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myophosphatase deficiency syndrome相关文献:
PPA1 promotes adipogenesis by regulating the stability of C/EBPs.
Wu Y, Sun Y, Song Y, Wang J, Han Y, Yang N, Lin H, Yin Y, Han X.
Cell Death Differ. 2024 Aug;31(8):1044-1056. doi: 10.1038/s41418-024-01309-2. Epub 2024 May 18.
PMID:38762596
Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.
Ralph D, van de Wetering K, Uitto J, Li Q.
Am J Pathol. 2022 May;192(5):762-770. doi: 10.1016/j.ajpath.2022.01.012. Epub 2022 Feb 16.
PMID:35182493
Clinical presentation and burden of ENPP1 deficiency in adults.
Seefried L.
Arch Pediatr. 2024 Sep;31(4S1):4S33-4S36. doi: 10.1016/S0929-693X(24)00155-6.
PMID:39343472
Binary Function of ARL3-GTP Revealed by Gene Knockouts.
Hanke-Gogokhia C, Frederick JM, Zhang H, Baehr W.
Adv Exp Med Biol. 2018;1074:317-325. doi: 10.1007/978-3-319-75402-4_39.
PMID:29721959
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR.
PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar.
PMID:30856165
Identification of Genes Whose Expression Profile Is Associated with Non-Progression towards AIDS Using eQTLs.
Spadoni JL, Rucart P, Le Clerc S, van Manen D, Coulonges C, Ulveling D, Laville V, Labib T, Taing L, Delaneau O, Montes M, Schuitemaker H, Noirel J, Zagury JF.
PLoS One. 2015 Sep 14;10(9):e0136989. doi: 10.1371/journal.pone.0136989. eCollection 2015.
PMID:26367535
ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome.
Villa-Bellosta R.
Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23698-23704. doi: 10.1073/pnas.1910972116. Epub 2019 Nov 5.
PMID:31690656
Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.
Devriese M, Legrand A, Courtois MC, Jeunemaitre X, Albuisson J.
Vasc Med. 2019 Oct;24(5):461-464. doi: 10.1177/1358863X19853360. Epub 2019 Jun 4.
PMID:31164056
Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells.
Philbrook C, Fritz E, Weiher H.
Exp Gerontol. 2005 Aug-Sep;40(8-9):671-8. doi: 10.1016/j.exger.2005.06.008.
PMID:16087305
Age-related alterations in the expression of MTH2 in the hippocampus of the SAMP8 mouse with learning and memory deterioration.
Zheng JD, Hei AL, Zuo PP, Dong YL, Song XN, Takagi Y, Sekiguchi M, Cai JP.
J Neurol Sci. 2009 Dec 15;287(1-2):188-96. doi: 10.1016/j.jns.2009.07.027. Epub 2009 Sep 6.
PMID:19735921
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