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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.
Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. ...While there is considerable overlap between AKS and Kabuki syndrome (KS), these additional patients dem …
Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated wit …
Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.
Okamoto N. Okamoto N. Am J Med Genet A. 2019 May;179(5):822-826. doi: 10.1002/ajmg.a.61079. Epub 2019 Feb 21. Am J Med Genet A. 2019. PMID: 30793470 Review.
A new patient with Okamoto syndrome visited our hospital. We noticed that the patient had features overlapping with Au-Kline syndrome. We studied the HNRNPK gene by Sanger sequencing, and identified a novel splicing variant. We suggest that Okamoto …
A new patient with Okamoto syndrome visited our hospital. We noticed that the patient had features overlapping with Au-Klin …
The emerging roles of hnRNPK.
Wang Z, Qiu H, He J, Liu L, Xue W, Fox A, Tickner J, Xu J. Wang Z, et al. J Cell Physiol. 2020 Mar;235(3):1995-2008. doi: 10.1002/jcp.29186. Epub 2019 Sep 19. J Cell Physiol. 2020. PMID: 31538344 Review.
Interestingly, hnRNPK has been found to associate with the Kabuki-like syndrome and Au-Kline syndrome with prominent skeletal abnormalities. ...
Interestingly, hnRNPK has been found to associate with the Kabuki-like syndrome and Au-Kline syndrome with promi …
Connecting Versatile lncRNAs with Heterogeneous Nuclear Ribonucleoprotein K and Pathogenic Disorders.
Zhu S, Wang Z, Xu J. Zhu S, et al. Trends Biochem Sci. 2019 Sep;44(9):733-736. doi: 10.1016/j.tibs.2019.06.001. Epub 2019 Jul 3. Trends Biochem Sci. 2019. PMID: 31279651 Review.
Recently, hnRNPK has been shown to interact with SINE-derived nuclear RNA localization (SIRLOIN)-containing RNAs, and orchestrate nuclear enrichment and cellular functions of long noncoding RNAs (lncRNAs). hnRNPK-lncRNAs interaction is potentially implicated in various pathogenic …
Recently, hnRNPK has been shown to interact with SINE-derived nuclear RNA localization (SIRLOIN)-containing RNAs, and orchestrate nuclear en …