|
1
|
Cañadas V, Vilacosta I, Bruna I and Fuster V: Marfan syndrome. Part 1: Pathophysiology and diagnosis. Nat Rev Cardiol. 7:256–265. 2010.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Romaniello F, Mazzaglia D, Pellegrino A, Grego S, Fiorito R, Ferlosio A, Chiariello L and Orlandi A: Aortopathy in Marfan syndrome: An update. Cardiovasc Pathol. 23:261–266. 2014.PubMed/NCBI View Article : Google Scholar
|
|
3
|
De Paepe A, Devereux RB, Dietz HC, Hennekam RC and Pyeritz RE: Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 62:417–426. 1996.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, et al: The revised ghent nosology for the Marfan syndrome. J Med Genet. 47:476–485. 2010.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Xiong W, Meisinger T, Knispel R, Worth JM and Baxter BT: MMP-2 regulates Erk1/2 phosphorylation and aortic dilatation in Marfan syndrome. Circul Res. 110:e92–e101. 2012.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Chung AW, Au Yeung K, Sandor GG, Judge DP, Dietz HC and van Breemen C: Loss of elastic fiber integrity and reduction of vascular smooth muscle contraction resulting from the upregulated activities of matrix metalloproteinase-2 and -9 in the thoracic aortic aneurysm in Marfan syndrome. Circ Res. 101:512–522. 2007.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Merk DR, Chin JT, Dake BA, Maegdefessel L, Miller MO, Kimura N, Tsao PS, Iosef C, Berry GJ, Mohr FW, et al: MiR-29b participates in early aneurysm development in Marfan syndrome. Circ Res. 110:312–324. 2012.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Nienaber CA, Clough RE, Sakalihasan N, Suzuki T, Gibbs R, Mussa F, Jenkins MP, Thompson MM, Evangelista A, Yeh JS, et al: Aortic dissection. Nat Rev Dis Primers. 2(16053)2016.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Quinn JJ and Chang HY: Unique features of long non-coding RNA biogenesis and function. Nat Rev Genet. 17:47–62. 2016.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Ponting CP, Oliver PL and Reik W: Evolution and functions of long noncoding RNAs. Cell. 136:629–641. 2009.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Milewicz DM, Prakash SK and Ramirez F: Therapeutics targeting drivers of thoracic aortic aneurysms and acute aortic dissections: Insights from predisposing genes and mouse models. Annu Rev Med. 68:51–67. 2017.PubMed/NCBI View Article : Google Scholar
|
|
12
|
David TE, David CM, Manlhiot C, Colman J, Crean AM and Bradley T: Outcomes of aortic valve-sparing operations in Marfan syndrome. J Am Coll Cardiol. 66:1445–1453. 2015.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Yang YG, Li MX, Kou L, Zhou Y, Qin YW, Liu XJ and Chen Z: Long noncoding RNA expression signatures of abdominal aortic aneurysm revealed by microarray. Biomed Environ Sci. 29:713–723. 2016.PubMed/NCBI View Article : Google Scholar
|
|
14
|
He Q, Tan J, Yu B, Shi W and Liang K: Long noncoding RNA HIF1A-AS1A reduces apoptosis of vascular smooth muscle cells: Implications for the pathogenesis of thoracoabdominal aorta aneurysm. Pharmazie. 70:310–315. 2015.PubMed/NCBI
|
|
15
|
Gill AJ, Garza R, Ambegaokar SS, Gelman B and Kolson DL: Heme oxygenase-1 promoter region (GT)n polymorphism associates with increased neuroimmune activation and risk for encephalitis in HIV infection. J Neuroinflammation. 15(70)2018.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Tatusova T, DiCuccio M, Badretdin A, Chetvernin V, Nawrocki EP, Zaslavsky L, Lomsadze A, Pruitt KD, Borodovsky M and Ostell J: NCBI prokaryotic genome annotation pipeline. Nucleic Acids Res. 44:6614–6624. 2016.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM and Haussler D: The human genome browser at UCSC. Genome Res. 12:996–1006. 2002.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Volders PJ, Anckaert J, Verheggen K, Nuytens J, Martens L, Mestdagh P and Vandesompele J: LNCipedia 5: Towards a reference set of human long non-codingRNAs. Nucleic Acids Res. 47:D135–D139. 2019.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Fang S, Zhang L, Guo J, Niu Y, Wu Y, Li H, Zhao L, Li X, Teng X, Sun X, et al: NONCODEV5: A comprehensive annotation database for long non-coding RNAs. Nucleic Acids Res. 46:D308–D314. 2018.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Chen Y, Cunningham F, Rios D, McLaren WM, Smith J, Pritchard B, Spudich GM, Brent S, Kulesha E, Marin-Garcia P, et al: Ensembl variation resources. BMC Genomics. 11(293)2010.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Livak KJ and Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods. 25:402–408. 2001.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Cook JR, Carta L, Bénard L, Chemaly ER, Chiu E, Rao SK, Hampton TG, Yurchenco P, GenTAC Registry Consortium Costa KD, et al: Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome. J Clin Invest. 124:1329–1339. 2014.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Evans JR, Feng FY and Chinnaiyan AM: The bright side of dark matter: lncRNAs in cancer. J Clin Invest. 126:2775–2782. 2016.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Perrucci GL, Rurali E, Gowran A, Pini A, Antona C, Chiesa R, Pompilio G and Nigro P: Vascular smooth muscle cells in Marfan syndrome aneurysm: Thebroken bricks in the aortic wall. Cell Mol Life Sci. 74:267–277. 2017.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Jensen SA and Handford PA: New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies. Biochem J. 473:827–838. 2016.PubMed/NCBI View Article : Google Scholar
|
|
26
|
El-Hamamsy I and Yacoub MH: Cellular and molecular mechanisms of thoracic aortic aneurysms. Nat Rev Cardiol. 6:771–786. 2009.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Marshall LM, Carlson EJ, O'Malley J, Snyder CK, Charbonneau NL, Hayflick SJ, Coselli JS, Lemaire SA and Sakai LY: Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. Circ Res. 113:1159–1168. 2013.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Pilecki B, Holm AT, Schlosser A, Moeller JB, Wohl AP, Zuk AV, Heumüller SE, Wallis R, Moestrup SK, Sengle G, et al: Characterization of microfibrillar-associated protein 4 (MFAP4) as a tropoelastin- and fibrillin-binding protein involved in elastic fiber formation. J Biol Chem. 291:1103–1114. 2016.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Padhy B, Kapuganti RS, Hayat B, Mohanty PP and Alone DP: De novo variants in an extracellular matrix protein coding gene, fibulin-5 (FBLN5) are associated with pseudoexfoliation. Eur J Hum Genet. 27:1858–1866. 2019.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Van Wijk XM, Döhrmann S, Hallström BM, Li S, Voldborg BG, Meng BX, McKee KK, van Kuppevelt TH, Yurchenco PD, Palsson BO, et al: Whole-Genome sequencing of invasion-resistant cells identifies laminin α2 as a host factor for bacterial invasion. mBio. 8:e02128–e02116. 2017.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Chen WY, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M and Merke DP: Ehlers-Danlos syndrome caused by biallelic TNXB variants in patients with congenital adrenal hyperplasia. Hum Mutat. 37:893–897. 2016.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Klaffky E, Williams R, Yao CC, Ziober B, Kramer R and Sutherland A: Trophoblast-Specific expression and function of the integrin alpha 7 subunit in the peri-implantation mouse embryo. Dev Biol. 239:161–175. 2001.PubMed/NCBI View Article : Google Scholar
|
|
33
|
He R, Guo DC, Sun W, Papke CL, Duraisamy S, Estrera AL, Safi HJ, Ahn C, Buja LM, Arnett FC, et al: Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. J Thorac Cardiovasc Surg. 136:922–929. 2008.PubMed/NCBI View Article : Google Scholar
|
|
34
|
He R, Guo DC, Estrera AL, Safi HJ, Huynh TT, Yin Z, Cao SN, Lin J, Kurian T, Buja LM, et al: Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections. J Thorac Cardiovasc Surg. 131:671–678. 2006.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Radonic T, de Witte P, Groenink M, de Waard V, Lutter R, van Eijk M, Jansen M, Timmermans J, Kempers M, Scholte AJ, et al: Inflammation aggravates disease severity in Marfan syndrome patients. PLoS One. 7(e32963)2012.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Ju X, Ijaz T, Sun H, Lejeune W, Vargas G, Shilagard T, Recinos A III, Milewicz DM, Brasier AR and Tilton RG: IL-6 regulates extracellular matrix remodeling associated with aortic dilation in a fibrillin-1 hypomorphic mgR/mgR mouse model of severe Marfan syndrome. J Am Heart Assoc. 3(e000476)2014.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Kim EK and Choi EJ: Pathological roles of MAPK signaling pathways in human diseases. Biochim Biophys Acta. 1802:396–405. 2010.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Carta L, Smaldone S, Zilberberg L, Loch D, Dietz HC, Rifkin DB and Ramirez F: P38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice. J Biol Chem. 284:5630–5636. 2009.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Mercer TR, Dinger ME and Mattick JS: Long non-coding RNAs: Insights into functions. Nat Rev Genet. 10:155–159. 2009.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Lee HJ, Gopalappa R, Sunwoo H, Choi SW, Ramakrishna S, Lee JT, Kim HH and Nam JW: En bloc and segmental deletions of human XIST reveal X chromosome inactivation-involving RNA elements. Nucleic Acids Res. 7:3875–3887. 2019.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Huang YS, Chang CC, Lee SS, Jou YS and Shih HM: Xist reduction in breast cancer upregulates AKT phosphorylation via HDAC3-mediated repression of PHLPP1 expression. Oncotarget. 7:43256–43266. 2016.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Huang KC, Rao PH, Lau CC, Heard E, Ng SK, Brown C, Mok SC, Berkowitz RS and Ng SW: Relationship of XIST expression and responses of ovarian cancer to chemotherapy. Mol Cancer Ther. 1:769–776. 2002.PubMed/NCBI
|
|
43
|
Wang H, Shen Q, Zhang X, Yang C, Cui S, Sun Y, Wang L, Fan X and Xu S: The long non-coding RNA XIST controls non-small cell lung cancer proliferation and invasion by modulating miR-186-5p. Cell Physiol Biochem. 41:2221–2229. 2017.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Bonni S, Wang HR, Causing CG, Kavsak P, Stroschein SL, Luo K and Wrana JL: TGF-Beta induces assembly of a smad2-smurf2 ubiquitin ligase complex that targets SnoN for degradation. Nat Cell Biol. 3:587–595. 2001.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Holm TM, Habashi JP, Doyle JJ, Bedja D, Chen Y, van Erp C, Lindsay ME, Kim D, Schoenhoff F, Cohn RD, et al: Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science. 332:358–361. 2011.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Pulugulla SH, Packard TA, Galloway NL, Grimmett ZW, Doitsh G, Adamik J, Galson DL, Greene WC and Auron PE: Distinct mechanisms regulate IL1B gene transcription in lymphoid CD4 T cells and monocytes. Cytokine. 111:373–381. 2018.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Lorenz DR, Misra V and Gabuzda D: Transcriptomic analysis of monocytes from HIV-positive men on antiretroviral therapy reveals effects of tobacco smoking on interferon and stress response systems associated with depressive symptoms. Hum Genomics. 13(59)2019.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Jangalwe S, Kapoor VN, Xu J, Girnius N, Kennedy NJ, Edwards YJK, Welsh RM, Davis RJ and Brehm MA: Cutting edge: Early attrition of memory T cells during inflammation and costimulation blockade is regulated concurrently by proapoptotic proteins fas and bim. Immunol. 202:647–651. 2019.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Shaalan A, Carpenter G and Proctor G: Caspases are key regulators of inflammatory and innate immune responses mediated by TLR3 in vivo. Mol Immunol. 94:190–199. 2018.PubMed/NCBI View Article : Google Scholar
|
