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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2001 1
2002 1
2003 2
2004 1
2005 6
2006 6
2007 10
2008 7
2009 10
2010 10
2011 11
2012 10
2013 12
2014 13
2015 14
2016 12
2017 20
2018 15
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2020 11
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2022 11
2023 3
2024 3

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189 results

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Page 1
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Robinson HK, Zaklyazminskaya E, Povolotskaya I, Surikova Y, Mallin L, Armstrong C, Mabin D, Benke PJ, Chrisant MR, McDonald M, Marboe CC, Agre KE, Deyle DR, McWalter K, Douglas G, Balashova MS, Kaimonov V, Shirokova N, Pomerantseva E, Turner CL, Ellard S. Robinson HK, et al. Clin Genet. 2020 Oct;98(4):331-340. doi: 10.1111/cge.13812. Epub 2020 Aug 2. Clin Genet. 2020. PMID: 32666529
PPP1R13L encodes inhibitor of apoptosis-stimulating protein of p53 protein (iASPP). ...The identification here of a further five families now provides sufficient evidence to support a robust gene-disease association between PPP1R13L and severe paediatric DCM. The
PPP1R13L encodes inhibitor of apoptosis-stimulating protein of p53 protein (iASPP). ...The identification here of a further five fami
Novel PPP1R13L variant expands the phenotype of a rare cardiocutaneous syndrome.
Henry A, Bernhardt I, Hayes I, Mitchelson B. Henry A, et al. Clin Genet. 2022 Nov;102(5):461-462. doi: 10.1111/cge.14199. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35924320
PPP1R13L-associated cardiocutaneous syndrome is an autosomal recessive condition that presents with life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. ...
PPP1R13L-associated cardiocutaneous syndrome is an autosomal recessive condition that presents with life-threatening dilated cardiomy
Transcription factor SP1 and oncoprotein PPP1R13L regulate nicotine-induced epithelial-mesenchymal transition in lung adenocarcinoma via a feedback loop.
Zhang H, Zhang G, Zhang J, Xiao M, Cui S, Wu S, Jin C, Yang J, Lu X. Zhang H, et al. Biochem Pharmacol. 2022 Dec;206:115344. doi: 10.1016/j.bcp.2022.115344. Epub 2022 Nov 11. Biochem Pharmacol. 2022. PMID: 36372331
Subsequently, the direct inhibition of SP1 by PPP1R13L was demonstrated to be a critical mechanism underlying the involvement of PPP1R13L in the nicotine-induced EMT process. More interestingly, SP1 was further shown to transcriptionally activate PPP1R13L exp …
Subsequently, the direct inhibition of SP1 by PPP1R13L was demonstrated to be a critical mechanism underlying the involvement of P
Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy.
Kalayinia S, Mahdavi M, Houshmand G, Hesami M, Pourirahim M, Maleki M. Kalayinia S, et al. BMC Cardiovasc Disord. 2022 Aug 6;22(1):359. doi: 10.1186/s12872-022-02802-7. BMC Cardiovasc Disord. 2022. PMID: 35933355 Free PMC article.
To our knowledge, this research is the first report of the PPP1R13L c.580C > T variant. The PPP1R13L variant was associated with ACM as confirmed by cardiac magnetic resonance and pathology. Our findings indicate that PPP1R13L should be included in ACM gen …
To our knowledge, this research is the first report of the PPP1R13L c.580C > T variant. The PPP1R13L variant was associated …
Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.
Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O. Falik-Zaccai TC, et al. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression l …
A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infant …
PPP1R13L variant associated with prognosis for patients with rectal cancer.
Chae YS, Kim JG, Kang BW, Lee SJ, Jeon HS, Park JS, Choi GS, Lee WK. Chae YS, et al. J Cancer Res Clin Oncol. 2013 Mar;139(3):465-73. doi: 10.1007/s00432-012-1346-4. Epub 2012 Nov 21. J Cancer Res Clin Oncol. 2013. PMID: 23180017
BACKGROUND: ERCC1, CD3EAP, and PPP1R13L polymorphisms in the chromosomal region 19q13.2-3 have already been shown to have a synergistic effect on apoptosis and DNA repair pathways. ...CONCLUSIONS: The present results suggest that the PPP1R13L rs1970764 variant is a …
BACKGROUND: ERCC1, CD3EAP, and PPP1R13L polymorphisms in the chromosomal region 19q13.2-3 have already been shown to have a synergist …
p53 and PPP1R13L (alias iASPP or RAI) form a feedback loop to regulate genotoxic stress responses.
Laska MJ, Vogel UB, Jensen UB, Nexø BA. Laska MJ, et al. Biochim Biophys Acta. 2010 Dec;1800(12):1231-40. doi: 10.1016/j.bbagen.2010.09.002. Epub 2010 Sep 15. Biochim Biophys Acta. 2010. PMID: 20840860
However, in the non-transformed cells it acts as a tumor suppressor which suggests that the role of PPP1R13L is multifaceted. METHODS: We have used siRNA optimized for inhibition of p53, PPP1R13L, BAX and GADD45 alpha expression and investigated the role of those ge …
However, in the non-transformed cells it acts as a tumor suppressor which suggests that the role of PPP1R13L is multifaceted. METHODS …
Malignant transformation of human bronchial epithelial cells induced by benzo [a] pyrene suggests a negative feedback of TP53 to PPP1R13L via binding a possible enhancer element.
Zhang G, Yu T, Zhang Q, Zhang H, Xiao M, Cui S, Zhao Y, Lu X. Zhang G, et al. Chem Biol Interact. 2021 Nov 1;349:109683. doi: 10.1016/j.cbi.2021.109683. Epub 2021 Oct 2. Chem Biol Interact. 2021. PMID: 34610339
Previous studies have shown that PPP1R13L as an inhibitor of apoptosis protease TP53 can lead to abnormal cell proliferation and carcinogenesis, however, the function of PPP1R13L was complicated and the interaction between TP53 and PPP1R13L needs to be furthe …
Previous studies have shown that PPP1R13L as an inhibitor of apoptosis protease TP53 can lead to abnormal cell proliferation and carc …
189 results