Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy

Human Reproduction Update

Volumn 20, Issue 6, 2014, Pages 905-923

  Traver, S ^a   Assou, S ^a,b   Scalici, E ^a,b   Haouzi, D ^a   Al Edani, T ^a,b   Belloc, S ^c   Hamamah, S ^a,b,d  

^a HÔPITAL SAINT ELOI   (France)

^b UNIV MONTPELLIER   (France)

^c Unilabs   (France)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Cell free DNA; Infertility; MicroRNAs; Non invasive biomarkers

Indexed keywords

DNA; MICRORNA; NUCLEIC ACID; BIOLOGICAL MARKER; TUMOR MARKER;

ANEUPLOIDY; ARTICLE; BLOOD LEVEL; CELL DEATH; CELL FREE SYSTEM; EMBRYO CULTURE; ENDOMETRIAL DISEASE; FEMALE INFERTILITY; GYNECOLOGIC CANCER; GYNECOLOGICAL AND OBSTETRIC CATHETER; HUMAN; OUTCOME ASSESSMENT; OVARY DISEASE; OVARY FOLLICLE DEVELOPMENT; OVARY FUNCTION; PREGNANCY DISORDER; PROGNOSIS; BLOOD; EMBRYO DEVELOPMENT; FEMALE; FETUS; GENETICS; GENITAL DISEASES, FEMALE; GENITAL NEOPLASMS, FEMALE; PATHOPHYSIOLOGY; PHYSIOLOGY; PREGNANCY; UTERUS DISEASE;

ANEUPLOIDY; BIOLOGICAL MARKERS; EMBRYONIC DEVELOPMENT; FEMALE; FETUS; GENITAL DISEASES, FEMALE; GENITAL NEOPLASMS, FEMALE; HUMANS; MICRORNAS; NUCLEIC ACIDS; OVARIAN DISEASES; PREGNANCY; PROGNOSIS; TUMOR MARKERS, BIOLOGICAL; UTERINE DISEASES;

EID: 84913588586     PISSN: 13554786     EISSN: 14602369     Source Type: Journal    
DOI: 10.1093/humupd/dmu031     Document Type: Article

References (292)

1. Abd El Naby WS, Hagos TH, Hossain MM, Salilew-Wondim D, Gad AY, Rings F, Cinar MU, Tholen E, Looft C, Schellander K et al. Expression analysis of regulatory microRNAs in bovine cumulus oocyte complex and preimplantation embryos. Zygote 2013;21:31-51.
2. AdachiT, Nakanishi M, OtsukaY, Nishimura K, HirokawaG, GotoY, Nonogi H, IwaiN. Plasma microRNA 499 as a biomarker of acute myocardial infarction. Clin Chem 2010;56:1183-1185.
3. Ai J, Zhang R, LiY, Pu J, LuY, Jiao J, Li K, Yu B, Li Z,WangRet al. Circulating microRNA-1 as a potential novel biomarker for acute myocardial infarction. Biochem Biophys Res Commun 2010;391:73-77.
4. Albertini DF, Combelles CM, Benecchi E, Carabatsos MJ. Cellular basis for paracrine regulation of ovarian follicle development. Reproduction 2001;121:647-653.
5. Altmae S, Martinez-Conejero JA, Esteban FJ, Ruiz-Alonso M, Stavreus-Evers A, Horcajadas JA, Salumets A. MicroRNAs miR-30b, miR-30d, and miR-494 regulate human endometrial receptivity. Reprod Sci 2013;20:308-317.
6. Amicucci P, Gennarelli M, Novelli G, Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000; 46:301-302.
7. Arroyo JD, Chevillet JR, Kroh EM, Ruf IK, Pritchard CC, Gibson DF, Mitchell PS, Bennett CF, Pogosova-Agadjanyn EL, Stirewalt DL et al. Argonaute2 complexes carry a population of circulating microRNAs independent of vesicles in human plasma. Proc Natl Acad Sci USA 2011;108:5003-5008.
8. Asaga S, Kuo C, Nguyen T, Terpenning M, Giuliano AE, Hoon DS. Direct serum assay for microRNA-21 concentrations in early and advanced breast cancer. Clin Chem 2011;57:84-91.
9. Assou S, Haouzi D, Mahmoud K, Aouacheria A, Guillemin Y, Pantesco V, Reme T, Dechaud H, De Vos J, Hamamah S. A non-invasive test for assessing embryo potential by gene expression profiles of human cumulus cells: a proof of concept study. Mol Hum Reprod 2008;14:711-719.
10. Assou S, Haouzi D, De Vos J, Hamamah S. Human cumulus cells as biomarkers for embryo and pregnancy outcomes. Mol Hum Reprod 2010;16:531-538.
11. Assou S, Boumela I, Haouzi D, Anahory T, Dechaud H, DeVos J, Hamamah S. Dynamic changes in gene expression during human early embryo development: from fundamental aspects to clinical applications. HumReprod Update 2011;17:272-290.
12. Assou S, Al-edani T, Haouzi D, Philippe N, Lecellier CH, Piquemal D, Commes T, Ait-Ahmed O, Dechaud H, Hamamah S. MicroRNAs: new candidates for the regulation of the human cumulus-oocyte complex. Hum Reprod 2013a; 28:3038-3049.
13. Assou S, Haouzi D, Dechaud H, Gala A, Ferrieres A, Hamamah S. Comparative gene expression profiling in human cumulus cells according to ovarian gonadotropin treatments. Biomed Res Int 2013b;2013:354582.
14. Azhar S. MicroRNA-122: a new player in the negative regulation of LH receptor expression by the LH receptor mRNA binding protein (LRBP). Endocrinology 2013;154:4439-4442.
15. Azziz R,Woods KS, Reyna R, Key TJ, Knochenhauer ES, Yildiz BO. The prevalence and features of the polycystic ovary syndrome in an unselected population. J Clin Endocrinol Metab 2004;89:2745-2749.
16. Bauer M, Hutterer G, Eder M, Majer S, Leshane E, Johnson KL, Peter I, Bianchi DW, Pertl B. A prospective analysis of cell-free fetal DNA concentration in maternal plasma as an indicator for adverse pregnancy outcome. Prenat Diagn 2006; 26:831-836.
17. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
18. Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 2004;25(Suppl A):S93-S101.
19. Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem 2014;60:78-87.
20. Bischoff FZ, Sinacori MK, Dang DD, Marquez-Do D, Horne C, Lewis DE, Simpson JL. Cell-free fetal DNA and intact fetal cells in maternal blood circulation: implications for first and second trimester non-invasive prenatal diagnosis. Hum Reprod Update 2002;8:493-500.
21. Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update 2005;11:59-67.
22. Boon RA, Vickers KC. Intercellular transport of microRNAs. Arterioscler Thromb Vasc Biol 2013;33:186-192.
23. Broer SL, van Disseldorp J, Broeze KA, Dolleman M, Opmeer BC, Bossuyt P, Eijkemans MJ, Mol BW, Broekmans FJ. Added value of ovarian reserve testing on patient characteristics in the prediction of ovarian response and ongoing pregnancy: an individual patient data approach. Hum Reprod Update 2013;19: 26-36.
24. Caburet S, Georges A, L'Hote D, Todeschini AL, Benayoun BA, Veitia RA. The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology. Mol Cell Endocrinol 2012;356:55-64.
25. Calin GA, Croce CM. MicroRNA signatures in human cancers. Nat Rev Cancer 2006; 6:857-866.
26. Calin GA, Dumitru CD, Shimizu M, Bichi R, Zupo S, Noch E, Aldler H, Rattan S, Keating M, Rai K et al. Frequent deletions and down-regulation of micro-RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci USA 2002;99:15524-15529.
27. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667-674.
28. Carletti MZ, Christenson LK. MicroRNA in the ovary and female reproductive tract. J Anim Sci 2009;87:E29-E38.
29. Carletti MZ, Fiedler SD, Christenson LK. MicroRNA 21 blocks apoptosis in mouse periovulatory granulosa cells. Biol Reprod 2010;83:286-295.
30. Chaffin CL, Schwinof KM, Stouffer RL. Gonadotropin and steroid control of granulosa cell proliferation during the periovulatory interval in rhesus monkeys. Biol Reprod 2001;65:755-762.
31. Chan M, Liaw CS, Ji SM, Tan HH, Wong CY, Thike AA, Tan PH, Ho GH, Lee AS. Identification of circulating microRNA signatures for breast cancer detection. Clin Cancer Res 2013;19:4477-4487.
32. Chen ZB, Yan M, Lei Z, Xiao B, Liang Y, Zhu ZL, Huang LJ, Liu JZ. Application of fetal DNA in maternal plasma for non-invasive prenatal diagnosis of fetal sex. Yi Chuan 2004;26:18-22.
33. Chen X, Ren JH, Guo H, Lin LH, Yao QX. Cell-free fetal DNA detection in maternal plasma using real-time PCR and cycling probe technology for prenatal screening beta-thalassaemia major. Nan Fang Yi Ke Da Xue Xue Bao 2008; 28:1210-1213.
34. Chen YH, Heneidi S, Lee JM, Layman LC, Stepp DW, Gamboa GM, Chen BS, Chazenbalk G, Azziz R. miRNA-93 inhibits GLUT4 and is overexpressed in adipose tissue of polycystic ovary syndrome patients and women with insulin resistance. Diabetes 2013;62:2278-2286.
35. Chim SS, Shing TK, Hung EC, Leung TY, Lau TK, Chiu RW, Lo YM. Detection and characterization of placental microRNAs in maternal plasma. Clin Chem 2008; 54:482-490.
36. Chiu RW, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo YM. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem 2002a;48:778-780.
37. Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002b;360: 998-1000.
38. Cho WC. OncomiRs: the discovery and progress of microRNAs in cancers. Mol Cancer 2007;6:60.
39. Choi WY, Giraldez AJ, Schier AF. Target protectors reveal dampening and balancing of nodal agonist and antagonist by miR-430. Science 2007a;318:271-274.
40. Choi Y, Qin Y, Berger MF, Ballow DJ, Bulyk ML, Rajkovic A. Microarray analyses of newborn mouse ovaries lacking Nobox. Biol Reprod 2007b; 77:312-319.
41. Chou JS, Jacobson JD, Patton WC, King A, Chan PJ. Modified isocratic capillary electrophoresis detection of cell-free DNA in semen. J Assist Reprod Genet 2004; 21:397-400.
42. Conn PM, CrowleyWF Jr. Gonadotropin-releasing hormone and its analogs. Annu Rev Med 1994;45:391-405.
43. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 2001; 21:1070-1074.
44. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P,DumezY. First trimester fetal sex determination in maternal serum using real-time PCR. Gynecol Obstet Fertil 2002; 30:953-957.
45. Cotter AM, Martin CM, O'Leary JJ, Daly SF. Increased fetal DNA in the maternal circulation in early pregnancy is associated with an increased risk of preeclampsia. Am J Obstet Gynecol 2004;191:515-520.
46. Cui XS, Sun SC, Kang YK, Kim NH. Involvement of microRNA-335-5p in cytoskeleton dynamics in mouse oocytes. Reprod Fertil Dev 2013;25:691-699.
47. Cuk K, Zucknick M, Heil J, Madhavan D, Schott S, Turchinovich A, Arlt D, Rath M, Sohn C, Benner A et al. Circulating microRNAs in plasma as early detection markers for breast cancer. Int J Cancer 2013a;132:1602-1612.
48. Cuk K, Zucknick M, Madhavan D, Schott S, Golatta M, Heil J, Marme F, Turchinovich A, Sinn P, Sohn C et al. Plasma microRNA panel for minimally invasive detection of breast cancer. PLoS ONE 2013b;8:e76729.
49. Czamanski-Cohen J, Sarid O, Cwikel J, Lunenfeld E, Douvdevani A, Levitas E, Har-Vardi I. Increased plasma cell-free DNA is associated with low pregnancy rates among women undergoing IVF-embryo transfer. Reprod Biomed Online 2013; 26:36-41.
50. Czamanski-Cohen J, Sarid O, Cwikel J, Levitas E, Lunenfeld E, Douvdevani A, Har-Vardi I. Decrease in cell free DNA levels following participation in stress reduction techniques among women undergoing infertility treatment. Arch Womens Ment Health 2014;17:251-3.
51. Dai A, Sun H, Fang T, Zhang Q, Wu S, Jiang Y, Ding L, Yan G, Hu Y. MicroRNA-133b stimulates ovarian estradiol synthesis by targeting Foxl2. FEBS Lett 2013; 587:2474-2482.
52. Dan S,Wang W, Ren J, Li Y, Hu H, Xu Z, Lau TK, Xie J, ZhaoW, Huang Het al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 2012;32:1225-1232.
53. da Silveira JC, Veeramachaneni DN, Winger QA, Carnevale EM, Bouma GJ. Cell-secreted vesicles in equine ovarian follicular fluid contain miRNAs and proteins: a possible new form of cell communication within the ovarian follicle. Biol Reprod 2012;86:71.
54. Davalos A, Goedeke L, Smibert P, Ramirez CM, Warrier NP, Andreo U, Cirera-Salinas D, Rayner K, Suresh U, Pastor-Pareja JC et al. miR-33a/b contribute to the regulation of fatty acid metabolism and insulin signaling. Proc Natl Acad Sci USA 2011;108:9232-9237.
55. Deng ZH, Li DC. Progress of research on biochemistry characteristics of cell-free fetal DNA in maternal plasma and its application. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007;24:314-318.
56. Diehl F, Li M, Dressman D, He Y, Shen D, Szabo S, Diaz LA, Goodman SN, David KA, Juhl H et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci USA 2005;102:16368-16373.
57. Dillhoff M, Liu J, FrankelW, Croce C, Bloomston M. MicroRNA-21 is overexpressed in pancreatic cancer and a potential predictor of survival. J Gastrointest Surg 2008; 12:2171-2176.
58. Dobrzycka B, Terlikowski SJ, Mazurek A, Kowalczuk O, Niklinska W, Chyczewski L, Kulikowski M. Circulating free DNA, p53 antibody and mutations of KRAS gene in endometrial cancer. Int J Cancer 2010;127:612-621.
59. Dobrzycka B, Terlikowski SJ, Kinalski M, Kowalczuk O, Niklinska W, Chyczewski L. Circulating free DNA and p53 antibodies in plasma of patients with ovarian epithelial cancers. Ann Oncol 2011;22:1133-1140.
60. Eichelser C, Flesch-Janys D, Chang-Claude J, Pantel K, Schwarzenbach H. Deregulated serum concentrations of circulating cell-free microRNAs miR-17, miR-34a, miR-155, and miR-373 in human breast cancer development and progression. Clin Chem 2013;59:1489-1496.
61. Eppig J. Mouse oocytes control metabolic co-operativity between oocytes and cumulus cells. Reprod Fertil Dev 2005;17:1-2.
62. Esau CC, Monia BP. Therapeutic potential for microRNAs. Adv Drug Deliv Rev 2007; 59:101-114.
63. Esquela-Kerscher A, Slack FJ. Oncomirs-microRNAs with a role in cancer. Nat Rev Cancer 2006;6:259-269.
64. Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013;33:580-583.
65. Farina A, LeShane ES, Lambert-Messerlian GM, Canick JA, Lee T, Neveux LM, Palomaki GE, Bianchi DW. Evaluation of cell-free fetal DNA as a second-trimester maternal serum marker of Down syndrome pregnancy. Clin Chem 2003;49: 239-242.
66. Farr RJ, Joglekar MV, Taylor CJ, Hardikar AA. Circulating non-coding RNAs as biomarkers of beta cell death in diabetes. Pediatr Endocrinol Rev 2013;11:14-20.
67. Fenwick J, Platteau P, Murdoch AP, Herbert M. Time from insemination to first cleavage predicts developmental competence of human preimplantation embryos in vitro. Hum Reprod 2002;17:407-412.
68. Fernandez-Valverde SL, Taft RJ, Mattick JS. MicroRNAs in beta-cell biology, insulin resistance, diabetes and its complications. Diabetes 2011;60:1825-1831.
69. Fiedler SD, Carletti MZ, Hong X, Christenson LK. Hormonal regulation of microRNA expression in periovulatory mouse mural granulosa cells. Biol Reprod 2008;79: 1030-1037.
70. Fiore R, Schratt G. MicroRNAs in vertebrate synapse development. ScientificWorldJournal 2007;7:167-177.
71. Foshay KM, Gallicano GI. miR-17 family miRNAs are expressed during early mammalian development and regulate stem cell differentiation. Dev Biol 2009; 326:431-443.
72. Friedman RC, Farh KK, Burge CB, Bartel DP. Most mammalian mRNAs are conserved targets of microRNAs. Genome Res 2009;19:92-105.
73. Gahan PB, Anker P, Stroun M. Metabolic DNA as the origin of spontaneously released DNA? Ann N Y Acad Sci 2008;1137:7-17.
74. Ge H, Huang X, Li X, Chen S, Zheng J, Jiang H, Zhang C, Pan X, Guo J, Chen F et al. Noninvasive prenatal detection for pathogenic CNVs: the application in alpha-thalassemia. PLoS ONE 2013;8:e67464.
75. Gebremedhn S, Ahmad I, Salilew-Wondim D, Sahadevan S, Hoelker M, Rings F, Udin J, Tholen E, Looft C, Schellander K et al. 113 expression profiling of noncoding microRNAs in bovine granulosa cells of preovulatory dominant follicle using deep sequencing. Reprod Fertil Dev 2013;26:170-171.
76. Gerin I, Clerbaux LA, Haumont O, Lanthier N, Das AK, Burant CF, Leclercq IA, MacDougald OA, Bommer GT. Expression of miR-33 from an SREBP2 intron inhibits cholesterol export and fatty acid oxidation. J Biol Chem 2010; 285:33652-33661.
77. Gilabert-Estelles J, Braza-Boils A, Ramon LA, Zorio E, Medina P, Espana F, Estelles A. Role of microRNAs in gynecological pathology. Curr Med Chem 2012; 19:2406-2413.
78. Gilchrist RB, Lane M, Thompson JG. Oocyte-secreted factors: regulators of cumulus cell function and oocyte quality. Hum Reprod Update 2008;14:159-177.
79. Godoy J, Nishimura M, Webster NJ. Gonadotropin-releasing hormone induces miR-132 and miR-212 to regulate cellular morphology and migration in immortalized LbetaT2 pituitary gonadotrope cells. Mol Endocrinol 2011; 25:810-820.
80. Gonzalez G, Behringer RR. Dicer is required for female reproductive tract development and fertility in the mouse. Mol Reprod Dev 2009;76:678-688.
81. Gonzalez-Gonzalez MC, Garcia-Hoyos M, Trujillo MJ, Rodriguez de Alba M, Lorda-Sanchez I, Diaz-Recasens J, Gallardo E, Ayuso C, Ramos C. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn 2002;22:946-948.
82. Gonzalez-Gonzalez MC, Trujillo MJ, Rodriguez de Alba M, Ramos C. Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. Neurology 2003;60:1214-1215.
83. Gonzalez-Gonzalez C, Garcia-Hoyos M, Trujillo-Tiebas MJ, Lorda-Sanchez I, de Alba MR, Infantes F, Gallego J, Diaz-Recasens J, Ayuso C, Ramos C. Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience. J Histochem Cytochem 2005;53:307-314.
84. Gorzelnik K1, Bijok J, Zimowski JG, Jakiel G, Roszkowski T. Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cell-free fetal DNA. Ginekol Pol 2013; 84:714-719.
85. Gunel T, Zeybek YG, Akcakaya P, Kalelioglu I, Benian A, Ermis H, Aydinli K. Serum microRNA expression in pregnancies with preeclampsia. Genet Mol Res 2011; 10:4034-4040.
86. GuoLJ, Zhang QY. Decreased serummiR-181a is a potential newtool for breast cancer screening. Int J Mol Med 2012;30:680-686.
87. Guo F, Tian J, Lin Y, Jin Y,Wang L, Cui M. Serum microRNA-92 expression in patients with ovarian epithelial carcinoma. J Int Med Res 2013;41:1456-1461.
88. Haghiac M, Vora NL, Basu S, Johnson KL, Presley L, BianchiDW, Hauguel-de Mouzon S. Increased death of adipose cells, a path to release cell-free DNA into systemic circulation of obese women. Obesity (Silver Spring) 2012;20:2213-2219.
89. Hahn S, Holzgreve W. Fetal cells and cell-free fetalDNAin maternal blood: newinsights into pre-eclampsia. Hum Reprod Update 2002;8:501-508.
90. Hahn S, Huppertz B, Holzgreve W. Fetal cells and cell free fetal nucleic acids in maternal blood: new tools to study abnormal placentation? Placenta 2005;26: 515-526.
91. Hahn S, Rusterholz C, Hosli I, Lapaire O. Cell-free nucleic acids as potential markers for preeclampsia. Placenta 2011;32(Suppl):S17-S20.
92. Hansen T, Olsen L, Lindow M, Jakobsen KD, Ullum H, Jonsson E, Andreassen OA, Djurovic S, Melle I, Agartz I et al. Brain expressed microRNAs implicated in schizophrenia etiology. PLoS ONE 2007;2:e873.
93. Hasuwa H, Ueda J, Ikawa M, Okabe M. miR-200b and miR-429 function in mouse ovulation and are essential for female fertility. Science 2013;341:71-73.
94. Hawkins SM, Matzuk MM. Oocyte-somatic cell communication and microRNA function in the ovary. Ann Endocrinol (Paris) 2010;71:144-148.
95. Heneghan HM,Miller N, Kelly R,Newell J, Kerin MJ. Systemic miRNA-195 differentiates breast cancer from other malignancies and is a potential biomarker for detecting noninvasive and early stage disease. Oncologist 2010;15:673-682.
96. Hergenreider E, Heydt S, Treguer K, Boettger T, Horrevoets AJ, Zeiher AM, Scheffer MP, Frangakis AS, Yin X, Mayr M et al. Atheroprotective communication between endothelial cells and smooth muscle cells through miRNAs. Nat Cell Biol 2012;14:249-256.
97. Hill M, Lewis C, Jenkins L, Allen S, Elles RG, Chitty LS. Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin Biol Ther 2012;12(Suppl 1):S119-S126.
98. Holdenrieder S, Stieber P,Bodenmuller H, Busch M, VonPawel J, Schalhorn A, Nagel D, Seidel D. Circulating nucleosomes in serum. Ann N Y Acad Sci 2001a;945:93-102.
99. Holdenrieder S, Stieber P, Bodenmuller H, Fertig G, Furst H, Schmeller N, Untch M, Seidel D. Nucleosomes in serum as a marker for cell death. Clin Chem Lab Med 2001b;39:596-605.
100. Honda H, Miharu N, Ohashi Y, Samura O, Kinutani M, Hara T, Ohama K. Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet 2002;110:75-79.
101. Hong X, Luense LJ, McGinnis LK, Nothnick WB, Christenson LK. Dicer1 is essential for female fertility and normal development of the female reproductive system. Endocrinology 2008;149:6207-6212.
102. Hong F, Li Y, Xu Y, Zhu L. Prognostic significance of serum microRNA-221 expression in human epithelial ovarian cancer. J Int Med Res 2013;41:64-71.
103. Horie T, Ono K, Horiguchi M, Nishi H, Nakamura T, Nagao K, Kinoshita M, Kuwabara Y, Marusawa H, Iwanaga Y et al. MicroRNA-33 encoded by an intron of sterol regulatory element-binding protein 2 (Srebp2) regulates HDL in vivo. Proc Natl Acad Sci USA 2010;107:17321-17326.
104. Horsting JM, Dlouhy SR, Hanson K, Quaid K, Bai S, Hines KA. Genetic counselors' experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy. J Genet Couns 2014;23:377-400.
105. Hossain MM, Sohel MM, Schellander K, TesfayeD. Characterization and importance of microRNAs in mammalian gonadal functions. Cell Tissue Res 2012;349:679-690.
106. Hou QF,Wu D, Chu Y, Kang B, Liao SX, Yang YL, Zhang CY, Zhang JX,WuG. Clinical application of noninvasive prenatal diagnosis using cell free fetal DNA in maternal plasma. Zhonghua Fu Chan Ke Za Zhi 2012;47:813-817.
107. Hui L, Bianchi DW. Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet 2013;29:84-91.
108. Hulsmans M, Holvoet P. MicroRNAs as early biomarkers in obesity and related metabolic and cardiovascular diseases. Curr Pharm Des. 2013;19:5704-5717.
109. Hulsmans M, De Keyzer D, Holvoet P. MicroRNAs regulating oxidative stress and inflammation in relation to obesity and atherosclerosis. FASEB J 2011; 25:2515-2527.
110. Huppertz B, Kingdom JC. Apoptosis in the trophoblast-role of apoptosis in placental morphogenesis. J Soc Gynecol Investig 2004;11:353-362.
111. Hutvagner G, Simard MJ. Argonaute proteins: key players inRNAsilencing. Nat Rev Mol Cell Biol 2008;9:22-32.
112. Hutvagner G, McLachlan J, Pasquinelli AE, Balint E, Tuschl T, Zamore PD. A cellular function for the RNA-interference enzyme Dicer in the maturation of the let-7 small temporal RNA. Science 2001;293:834-838.
113. Illanes S, Soothill P. Noninvasive approach for the management of hemolytic disease of the fetus. Expert Rev Hematol. 2009;2:577-582.
114. Jia SZ, Yang Y, Lang J, Sun P, Leng J. Plasma miR-17-5p, miR-20a and miR-22 are down-regulated in women with endometriosis. Hum Reprod 2013;28: 322-330.
115. Kaiser UB, Conn PM, ChinWW. Studies of gonadotropin-releasing hormone (GnRH) action using GnRH receptor-expressing pituitary cell lines. Endocr Rev 1997; 18:46-70.
116. Kamat AA, Bischoff FZ, Dang D, BaldwinMF, Han LY, Lin YG, MerrittWM,LandenCN Jr, Lu C, Gershenson DM et al. Circulating cell-free DNA: a novel biomarker for response to therapy in ovarian carcinoma. Cancer Biol Ther 2006a;5:1369-1374.
117. Kamat AA, Sood AK, Dang D, Gershenson DM,Simpson JL, Bischoff FZ. Quantification of total plasma cell-freeDNAin ovarian cancer using real-time PCR. AnnNY Acad Sci 2006b;1075:230-234.
118. Kamat AA, Baldwin M, Urbauer D, Dang D, Han LY, Godwin A, Karlan BY, Simpson JL, Gershenson DM, Coleman RL et al. Plasma cell-free DNA in ovarian cancer: an independent prognostic biomarker. Cancer 2010;116:1918-1925.
119. KanCW, Hahn MA, Gard GB, Maidens J, Huh JY, Marsh DJ,HowellVM. Elevated levels of circulating microRNA-200 family members correlate with serous epithelial ovarian cancer. BMC Cancer 2012;12:627.
120. Khorram Khorshid HR, Zargari M, Sadeghi MR, Edallatkhah H, Shahhosseiny MH, Kamali K. Early fetal gender determination using real-time PCR analysis of cell-free fetal DNA during 6th-10th weeks of gestation. Acta Med Iran 2013; 51:209-214.
121. Kim YJ, Ku SY, Kim YY, Liu HC, Chi SW, Kim SH, Choi YM, Kim JG, Moon SY. MicroRNAs transfected into granulosa cells may regulate oocyte meiotic competence during in vitro maturation of mouse follicles. Hum Reprod 2013; 28:3050-3061.
122. Kumar S, Keerthana R, Pazhanimuthu A, Perumal P. Overexpression of circulating miRNA-21 and miRNA-146a in plasma samples of breast cancer patients. Indian J Biochem Biophys 2013;50:210-214.
123. Lagos-Quintana M, Rauhut R, Lendeckel W, Tuschl T. Identification of novel genes coding for small expressed RNAs. Science 2001;294:853-858.
124. Laktionov PP,Tamkovich SN, Rykova EY, Bryzgunova OE, StarikovAV, KuznetsovaNP, Sumarokov SV, Kolomiets SA, SevostianovaNV, Vlassov VV. Extracellular circulating nucleic acids in human plasma in health and disease. Nucleosides Nucleotides Nucleic Acids 2004;23:879-883.
125. Lambert-Messerlian G, Kloza EM, Williams J III, Loucky J, O'Brien B, Wilkins-Haug L, Mahoney MJ, De Biasio P, Borrell A, Ehrich M et al. Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies. Genet Med 2014;16:419-422.
126. Langlois S, Brock JA, Wilson RD, Audibert F, Carroll J, Cartier L, Gagnon A, Johnson JA, Macdonald W, Murphy-Kaulbeck L et al. Current status in non-invasive prenatal detection of down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can 2013;35:177-181.
127. Lapaire O, Volgmann T, Grill S, Hosli I, Zanetti-Daellenbach R, Zhong XY, Holzgreve W. Significant correlation between maternal body mass index at delivery and in the second trimester, and second trimester circulating total cell-free DNA levels. Reprod Sci 2009;16:274-279.
128. Latronico MV, Catalucci D, Condorelli G. Emerging role of microRNAs in cardiovascular biology. Circ Res 2007;101:1225-1236.
129. Lawrie CH, Gal S, Dunlop HM, Pushkaran B, Liggins AP, Pulford K, Banham AH, Pezzella F, Boultwood J, Wainscoat JS et al. Detection of elevated levels of tumour-associated microRNAs in serum of patients with diffuse large B-cell lymphoma. Br J Haematol 2008;141:672-675.
130. Lazar L, Rigo J Jr, Nagy B, Balogh K, Mako V, Cervenak L, Mezes M, Prohaszka Z, Molvarec A. Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia. BMC Med Genet 2009;10:120.
131. Lazar L, Nagy B, Molvarec A, Rigo J Jr. Quantity of total cell freeand cell free fetalDNAin pregnancies with no complications and with preeclampsia. Orv Hetil 2010; 151:784-787.
132. Lazar DA, Cohen SA, Evora DK, Losasso BE, Bickler SW. Cecal bascule in a child: an unusual cause of postoperative bowel obstruction. J Pediatr Surg 2012;47:609-611.
133. Lee RC, Feinbaum RL, Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14. Cell 1993;75: 843-854.
134. Lee T, LeShane ES, Messerlian GM, Canick JA, Farina A, Heber WW, Bianchi DW. Down syndrome and cell-free fetal DNA in archived maternal serum. Am J Obstet Gynecol 2002;187:1217-1221.
135. Lee Y, Kim M, Han J, Yeom KH, Lee S, Baek SH, Kim VN. MicroRNA genes are transcribed by RNA polymerase II. EMBO J 2004;23:4051-4060.
136. Lei L, Jin S, Gonzalez G, Behringer RR,Woodruff TK. The regulatory role of Dicer in folliculogenesis in mice. Mol Cell Endocrinol 2010;315:63-73.
137. Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM. Maternal plasma fetalDNAas a marker for preterm labour. Lancet 1998;352:1904-5.
138. Leung TN, Zhang J, Lau TK, Chan LY, Lo YM. Increased maternal plasma fetal DNA concentrations in women who eventually develop preeclampsia. Clin Chem 2001; 47:137-139.
139. Levine RJ, Hauth JC, Curet LB, Sibai BM, Catalano PM, Morris CD, DerSimonian R, Esterlitz JR, Raymond EG, Bild DE et al. Trial of calcium to prevent preeclampsia. N Engl J Med 1997;337:69-76.
140. Levine RJ, Qian C, Leshane ES, Yu KF, England LJ, Schisterman EF, Wataganara T, Romero R, Bianchi DW. Two-stage elevation of cell-free fetal DNA in maternal sera before onset of preeclampsia. Am J Obstet Gynecol 2004;190:707-713.
141. Li GH, Rong KB, Luo YF, Chen D, Gong CP,Wu J,Di YW, Ge YF. Prenatal diagnosis of beta-thalassaemia using cell-free fetal DNA in maternal plasma. Nan Fang Yi Ke Da Xue Xue Bao 2011;31:1437-1439.
142. Liggett TE, Melnikov A, Yi Q, Replogle C, Hu W, Rotmensch J, Kamat A, Sood AK, Levenson V. Distinctive DNA methylation patterns of cell-free plasma DNA in women with malignant ovarian tumors. Gynecol Oncol 2011a;120:113-120.
143. Liggett TE, Melnikov AA, Marks JR, Levenson VV. Methylation patterns in cell-free plasma DNA reflect removal of the primary tumor and drug treatment of breast cancer patients. Int J Cancer 2011b;128:492-499.
144. Lim JH, Kim MJ, Kim SY, Kim HO, Song MJ, Kim MH, Park SY, Yang JH, Ryu HM. Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. J Assist Reprod Genet 2011;28:167-172.
145. Lin F, Li R, Pan ZX, Zhou B, Yu de B,Wang XG, Ma XS, Han J, Shen M, Liu HL. miR-26b promotes granulosa cell apoptosis by targeting ATM during follicular atresia in porcine ovary. PLoS ONE 2012;7:e38640.
146. Liu J, Mao Q, Liu Y, Hao X, Zhang S, Zhang J. Analysis of miR-205 and miR-155 expression in the blood of breast cancer patients. Chin J Cancer Res 2013;25:46-54.
147. Lo YM. Recent advances in fetal nucleic acids in maternal plasma. J Histochem Cytochem 2005;53:293-296.
148. Lo YM, ChiuRW. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis. Clin Chem 2008;54:461-466.
149. Lo YM, Lau TK, Zhang J, Leung TN, Chang AM, Hjelm NM, Elmes RS, Bianchi DW. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem 1999;45:1747-1751.
150. Ma T, Jiang H, Gao Y, Zhao Y, Dai L, Xiong Q, Xu Y, Zhao Z, Zhang J. Microarray analysis of differentially expressed microRNAs in non-regressed and regressed bovine corpus luteum tissue;microRNA-378 may suppress luteal cell apoptosis by targeting the interferon gamma receptor 1 gene. J Appl Genet 2011;52:481-486.
151. Mar-Aguilar F, Mendoza-Ramirez JA, Malagon-Santiago I, Espino-Silva PK, Santuario-Facio SK, Ruiz-Flores P, Rodriguez-Padilla C, Resendez-Perez D. Serum circulating microRNA profiling for identification of potential breast cancer biomarkers. Dis Markers 2013;34:163-169.
152. Marquart TJ, Allen RM, Ory DS, Baldan A. miR-33 links SREBP-2 induction to repression of sterol transporters. Proc Natl Acad Sci USA 2010;107:12228-12232.
153. Mase Y, Ishibashi O, Ishikawa T, Takizawa T, Kiguchi K, Ohba T, Katabuchi H, Takeshita T. MiR-21 is enriched in the RNA-induced silencing complex and targets COL4A1 in human granulosa cell lines. Reprod Sci 2012;19:1030-1040.
154. McBride D, Carre W, Sontakke SD, Hogg CO, Law A, Donadeu FX, Clinton M. Identification of miRNAs associated with the follicular-luteal transition in the ruminant ovary. Reproduction 2012;144:221-233.
155. McCallie B, Schoolcraft WB, Katz-Jaffe MG. Aberration of blastocyst microRNA expression is associated with human infertility. Fertil Steril 2010;93:2374-2382.
156. Medeiros LA, Dennis LM, Gill ME, Houbaviy H, Markoulaki S, Fu D, WhiteAC, Kirak O, Sharp PA, Page DC et al. Mir-290-295 deficiency in mice results in partially penetrant embryonic lethality and germ cell defects. Proc Natl Acad Sci USA 2011; 108:14163-14168.
157. Menon B, Sinden J, Franzo-Romain M, Botta RB, Menon KM. Regulation of LH receptor mRNA binding protein by miR-122 in rat ovaries. Endocrinology 2013; 154:4826-4834.
158. Merkerova M, Vasikova A, Belickova M, Bruchova H. MicroRNA expression profiles in umbilical cord blood cell lineages. Stem Cells Dev 2010;19:17-26.
159. Miles JR, McDaneld TG, Wiedmann RT, Cushman RA, Echternkamp SE, Vallet JL, Smith TP. MicroRNA expression profile in bovine cumulus-oocyte complexes: possible role of let-7 and miR-106a in the development of bovine oocytes. Anim Reprod Sci 2012;130:16-26.
160. Miranda ML, Macher HC, Munoz-Hernandez R, Vallejo-Vaz A, Moreno-Luna R, Villar J, Guerrero JM, Stiefel P. Role of circulating cell-freeDNAlevels in patients with severe preeclampsia and HELLP syndrome. Am J Hypertens 2013;26:1377-1380.
161. Mitchell PS, Parkin RK, Kroh EM, Fritz BR, Wyman SK, Pogosova-Agadjanyan EL, Peterson A, Noteboom J, O'Briant KC, Allen A et al. Circulating microRNAs as stable blood-based markers for cancer detection. Proc Natl Acad Sci USA 2008; 105:10513-10518.
162. Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S et al. Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders. J Hum Genet 2011;56:296-299.
163. Montagnana M, Lippi G, Guidi GC.Newfrontiers in noninvasive, prenatal screening and diagnosis: fetal DNA circulating in maternal blood. Minerva Ginecol 2007; 59:331-341.
164. Mori T, Amano T, Shimizu H. Roles of gap junctional communication of cumulus cells in cytoplasmic maturation of porcine oocytes cultured in vitro. Biol Reprod 2000; 62:913-919.
165. Murchison EP, Stein P, Xuan Z, Pan H, ZhangMQ,Schultz RM, Hannon GJ. Critical roles for Dicer in the female germline. Genes Dev 2007;21:682-693.
166. Murri M, Insenser M, Fernandez-Duran E, San-Millan JL, Escobar-Morreale HF. Effects of polycystic ovary syndrome (PCOS), sex hormones, and obesity on circulating miRNA-21, miRNA-27b, miRNA-103, and miRNA-155 expression. J Clin Endocrinol Metab 2013;98:E1835-E1844.
167. Murtaza M, Dawson SJ, Tsui DW, Gale D, Forshew T, Piskorz AM, Parkinson C, Chin SF, Kingsbury Z, Wong AS et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 2013;497:108-112.
168. Nagaraja AK, Andreu-Vieyra C, Franco HL, Ma L, Chen R, Han DY, Zhu H, Agno JE, Gunaratne PH, DeMayo FJ et al. Deletion of Dicer in somatic cells of the female reproductive tract causes sterility. Mol Endocrinol 2008;22:2336-2352.
169. Najafi-Shoushtari SH, Kristo F, Li Y, Shioda T, Cohen DE, Gerszten RE, Naar AM. MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis. Science 2010;328:1566-1569.
170. Ng EK, Li R, Shin VY, Jin HC, Leung CP,Ma ES, Pang R, Chua D, Chu KM, LawWLet al. Circulating microRNAs as specific biomarkers for breast cancer detection. PLoSONE 2013;8:e53141.
171. Nicolaides KH, Syngelaki A, Poon LC, Gil MM, Wright D. First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther 2014;35:118-126.
172. No JH, Kim K, Park KH, Kim YB. Cell-free DNA level as a prognostic biomarker for epithelial ovarian cancer. Anticancer Res 2012;32:3467-3471.
173. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J III, Mitchell ME, Adair CD et al. Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207:137 e131-138.
174. Ohashi Y, Miharu N, Honda H, Samura O, Ohama K. Quantitation of fetal DNA in maternal serum in normal and aneuploid prenancies. Hum Genet 2001;108:123-127.
175. Otsuka M, Zheng M, Hayashi M, Lee JD, Yoshino O, Lin S, Han J. Impaired microRNA processing causes corpus luteum insufficiency and infertility in mice. J Clin Invest 2008; 118:1944-1954.
176. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WWet al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
177. Pangas SA, Choi Y, Ballow DJ, ZhaoY,Westphal H, MatzukMM,Rajkovic A. Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8. Proc Natl Acad Sci USA 2006;103:8090-8095.
178. Parker KL, Schimmer BP. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev 1997;18:361-377.
179. Pastorelli LM, Wells S, Fray M, Smith A, Hough T, Harfe BD, McManus MT, Smith L, Woolf AS, Cheeseman M et al. Genetic analyses reveal a requirement for Dicer1 in the mouse urogenital tract. Mamm Genome 2009;20:140-151.
180. Perkins DO, Jeffries CD, Jarskog LF, Thomson JM,Woods K, Newman MA, Parker JS, Jin J, Hammond SM. microRNA expression in the prefrontal cortex of individuals with schizophrenia and schizoaffective disorder. Genome Biol 2007;8:R27.
181. Pescador N, Perez-Barba M, Ibarra JM, Corbaton A, Martinez-Larrad MT, Serrano-Rios M. Serum circulating microRNA profiling for identification of potential type 2 diabetes and obesity biomarkers. PLoS ONE 2013;8:e77251.
182. Pisarska MD, Barlow G, Kuo FT. Minireview: roles of the forkhead transcription factor FOXL2 in granulosa cell biology and pathology. Endocrinology 2011;152: 1199-1208.
183. Pisetsky DS, Fairhurst AM. The origin of extracellularDNAduring the clearance of dead and dying cells. Autoimmunity 2007;40:281-284.
184. Reedy AM, Zheng Y, Jagadeeswaran G, Macmil SL, Graham WB, Roe BA, Desilva U, Zhang W, Sunkar R. Cloning, characterization and expression analysis of porcine microRNAs. BMC Genomics 2009;10:65.
185. Rekker K, Saare M, Roost AM, Salumets A, Peters M. Circulating microRNA profile throughout the menstrual cycle. PLoS ONE 2013;8:e81166.
186. Rijnders RJ, van der Schoot CE, Bossers B, de Vroede MA, Christiaens GC. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol 2001;98:374-378.
187. Roberts AC, Porter KE. Cellular and molecular mechanisms of endothelial dysfunction in diabetes. Diab Vasc Dis Res 2013;10:472-482.
188. Robinson C, van den Boom D, Bombard AT. Noninvasive prenatal detection of aneuploidy. Clin Obstet Gynecol 2014;57:210-25.
189. Robker RL, Richards JS. Hormone-induced proliferation and differentiation of granulosa cells: a coordinated balance of the cell cycle regulators cyclin D2 and p27Kip1. Mol Endocrinol 1998;12:924-940.
190. Rodriguez A, Griffiths-Jones S, Ashurst JL, Bradley A. Identification of mammalian microRNA host genes and transcription units. Genome Res 2004; 14:1902-1910.
191. Rosenbluth EM, Shelton DN, Sparks AE, Devor E, Christenson L, Van Voorhis BJ. MicroRNA expression in the human blastocyst. Fertil Steril 2013;99:855-861. e3.
192. Rottiers V, Naar AM. MicroRNAs in metabolism andmetabolic disorders. Nat Rev Mol Cell Biol 2012;13:239-250.
193. Russo ML, Blakemore KJ. A historical and practical review of first trimester aneuploidy screening. Semin Fetal Neonatal Med 2014;19:183-187.
194. Saito H, Sekizawa A, Morimoto T, Suzuki M, Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 2000;356:1170.
195. Sakkas D, Percival G, D'Arcy Y, Sharif K, Afnan M. Assessment of early cleaving in vitro fertilized human embryos at the 2-cell stage before transfer improves embryo selection. Fertil Steril 2001;76:1150-1156.
196. Sang Q, Yao Z, Wang H, Feng R, Zhao X, Xing Q, Jin L, He L, Wu L, Wang L. Identification of microRNAs in human follicular fluid: characterization of microRNAs that govern steroidogenesis in vitro and are associated with polycystic ovary syndrome in vivo. J Clin Endocrinol Metab 2013;98:3068-3079.
197. Schmidt D, Ovitt CE, Anlag K, Fehsenfeld S, Gredsted L, Treier AC, Treier M. The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development 2004;131:933-942.
198. Schrauder MG, Strick R, Schulz-Wendtland R, Strissel PL, Kahmann L, Loehberg CR, Lux MP, Jud SM, Hartmann A, Hein A et al. Circulating micro-RNAs as potential blood-based markers for early stage breast cancer detection. PLoS ONE 2012; 7:e29770.
199. Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer 2011;11:426-437.
200. Schwarzenbach H, Milde-Langosch K, Steinbach B, Muller V, Pantel K. Diagnostic potential of PTEN-targeting miR-214 in the blood of breast cancer patients. Breast Cancer Res Treat 2012;134:933-941.
201. Sekizawa A, Saito H. Prenatal screening of single-gene disorders from maternal blood. Am J Pharmacogenomics. 2001;1:111-7.
202. Sekizawa A, Jimbo M, Saito H, Iwasaki M, Sugito Y, Yukimoto Y, Otsuka J, Okai T. Increased cell-free fetal DNA in plasma of two women with invasive placenta. Clin Chem 2002;48:353-354.
203. Sekizawa A, Farina A, Koide K, Iwasaki M, Honma S, Ichizuka K, Saito H, Okai T. beta-globin DNA in maternal plasma as a molecular marker of pre-eclampsia. Prenat Diagn 2004;24:697-700.
204. Seli E, Sakkas D, Scott R, Kwok SC, Rosendahl SM, Burns DH. Noninvasive metabolomic profiling of embryo culture media using Raman and near-infrared spectroscopy correlates with reproductive potential of embryos in women undergoing in vitro fertilization. Fertil Steril 2007;88:1350-1357.
205. Seli E, Vergouw CG, Morita H, Botros L, Roos P, Lambalk CB, Yamashita N, Kato O, Sakkas D. Noninvasive metabolomic profiling as an adjunct to morphology for noninvasive embryo assessment in women undergoing single embryo transfer. Fertil Steril 2010;94:535-542.
206. Seli E, Bruce C, Botros L, Henson M, Roos P, Judge K, Hardarson T, Ahlstrom A, Harrison P, Henman M et al. Receiver operating characteristic (ROC) analysis of day 5 morphology grading and metabolomic viability score on predicting implantation outcome. J Assist Reprod Genet 2011;28:137-144.
207. Shea JL, Diamandis EP, Hoffman B, Lo YM, Canick J, van den Boom D. A new era in prenatal diagnosis: the use of cell-free fetal DNA in maternal circulation for detection of chromosomal aneuploidies. Clin Chem 2013;59:1151-1159.
208. Si H, Sun X, Chen Y, Cao Y, Chen S,Wang H, Hu C. Circulating microRNA-92a and microRNA-21 as novel minimally invasive biomarkers for primary breast cancer. J Cancer Res Clin Oncol 2013;139:223-229.
209. Sibai B, Dekker G, Kupferminc M. Pre-eclampsia. Lancet 2005;365:785-799.
210. Silvestri P, Di Russo C, Rigattieri S, Fedele S, Todaro D, Ferraiuolo G, Altamura G, Loschiavo P. MicroRNAs and ischemic heart disease: towards a better comprehension of pathogenesis, new diagnostic tools and new therapeutic targets. Recent Pat Cardiovasc Drug Discov 2009;4:109-118.
211. Singh PK, Singh AV, Chauhan DS. Current understanding on micro RNAs and its regulation in response to Mycobacterial infections. J Biomed Sci 2013;20:14.
212. Sirichotiyakul S, Charoenkwan P, Sanguansermsri T. Prenatal diagnosis of homozygous alpha-thalassemia-1 by cell-free fetal DNA in maternal plasma. Prenat Diagn 2012; 32:45-49.
213. Sirotkin AV, Ovcharenko D, Grossmann R, Lauková M, Mlyncek M. Identification of microRNAs controlling human ovarian cell steroidogenesis via a genome-scale screen. J Cell Physiol 2009;219:415-420.
214. Sirotkin AV, Laukova M, Ovcharenko D, Brenaut P, Mlyncek M. Identification of microRNAs controlling human ovarian cell proliferation and apoptosis. J Cell Physiol 2010;223:49-56.
215. Sohel MM, Hoelker M, Noferesti SS, Salilew-Wondim D, Tholen E, Looft C, Rings F, Uddin MJ, Spencer TE, Schellander K et al. Exosomal and non-exosomal transport of extra-cellular microRNAs in follicular fluid: implications for bovine oocyte developmental competence. PLoS ONE 2013;8:e78505.
216. Sparks AB, Struble CA,Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-freeDNAobtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206:319 e1-9.
217. Spencer K, de Kok JB, Swinkels DW. Increased total cell-free DNA in the serum of pregnant women carrying a fetus affected by trisomy 21. Prenat Diagn 2003; 23:580-583.
218. Stigliani S, Anserini P, Venturini PL, Scaruffi P. Mitochondrial DNA content in embryo culture medium is significantly associated with human embryo fragmentation. Hum Reprod 2013;28:2652-2660.
219. Sugiura K, Pendola FL, Eppig JJ. Oocyte control of metabolic cooperativity between oocytes and companion granulosa cells: energy metabolism. Dev Biol 2005; 279:20-30.
220. Suh N, baenher L, Moltzahn F, Melton C, Shenoy A, Chen J, Blelloch R. MicroRNA function is globally suppressed in mouse oocytes and early embryos. Curr Biol 2010;20:271-277.
221. Sun M, Gomes S, Chen P, Frankenberger CA, Sankarasharma D, Chung CH, Chada KK, Rosner MR. RKIP and HMGA2 regulate breast tumor survival and metastasis through lysyl oxidase and syndecan-2. Oncogene 2013. doi:10.1038/ onc.2013.328.
222. Swinkels DW, de Kok JB, Hendriks JC, Wiegerinck E, Zusterzeel PL, Steegers EA. Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome as a complication of preeclampsia in pregnant women increases the amount of cell-free fetal and maternal DNA in maternal plasma and serum. Clin Chem 2002; 48:650-653.
223. Takanabe R, Ono K, Abe Y, Takaya T, Horie T,Wada H, Kita T, Satoh N, Shimatsu A, Hasegawa K. Up-regulated expression of microRNA-143 in association with obesity in adipose tissue of mice fed high-fat diet. Biochem Biophys Res Commun 2008; 376:728-732.
224. Tanaka H, Tsuda H, Nishimura S,Nomura H, Kataoka F, Chiyoda T, Tanaka K, Iguchi Y, Susumu N, Aoki D. Role of circulating free alu DNA in endometrial cancer. Int J Gynecol Cancer 2012;22:82-86.
225. Tang F, Kaneda M, O'Carroll D, Hajkova P, Barton SC, Sun YA, Lee C, Tarakhovsky A, Lao K, Surani MA. Maternal microRNAs are essential for mouse zygotic development. Genes Dev 2007;21:644-648.
226. Thomas M, Lieberman J, Lal A. Desperately seeking microRNA targets. Nat Struct Mol Biol 2010;17:1169-1174.
227. Thery C. Exosomes: secreted vesicles and intercellular communications. F1000 Biol Rep 2011;3:15.
228. Tijsen AJ, Creemers EE, Moerland PD, de Windt LJ, van der Wal AC, Kok WE, Pinto YM. MiR423-5p as a circulating biomarker for heart failure. Circ Res 2010; 106:1035-1039.
229. Trajkovski M, Hausser J, Soutschek J, Bhat B, Akin A, Zavolan M, Heim MH Stoffel M. MicroRNAs 103 and 107 regulate insulin sensitivity. Nature 2011; 474:649-653.
230. Turchinovich A, Weiz L, Langheinz A, Burwinkel B. Characterization of extracellular circulating microRNA. Nucleic Acids Res 2011;39:7223-7233.
231. Tzur G, Levy A, Meiri E, Barad O, Spector Y, Bentwich Z, Mizrahi L, Katzenellenbogen M, Ben-Shushan E, Reubinoff BE et al. MicroRNA expression patterns and function in endodermal differentiation of human embryonic stem cells. PLoS ONE 2008;3:e3726.
232. Valadi H, Ekstrom K, Bossios A, Sjostrand M, Lee JJ, Lotvall JO. Exosome-mediated transfer of mRNAs and microRNAs is a novel mechanism of genetic exchange between cells. Nat Cell Biol 2007;9:654-659.
233. van Rooij E, Olson EN. MicroRNAs put their signatures on the heart. Physiol Genomics 2007;31:365-366.
234. van Schooneveld E, Wouters MC, Van der Auwera I, Peeters DJ, Wildiers H, Van Dam PA, Vergote I, Vermeulen PB, Dirix LY, Van Laere SJ. Expression profiling of cancerous and normal breast tissues identifies microRNAs that are differentially expressed in serum from patients with (metastatic) breast cancer and healthy volunteers. Breast Cancer Res 2012;14:R34.
235. Verghese ET, Hanby AM, Speirs V, Hughes TA. Small is beautiful: microRNAs and breast cancer-where are we now? J Pathol 2008;215:214-221.
236. Verweij EJ, Jacobsson B, van Scheltema PA, de Boer MA, Hoffer MJ, Hollemon D, Westgren M, Song K, Oepkes D. European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn 2013;33:996-1001.
237. Vickers KC, Palmisano BT, Shoucri BM, Shamburek RD, Remalay AT. MicroRNAs are transported in plasma and delivered to recipient cells by high-density lipoproteins. Nat Cell Biol 2011;13:423-433.
238. Visser JA, de Jong FH, Laven JS, Themmen AP. Anti-Mullerian hormone: a new marker for ovarian function. Reproduction 2006;131:1-9.
239. Vora NL, Johnson KL, Basu S, Catalano PM, Hauguel-De Mouzon S, Bianchi DW. A multifactorial relationship exists between total circulating cell-free DNA levels and maternal BMI. Prenat Diagn 2012;32:912-914.
240. Walsh JM, Goldberg JD. Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment. Prenat Diagn 2013;33:514-520.
241. Wang F, Zheng Z, Guo J, Ding X. Correlation and quantitation of microRNA aberrant expression in tissues and sera from patients with breast tumor. Gynecol Oncol 2010a; 119:586-593.
242. Wang GK, Zhu JQ, Zhang JT, LiQ, Li Y,He J, QinYW, Jing Q. Circulating microRNA: a novel potential biomarker for early diagnosis of acute myocardial infarction in humans. Eur Heart J 2010b;31:659-666.
243. Wang JF, Yu ML, Yu G, Bian JJ, Deng XM, Wan XJ, Zhu KM. Serum miR-146a and miR-223 as potential new biomarkers for sepsis. Biochem Biophys Res Commun 2010c;394:184-188.
244. Wang K, Zhang S, Weber J, Baxter D, Galas DJ. Export of microRNAs and microRNA-protective protein by mammalian cells. Nucleic Acids Res 2010d; 38:7248-7259.
245. Wang SJ,GaoZY, LuYP, Li YL, YouYQ,Zhang LW,Wang LX,XuH. Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities. Zhonghua Fu Chan Ke Za Zhi 2012a;47:808-812.
246. Wang X, Wu X, Yan L, Shao J. Serum miR-103 as a potential diagnostic biomarker for breast cancer. Nan Fang Yi Ke Da Xue Xue Bao 2012b;32:631-634.
247. Wang XW, Heegaard NH, Orum H. MicroRNAs in liver disease. Gastroenterology 2012c;142:1431-1443.
248. Wang PY, Gong HT, Li BF, Lv CL,Wang HT, Zhou HH, Li XX, Xie SY, Jiang BF. Higher expression of circulating miR-182 as a novel biomarker for breast cancer. Oncol Lett 2013a;6:1681-1686.
249. Wang WT, Zhao YN, Han BW, Hong SJ, Chen YQ. Circulating microRNAsidentified in a genome-wide serum microRNA expression analysis as noninvasive biomarkers for endometriosis. J Clin Endocrinol Metab 2013b;98:281-289.
250. Wataganara T, BianchiDW. Fetal cell-free nucleic acids in the maternal circulation: new clinical applications. Ann N Y Acad Sci 2004;1022:90-99.
251. Wataganara T, LeShane ES, Farina A, Messerlian GM, Lee T, Canick JA, Bianchi DW. Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18. Hum Genet 2003;112:204-208.
252. Webb RL, Murphy MP. b-secretases, Alzheimer's disease, and Down syndrome. Curr Gerontol Geriatr Res 2012;2012:362839.
253. Weber JA, Baxter DH, Zhang S, Huang DY, Huang KH, Lee MJ, Galas DJ,Wang K. The microRNA spectrum in 12 body fluids. Clin Chem 2010;56:1733-1741.
254. Weenen C, Laven JS, Von Bergh AR, Cranfield M, Groome NP, Visser JA, Kramer P, Fauser BC, Themmen AP. Anti-Mullerian hormone expression pattern in the human ovary: potential implications for initial and cyclic follicle recruitment. Mol Hum Reprod 2004;10:77-83.
255. Weiler J, Hunziker J, Hall J. Anti-miRNA oligonucleotides (AMOs): ammunition to target miRNAs implicated in human disease? Gene Ther 2006;13:496-502.
256. Wilfred BR,Wang WX,Nelson PT. Energizing miRNA research: a reviewof the role of miRNAs in lipid metabolism, with a prediction that miR-103/107 regulates human metabolic pathways. Mol Genet Metab 2007;91:209-217.
257. Wong SS, Ritner C, Ramachandran S, Aurigui J, Pitt C, Chandra P, Ling VB, Yabut O, Bernstein HS. miR-125b promotes early germ layer specification through Lin28/ let-7d and preferential differentiation of mesoderm in human embryonic stem cells. PLoS ONE 2012;7:e36121.
258. Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 2009;15:139-151.
259. Wright CF,Wei Y, Higgins JP, Sagoo GS. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes 2012; 5:476.
260. Wu Q, Lu Z, Li H, Lu J, Guo L, Ge Q. Next-generation sequencing of microRNAs for breast cancer detection. J Biomed Biotechnol 2011;2011:597145.
261. WuL, Zhou H, Lin H, Qi J, Zhu C,GaoZ,Wang H. Circulating microRNAs are elevated in plasma from severe preeclamptic pregnancies. Reproduction 2012;143:389-397.
262. Wu C, Ding X, Li H, Zhu C, Xiong C. Genome-wide promoter methylation profile of human testis and epididymis: identified from cell-free seminal DNA. BMC Genomics 2013a;14:288.
263. Wu H, Xiao Z,Wang K, LiuW, Hao Q. MiR-145 is downregulated in human ovarian cancer and modulates cell growth and invasion by targeting p70S6K1 and MUC1. Biochem Biophys Res Commun 2013b;441:693-700.
264. Xie H, Lim B, Lodish HF. MicroRNAs induced during adipogenesis that accelerate fat cell development are downregulated in obesity. Diabetes 2009;58:1050-1057.
265. Xu S, Linher-Melville K, Yang BB,Wu D, Li J. Micro-RNA378 (miR-378) regulates ovarian estradiol production by targeting aromatase. Endocrinology 2011a;152:3941-3951.
266. Xu YW,Wang B, Ding CH, Li T, Gu F, Zhou C. Differentially expressed micoRNAs in human oocytes. J Assist Reprod Genet 2011b;28:559-566.
267. Yan G, Zhang L, Fang T, Zhang Q, Wu S, Jiang Y, Sun H, Hu Y. MicroRNA-145 suppresses mouse granulosa cell proliferation by targeting activin receptor IB. FEBS Lett 2012;586:3263-3270.
268. Yang Y, Bai W, Zhang L, Yin G, Wang X, Wang J, Zhao H, Han Y, Yao YQ. Determination of microRNAs in mouse preimplantation embryos by microarray. Dev Dyn 2008;237:2315-2327.
269. Yang X, Zhou Y, Peng S, Wu L, Lin HY, Wang S, Wang H. Differentially expressed plasma microRNAs in premature ovarian failure patients and the potential regulatory function of mir-23a in granulosa cell apoptosis. Reproduction 2012; 144:235-244.
270. Yang S,Wang S, Luo A, DingT, Lai Z, ShenW,MaX,CaoC, Shi L, Jiang J et al. Expression patterns and regulatory functions of microRNAs during the initiation of primordial follicle development in the neonatal mouse ovary. Biol Reprod 2013;89:126.
271. Yao N, Lu CL, Zhao JJ, Xia HF, Sun DG, Shi XQ,Wang C, Li D, Cui Y, Ma X. Anetwork of miRNAs expressed in the ovary are regulated by FSH. Front Biosci (Landmark Ed) 2009;14:3239-3245.
272. YaoG, Yin M, Lian J, Tian H, Liu L, Li X, Sun F. MicroRNA-224 is involved in transforming growth factor-beta-mediated mouse granulosa cell proliferation and granulosa cell function by targeting Smad4. Mol Endocrinol 2010a;24:540-551.
273. Yao N, Yang BQ, Liu Y, Tan XY, Lu CL, Yuan XH, Ma X. Follicle-stimulating hormone regulation of microRNA expression on progesterone production in cultured rat granulosa cells. Endocrine 2010b;38:158-166.
274. Yi R, Qin Y, Macara IG, Cullen BR. Exportin-5 mediates the nuclear export of pre-microRNAs and short hairpin RNAs. Genes Dev 2003;17:3011-3016.
275. Yin M, Lu M, Yao G, Tian H, Lian J, Liu L, Liang M,Wang Y, Sun F. Transactivation of microRNA-383 by steroidogenic factor-1 promotes estradiol release from mouse ovarian granulosa cells by targeting RBMS1. Mol Endocrinol 2012;26:1129-1143.
276. Zachariah RR, Schmid S, Buerki N, Radpour R, Holzgreve W, Zhong X. Levels of circulating cell-free nuclear and mitochondrial DNA in benign and malignant ovarian tumors. Obstet Gynecol 2008;112:843-850.
277. Zen K, Zhang CY. Circulating microRNAs: a novel class of biomarkers to diagnose and monitor human cancers. Med Res Rev 2012;32:326-348.
278. Zeng RC, Zhang W, Yan XQ, Ye ZQ, Chen ED, Huang DP, Zhang XH, Huang GL. Down-regulation of miRNA-30a in human plasma is a novel marker for breast cancer. Med Oncol 2013;30:477.
279. Zernecke A, Bidzhekov K, Noels H, Shagdarsuren E, Gan L, Denecke B, Hristov M, Köppel T, Jahantigh MN, Lutgens E et al. Delivery of microRNA-126 by apoptotic bodies induces CXCL12-dependent vascular protection. Sci Signal 2009;8:2.
280. Zhang Y, Liu D, Chen X, Li J, Li L, Bian Z, Sun F, Lu J, Yin Y, Cai X et al. Secreted monocytic miR-150 enhances targeted endothelial cell migration. Mol Cell 2010; 39:133-144.
281. Zhang J, Ji X,Zhou D, LiY, Lin J, Liu J, Luo H, Cui S.miR-143 is critical for the formation of primordial follicles in mice. Front Biosci (Landmark Ed) 2013a;18:588-597.
282. Zhang Q, Hu G, Yang Q, Dong R, Xie X, Ma D, Shen K, Kong B. A multiplex methylation-specific PCR assay for the detection of early-stage ovarian cancer using cell-free serum DNA. Gynecol Oncol 2013b;130:132-139.
283. Zhang Q, Liu H, McGee J, Walsh EJ, Soukup GA, He DZ. Identifying microRNAs involved in degeneration of the organ of corti during age-related hearing loss. PLoS ONE 2013c;8:e62786.
284. Zhao H, Rajkovic A. MicroRNAs and mammalian ovarian development. Semin Reprod Med 2008;26:461-468.
285. Zhao Z, Zhao Q, Warrick J, Lockwood CM, Woodworth A, Moley KH, Gronowski AM. Circulating microRNA miR-323-3p as a biomarker of ectopic pregnancy. Clin Chem 2012;58:896-905.
286. Zheng H, Zhang L, Zhao Y, Yang D, Song F,Wen Y, Hao Q, Hu Z, ZhangW, Chen K. Plasma miRNAs as diagnostic and prognostic biomarkers for ovarian cancer. PLoS ONE 2013;8:e77853.
287. Zhong XY, Burk MR, Troeger C, Kang A, HolzgreveW, Hahn S. Fluctuation of maternal and fetal free extracellular circulatoryDNAin maternal plasma. Obstet Gynecol 2000; 96:991-996.
288. Zhong XY, Laivuori H, Livingston JC, Ylikorkala O, Sibai BM, Holzgreve W, Hahn S. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am J Obstet Gynecol 2001;184:414-419.
289. Zhong XY, Holzgreve W, Hahn S. The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens Pregnancy 2002;21:77-83.
290. Zimmermann BG, Maddocks DG, Avent ND. Quantification of circulatory fetal DNA in the plasma of pregnant women. Methods Mol Biol 2008;444:219-229.
291. Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, Ryan A, Sigurjonsson S, Chopra N, Dodd M et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-1241.
292. Zubakov D, Boersma AW, Choi Y, van Kuijk PF, Wiemer EA, Kayser M. MicroRNA markers for forensic body fluid identification obtained from microarray screening and quantitative RT-PCR confirmation. Int J Legal Med 2010;124:217-226.