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Page 1
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: markianos k. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Ahmed MY, et al. Among authors: markianos k. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. Neurology. 2015. PMID: 25832664 Free PMC article.
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Joshi M, et al. Among authors: markianos k. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148589 Free PMC article.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD. Campagna DR, et al. Among authors: markianos k. Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Am J Hematol. 2014. PMID: 24166784 Free PMC article.
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Schmitz-Abe K, et al. Among authors: markianos k. Sci Rep. 2020 Aug 20;10(1):14045. doi: 10.1038/s41598-020-70656-0. Sci Rep. 2020. PMID: 32820185 Free PMC article.
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Nakayama T, Al-Maawali A, El-Quessny M, Rajab A, Khalil S, Stoler JM, Tan WH, Nasir R, Schmitz-Abe K, Hill RS, Partlow JN, Al-Saffar M, Servattalab S, LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G, Barkovich AJ, Markianos K, Poduri A, Mochida GH. Nakayama T, et al. Among authors: markianos k. Am J Hum Genet. 2015 May 7;96(5):709-19. doi: 10.1016/j.ajhg.2015.03.003. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865492 Free PMC article.
52 results