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519 results

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Page 1
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. Among authors: slater d. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A, March ME, Cardinale CJ, Kim SE, Merves J, Whitworth H, Raffini L, Larosa C, Copelovitch L, Hou C, Slater D, Vaccaro C, Watson D, Zackai EH, Billheimer J, Hakonarson H. Strong A, et al. Among authors: slater d. Am J Med Genet A. 2022 Feb;188(2):463-472. doi: 10.1002/ajmg.a.62537. Epub 2021 Oct 15. Am J Med Genet A. 2022. PMID: 34655156 Free PMC article.
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H. Strong A, et al. Among authors: slater d. Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 7. Am J Med Genet A. 2021. PMID: 33960657 Free PMC article.
MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site.
Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA. Slater DJ, et al. Oncogene. 2002 Jul 11;21(30):4706-14. doi: 10.1038/sj.onc.1205572. Oncogene. 2002. PMID: 12096348
Reciprocal DNA topoisomerase II cleavage events at 5'-TATTA-3' sequences in MLL and AF-9 create homologous single-stranded overhangs that anneal to form der(11) and der(9) genomic breakpoint junctions in treatment-related AML without further processing.
Whitmarsh RJ, Saginario C, Zhuo Y, Hilgenfeld E, Rappaport EF, Megonigal MD, Carroll M, Liu M, Osheroff N, Cheung NK, Slater DJ, Ried T, Knutsen T, Blair IA, Felix CA. Whitmarsh RJ, et al. Among authors: slater dj. Oncogene. 2003 Nov 20;22(52):8448-59. doi: 10.1038/sj.onc.1207052. Oncogene. 2003. PMID: 14627986
519 results