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97 results

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Page 1
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342 Free PMC article.
Here, we describe an additional condition in the HJS spectrum in 26 individuals with variants in PPP2R5C, encoding the regulatory B56gamma subunit. Most changes were de novo and of the missense type. ...Catalytic activity of the phosphatase was variably affected by the var …
Here, we describe an additional condition in the HJS spectrum in 26 individuals with variants in PPP2R5C, encoding the regulatory B56 …
Houge-Janssens syndrome.
Houge GD, Houge SD, Hsieh TC, Verbinnen I, Janssens V. Houge GD, et al. Eur J Hum Genet. 2025 Oct;33(10):1228-1239. doi: 10.1038/s41431-025-01901-1. Epub 2025 Jun 24. Eur J Hum Genet. 2025. PMID: 40555839 Review.
So far, dominant pathogenic variants in at least two B subunits (PPP2R5D in HJS type 1 and PPP2R5C in HJS type 4), the major scaffolding subunit (PPP2R1A in HJS type 2) and the major catalytic subunit (PPP2CA in HJS type 3) can cause Houge-Janssens syndrome. ...
So far, dominant pathogenic variants in at least two B subunits (PPP2R5D in HJS type 1 and PPP2R5C in HJS type 4), the major scaffold …
LincR-PPP2R5C Deficiency Alleviates Airway Remodeling by Inhibiting Epithelial-Mesenchymal Transition Through the PP2A/TGF-beta1 Signaling Pathway in Chronic Experimental Allergic Asthma.
Yuan Q, Jia X, Wang M, Chen Z, Xu T, Zhang X, Liu Y, Wang Z, Yang C, Zhang M, Zhang W, Huang M, Ji N. Yuan Q, et al. Allergy Asthma Immunol Res. 2024 Jul;16(4):422-433. doi: 10.4168/aair.2024.16.4.422. Allergy Asthma Immunol Res. 2024. PMID: 39155740 Free PMC article.
Moreover, airway remodeling and EMT were reduced in lung tissues of lincR-PPP2R5C KO mice. HDM extract induced EMT in airway epithelial cells, which was decreased following lincR-PPP2R5C KO. ...Thus, lncRNAs, i.e., lincR-PPP2R5C, may be potential targets to p …
Moreover, airway remodeling and EMT were reduced in lung tissues of lincR-PPP2R5C KO mice. HDM extract induced EMT in airway epitheli …
Neuronal PPP2R5C in plasma is a potential biomarker for early diagnosis of Alzheimer's disease.
Luo S, Liu H, Xiao T, Li Y, Liu X, Xiao X, Liao X, Liu Y, Zhou Y, Wang JL, Guo J, Tu T, Yan X, Tang B, Zhang Z, Jiao B, Shen L. Luo S, et al. Cell Rep Med. 2026 Mar 17;7(3):102631. doi: 10.1016/j.xcrm.2026.102631. Epub 2026 Feb 19. Cell Rep Med. 2026. PMID: 41720088 Free PMC article.
Two independent cohorts confirm the early and differential diagnostic value of plasma PPP2R5C. Immunohistochemistry of Tau Braak-staged brains reveals PPP2R5C reduction preceding Tau hyperphosphorylation. ...Our findings suggest that plasma PPP2R5C has the po …
Two independent cohorts confirm the early and differential diagnostic value of plasma PPP2R5C. Immunohistochemistry of Tau Braak-stag …
LincR-PPP2R5C Promotes Th2 Cell Differentiation Through PPP2R5C/PP2A by Forming an RNA-DNA Triplex in Allergic Asthma.
Ji N, Chen Z, Wang Z, Sun W, Yuan Q, Zhang X, Jia X, Wu J, Jiang J, Song M, Xu T, Liu Y, Ma Q, Sun Z, Bao Y, Zhang M, Huang M. Ji N, et al. Allergy Asthma Immunol Res. 2024 Jan;16(1):71-90. doi: 10.4168/aair.2024.16.1.71. Allergy Asthma Immunol Res. 2024. PMID: 38262392 Free PMC article.
An ovalbumin-induced acute asthma model in knockout (KO) mice (LincR-PPP2R5C KO, CD4 conditional LincR-PPP2R5C KO) was established to explore the roles of LincR-PPP2R5C in Th2 differentiation. ...The formation of an RNA-DNA triplex between LincR-PPP2R5C …
An ovalbumin-induced acute asthma model in knockout (KO) mice (LincR-PPP2R5C KO, CD4 conditional LincR-PPP2R5C KO) was establi …
LincR-PPP2R5C regulates IL-1beta ubiquitination in macrophages and promotes airway inflammation and emphysema in a murine model of COPD.
Wang M, Zhu M, Jia X, Wu J, Yuan Q, Xu T, Wang Z, Huang M, Ji N, Zhang M. Wang M, et al. Int Immunopharmacol. 2024 Sep 30;139:112680. doi: 10.1016/j.intimp.2024.112680. Epub 2024 Jul 16. Int Immunopharmacol. 2024. PMID: 39018689
Previously, we explored the role of a new lncRNA, LincR-PPP2R5C, in regulating Th2 cells in asthma. Here, we established a murine model of COPD and explored the roles and mechanisms by which LincR-PPP2R5C regulates IL-1beta in macrophages. LincR-PPP2R5C was h …
Previously, we explored the role of a new lncRNA, LincR-PPP2R5C, in regulating Th2 cells in asthma. Here, we established a murine mod …
LincR-PPP2R5C deficiency enhancing the fungicidal activity of neutrophils in pulmonary cryptococcosis is linked to the upregulation of IL-4.
Yang C, Gong Y, Liu S, Sun C, Wang T, Chen X, Liu W, Zhang X, Yang Y, Zhang M. Yang C, et al. mBio. 2024 Oct 16;15(10):e0213024. doi: 10.1128/mbio.02130-24. Epub 2024 Sep 17. mBio. 2024. PMID: 39287443 Free PMC article.
In the present study, we aimed to explore the roles of LincR-PPP2R5C in pulmonary cryptococcosis. We observed an increase in the level of LincR-PPP2R5C in the lung tissues of C57BL/6J mice after tracheal infection with C. neoformans. Subsequently, we intratracheally …
In the present study, we aimed to explore the roles of LincR-PPP2R5C in pulmonary cryptococcosis. We observed an increase in the leve …
Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening.
Li B, Liu S, Gao Y, Zheng L, Lu Y. Li B, et al. J Cancer Res Clin Oncol. 2023 Sep;149(12):10241-10253. doi: 10.1007/s00432-023-04943-4. Epub 2023 Jun 3. J Cancer Res Clin Oncol. 2023. PMID: 37270460 Free PMC article.
RESULTS: The sensitivity of combined detection of SDC2/ADHFE1/PPP2R5C methylation in predicting CRC (0-IV) was 84.8%, the specificity was 98.0%, and the AUC was 0.930 (95% CI 0.889-0.970). ...CONCLUSION: The results of this study verified that the methylation levels of SDC …
RESULTS: The sensitivity of combined detection of SDC2/ADHFE1/PPP2R5C methylation in predicting CRC (0-IV) was 84.8%, the specificity …
PPP2R5C Couples Hepatic Glucose and Lipid Homeostasis.
Cheng YS, Seibert O, Klöting N, Dietrich A, Straßburger K, Fernández-Veledo S, Vendrell JJ, Zorzano A, Blüher M, Herzig S, Berriel Diaz M, Teleman AA. Cheng YS, et al. PLoS Genet. 2015 Oct 6;11(10):e1005561. doi: 10.1371/journal.pgen.1005561. eCollection 2015 Oct. PLoS Genet. 2015. PMID: 26440364 Free PMC article.
Inactivation of PPP2R5C in isolated hepatocytes leads to increased glucose uptake and increased de novo lipogenesis. ...We show that modulation of PPP2R5C levels leads to alterations in AMPK and SREBP-1 activity. We find that hepatic levels of PPP2R5C are ele …
Inactivation of PPP2R5C in isolated hepatocytes leads to increased glucose uptake and increased de novo lipogenesis. ...We show that …
[Structural feature and biological function of PPP2R5C gene].
Li YQ, Zhou YB, Yang LJ. Li YQ, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2009 Oct;17(5):1127-9. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2009. PMID: 19840435 Chinese.
Recently, it was characterized that the alteration of expression pattern of PPP2R5C is associated with cell malignant transformation, thus PPP2R5C was thought as a marker for progressive disease in B-CLL. In this article the gene structure and biological function of …
Recently, it was characterized that the alteration of expression pattern of PPP2R5C is associated with cell malignant transformation, …
97 results