. PMID: 32437232 Free PMC article.
SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics.
Gupta R, Charron J, Stenger CL, Painter J, Steward H, Cook TW, Faber W, Frisch A, Lind E, Bauss J, Li X, Sirpilla O, Soehnlen X, Underwood A, Hinds D, Morris M, Lamb N, Carcillo JA, Bupp C, Uhal BD, Rajasekaran S, Prokop JW. Gupta R, et al. J Biol Chem. 2020 Aug 14;295(33):11742-11753. doi: 10.1074/jbc.RA120.014873. Epub 2020 Jun 25. J Biol Chem. 2020. PMID: 32587094 Free PMC article.
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M, Lawlor JMJ, Li X, Schuen JN, Millard SL, Zhang X, Buck L, Grysko B, Uhl KL, Hinds D, Stenger CL, Morris M, Lamb N, Levy H, Bupp C, Prokop JW. Sanders M, et al. Hum Genet. 2021 Mar;140(3):423-439. doi: 10.1007/s00439-020-02211-w. Epub 2020 Jul 30. Hum Genet. 2021. PMID: 32734384 Free PMC article.
NAA10 variant in 38-week-gestation male patient: a case study.
Afrin A, Prokop JW, Underwood A, Uhl KL, VanSickle EA, Baruwal R, Wajda M, Rajasekaran S, Bupp C. Afrin A, et al. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005868. doi: 10.1101/mcs.a005868. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335012 Free PMC article.
59 results