Video Upload Options

References

1. Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, FanningE, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, ParboosinghJS, Kline AD, Innes AM; Care for Rare Canada Consortium. Phenotypic spectrum ofAu-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2.
2. Au PYB, Innes AM, Kline AD. Au-Kline Syndrome. 2019 Apr 18. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK540283/
3. Bomsztyk K, Denisenko O, Ostrowski J. hnRNP K: one protein multiple processes.Bioessays. 2004 Jun;26(6):629-38. Review.
4. Folci A, Mapelli L, Sassone J, Prestori F, D'Angelo E, Bassani S, Passafaro M.Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. J Neurosci.2014 Jul 2;34(27):9088-95. doi: 10.1523/JNEUROSCI.0303-14.2014.
5. Gallardo M, Lee HJ, Zhang X, Bueso-Ramos C, Pageon LR, McArthur M, Multani A, Nazha A, Manshouri T, Parker-Thornburg J, Rapado I, Quintas-Cardama A, KornblauSM, Martinez-Lopez J, Post SM. hnRNP K Is a Haploinsufficient Tumor Suppressorthat Regulates Proliferation and Differentiation Programs in HematologicMalignancies. Cancer Cell. 2015 Oct 12;28(4):486-499. doi:10.1016/j.ccell.2015.09.001.
6. Hutchins EJ, Szaro BG. c-Jun N-terminal kinase phosphorylation ofheterogeneous nuclear ribonucleoprotein K regulates vertebrate axon outgrowth viaa posttranscriptional mechanism. J Neurosci. 2013 Sep 11;33(37):14666-80. doi:10.1523/JNEUROSCI.4821-12.2013.
7. Naarmann-de Vries IS, Sackmann Y, Klein F, Ostareck-Lederer A, Ostareck DH,Jost E, Ehninger G, Brümmendorf TH, Marx G, Röllig C, Thiede C, Crysandt M.Characterization of acute myeloid leukemia with del(9q) - Impact of the genes in the minimally deleted region. Leuk Res. 2019 Jan;76:15-23. doi:10.1016/j.leukres.2018.11.007.
8. Okamoto N. Okamoto syndrome has features overlapping with Au-Kline syndromeand is caused by HNRNPK mutation. Am J Med Genet A. 2019 May;179(5):822-826. doi:10.1002/ajmg.a.61079.
9. Sweetser DA, Peniket AJ, Haaland C, Blomberg AA, Zhang Y, Zaidi ST, Dayyani F,Zhao Z, Heerema NA, Boultwood J, Dewald GW, Paietta E, Slovak ML, Willman CL,Wainscoat JS, Bernstein ID, Daly SB. Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acutemyeloid leukemia. Genes Chromosomes Cancer. 2005 Nov;44(3):279-91.
10. Xu Y, Wu W, Han Q, Wang Y, Li C, Zhang P, Xu H. New Insights into theInterplay between Non-Coding RNAs and RNA-Binding Protein HnRNPK in RegulatingCellular Functions. Cells. 2019 Jan 17;8(1). pii: E62. doi: 10.3390/cells8010062.Review.