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Bennet CE, Conway GS, Macperson JN, Jacobs PA, Murray A. Intermediate sized CGG repeats are not a common cause of idiopatic Premature ovarian failure. Hum Reprod.

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Bibliografia

Allingam-Hawkins Dj, Babul Hirji R, Chitayat D, Holden JJ, Yang KT, Lee C. Fragile X premutation is a significant risk factor for premature ovarian failure: the international Collaborative POF in fragile X study-preliminary data. Am.j.Med Genet. 1995; 83: 322- 330.

Bachner, D., Manca, A., Steinbach, P. Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum. Mol. Genet.1993; 12, 2043–2050.

Bennet CE, Conway GS, Macperson JN, Jacobs PA, Murray A. Intermediate sized CGG repeats are not a common cause of idiopatic Premature ovarian failure. Hum Reprod.

2010; 25: 1335-8.

Bodega B, Bione S, Dalpra L. Influence of Intermediate and Uninterrupted FMR1 CGG Expansions in Premature Ovarian Failure Manifestation, Hum. Reprod. 2006; 21: 952–

957.

Bretherick, K.L., Fluker, M.R, Robinson W.P. FMR1 Repeat Sizes in the Gray Zone and High End of the Normal Range Are Associated with Premature Ovarian Failure.

Hum. Genet. 2005; 4: 376–382.

Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. 1992; Cell.68(4):799–808.

Bussani C, Papi L, Sestini R, Baldinotti F, Bucciantini S, Bucciantini S, Bruni V, Scarselli G. Premature ovarian failure and fragile X premutation: a study on 45 women.

Eur j Obstet Gynecol Reprod Biol.2004; 112: 189-91.

(2)

82 Chang S.J., Chang-Lin S, Donald C. Chang, Chen Pu Chang, Shi-Lung Lin, Shao-Yao Ying. Repeat-Associated MicroRNAs Trigger Fragile X Mental Retardation- Like Syndrome in Zebrafish. The Open Neuropsychopharmacology Journal. 2008; 1: 6-18

Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J. An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. J Mol Diagn. 2010; 12: 589–600.

Claire E. Bennett, Gerard S. Conway, James N. Macpherson, Patricia A. Jacobs, Anna Murray. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum. Reprod. 2010; 5: 1335–1338.

Conway, G.S., Payne, N.N., Webb, J., Murray, A. and Jacobs, P.A. Fragile X premutation screening in women with premature ovarian failure. Hum. Reprod.1998;

13: 1184-1187.

Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL. Fragile X CGG repeat structures among African-Americans: Identification of a novel factor responsible for repeat instability. Hum Mol Genet. 2000; 9: 1759– 1769.

Davison R.M, Fox M, Conway G. Mapping for the POF1 locus and identification of putuative genes for premature ovarian failure manifestation. Mol.Hum.Reprod. 2000;

l6:314- 318.

Dombrowski C, Levesque S, Morel ML, Rouillard P, Morgan K, Rousseau F.

Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet. 2000; 11: 371– 378.

Eichler E. E., Hammond H. A., Macpherson J. N., Ward P. A. and Nelson D.L.

Population survey of the human FMR1 CGG repeat substructure suggests biased

polarity for the loss of AGG interruptions. Hum. Mol. Genet. 1995; 4: 2199–2208.

(3)

83 Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick R, Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell.1991; 67:1047–1058.

Gersak K., Meden-Vrtovec E., Peterlin Borut. Fragile X premutation in women with sporadic premature ovarian failure in Slovenia. Human Reprod.2003; 18: 1637±1640.

Gleicher N, Weghofer A, Oktay K, Barad DH. Correlation of triple repeats on the FMR1 (fragile X) gene to ovarian reserve: a new infertility test? Acta Obstet Gynecol Scand. 2008; 8:1024– 1030.

Gleicher.N., Barad D. The FMR1 Gene as Regulator of Ovarian Recruitment and Ovarian Reserve. Obstetrical & Gynecological Survey. 2010; 65(8):523-530

Gleicher N., Barad D. Can the FMR1 gene predict early ovarian aging? Future medicine. 2010; 6(2): 165-169.

Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology.

2001; 57: 127–130.

Hundscheid, R.D.L., Sistermans, E.A., Thomas, C.M.G., Braat, D.D.M., Straatman, H., Kiemeney, L.A.L.M., Oostra, B.A. and Smits, A.P.T. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. Am. J. Hum.

Genet.2000; 66: 413–418.

Johnston-MacAnanny EB, Koty P, Pettenati M, Brady M, Yalcinkaya TM, Schmidt DW. (2011). The first case described: monozygotic twin sisters with the fragile X premutation but with a different phenotype for premature ovarian failure. Fertil. Steril.

95 (7): 2431 e 13-5.

Knowles RB, Sabry JH, Martone ME, Deerinck TJ, Ellisman MH, Bassell GJ, Kosik

KS. Translocation of RNA granules in living neurons. J Neurosci. 1996;16:7812–7820.

(4)

84 Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia. Nat Genet.1999; 21:379–84.

Loesch DZ, Quang BM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F.

Transcript levels of the intermediate size or gray zone FMR1 alleles are elevated, and correlate with the number of CGG repeats. J Med Genet. 2007; 44: 200-204.

Marozzi A, Vegetti W, Manfredini E, Tibiletti MG, Testa G, Crosignani PG, Ginelli E, Meneveri R & Dalpra` L. Association between idiopathic premature ovarian failure and fragile X premutation. Hum. Reprod.2000; 15: 197–202.

McConkie-Rosell A, Lachiewicz A, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewardena P, Ding X, Brown WT. Evidence that methylation of the FMR1 locus is responsible for variant phenotypic expression of the fragile X syndrome.

Am J Hum Genet. 1993; 53: 800– 809.

Murray, A., Ennis, S. and Morton, N. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. Am. J. Hum. Genet.2000;

67: 253–254.

Napierala M, Michalowski D, de Mezer M, Krzyzosiak WJ. Facile FMR1 mRNA structure regulation by interruptions in CGG repeats. Nucleic Acids Res. 2005;

33:451-63.

NolinSL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Brondum-Nielsen K, Hjalgrim H, Holinski-Feder E. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet.2003;

72:454–464.

Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF and

Mandel JL. Instability of a 550-base pair DNA segment and abnormal methylation in

fragile X syndrome. Science. 1991; 252:1097-1102.

(5)

85 Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta. 2009;

1790: 467– 477.

Partington MW, Moore DY. Turner GM Confirmation of early menopause in fragile X carriers. Am J Med Genet. 1996; 64:370– 372.

Persani L, Rossetti R, Cacciatore C. Genes involved in human premature ovarian failure. J Mol Endocrinol. 2010; 45 257-279.

Pearson Christopher E., Kerrie Nichol Edamura, John D.Cleary Repeat instability:

mechanisms of dynamic mutations. Nature Reviews Genetics. 2002; 6: 729–742.

Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, Barkai G. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn. 2000; 20:611–

614.

Richard E, Lutz MD. Trinucleotide Repeat Disorders. Semin Pediatr Neurol. 2007;

14:26-33.

Rizzolio F, Bione S, Sala C, Goegan M, Gentile M, Gregato G, Rossi E, Pramparo T, Zuffardi O, Toniolo D. Chromosomal rearrangements in Xq and premature ovarian failure: Mapping of 25 new cases and review of the literature. Hum Reprod. 2006;

21:1477–1483.

Schwartz, C.E., Dean, J., Howard-Peebles, P.N., Bugge, M., Mikkelsen, M.,Tommerup, N., Hull, C. Obstetrical and gynaecological complications in fragile X carriers:

Multicenter study. Am. J. Med. Genet.; 1994. 51, 400-402.

Sherman, S.L. Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet., 97, 189–194. European Molecular Biology Organization Journal. 2000; 20: 4803-4813.

Sinden RR, Potaman VN, Oussatcheva EA, Pearson CE, Lyubchenko YL,

Shlyakhtenko LS. Triplet repeat DNA structures and human genetic disease: dynamic

mutations from dynamic DNA.J Biosci.2002; 27:53–65.

(6)

86 Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

Am J Hum Genet. 1993; 53:1217–1228.

Sullivan AK, Crawford DC, Scott EH, Leslie ML, Sherman SL. Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet. 2002;70:1532-1544.

Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, Yadav- Shah M, Sherman SL. Association of FMR1 repeat size with ovarian dysfunction. Hum. Reprod.

2005; 20,402–412.

Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile-X syndrome. Am J Hum Genet. 2000; 66: 6–15.

Tassone, F., Hagerman, R. J., Taylor, A. K., Mills, J. B., Harris, S. W.Gane, L. W.

Clinical involvement and protein expression in individuals with the FMR1 premutation.

Am J Med Genet. 2000; 91: 144–152.

Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA. 2007; 13: 555–562.

Toniolo D, Rizzolio F, Sala C.,Alboresi S, Bione S,·Gilli S, Goegan M, Pramparo T.

Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. Hum Genet. 2007; 121:441–450

Turner G, Webb T, Wake S, Robinson H. The prevalence of the fragile X syndrome.

Am J Med Genet. 1996; 64:196–197.

Uzielli MLG, Guarducci EL, Lapi E, Cecconi A, Ricci U, Ricotti G, Biondi C, Scarselli

B, Vieri F, Scarnato P, Gori F, Sereni A. Premature ovarian failure (POF) and fragile X

premutation females: From POF to fragile X carrier identification, from fragile X carrier

diagnosis to POF association data. Am J Med Genet. 1999; 84:300–303.

(7)

87 Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991; 5:905–914.

Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, Corrigan EC, Simpson JL, Nelson LM. The FMR1 premutation and reproduction.

Fertility and Sterility 2007; 87: 456–465.

Yong-Hong Yi, Xun-Sha Sun

1

, Jia-Ming Qin, Qi-Hua Zhao, Wei-Ping Liao, Yue- Sheng. Long. Experimental identification of microRNA targets on the 3′ untranslated region of human FMR1 gene. J of Neur.Meth.2010; 190(1): 34-38.

Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F. The Role of AGG Interruptions in the Transcription of FMR1 Premutation Alleles. PLoS ONE. 2011; 6(7):

21728-32.

Zhenzhong Li, Youyi Zhang, Li Ku, Keith D Wilkinson, Stephen T Warren, Yue Feng.

The fragile X mental retardation protein inhibits translation via interacting with mRNA.

Nucleic Acids Research. 2001; 29 (11):2276-2283.

Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL. Evidence for a Turner syndrome locus or loci at Xp11.2–

p22.1. Am. J. Hum. Genet. 1998; 63 1757–1766.

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