Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. (Articolo in rivista) (literal)

Anno

• 2006-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1093/humrep/dei432 (literal)

Alternative label

• Bodega B; Bione S; Dalpra L; Toniolo D; Ornaghi F; Vegetti W; Ginelli E; Marozzi A. (2006)
  Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
  in Human reproduction (Oxf., Print); Oxford University Press, Oxford (Regno Unito)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Bodega B; Bione S; Dalpra L; Toniolo D; Ornaghi F; Vegetti W; Ginelli E; Marozzi A. (literal)

Pagina inizio

• 952 (literal)

Pagina fine

• 957 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• Original contribution; not a review. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://humrep.oxfordjournals.org/content/21/4/952.long (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 21 (literal)

Rivista

• Human reproduction (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

• REVIEW (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 6 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 4 (literal)

Note

• PubMe (literal)
• Scopu (literal)
• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Dept. of Biology and Genetics for Medical Sciences, University of Milan, Milan, Italy; Institute of Molecular Genetics, CNR, Pavia, Italy; DIBIT, San Raffaele Scientific Institute, Milan, Italy; Department of Experimental, Environmental Medicine, University Milan-Bicocca, Monza, Italy; Zambon Farmaceutici S.p.a. Research Laboratories, Milan, Italy (literal)

Titolo

• Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. (literal)

Abstract

• BACKGROUND: Studies attempting to precisely define the range of fragile mental retardation 1 (FMR1) expansions and its inf luence in premature ovarian failure (POF) manifestation are partially lacking. To this aim, we evaluated a large cohort of POF patients for the size and, in selected cases, for the sequence of the CGG expansion. Furthermore, the correlation between POF and X-inactivation was investigated in FRAXA families. METHODS: By fluorescent PCR, 190 POF and 200 control women were sized for the CGG tract; some subjects were also characterized by sequencing and for the FMR1 activation ratio. RESULTS AND CONCLUSION: We found a significant association (19/190, 10%, P < 1 x 10(-6)) between POF and FMR1 premutation (range 63-163 repeats) and a significant enrichment (9/190, 4.7%, P = 0.021) of POF carriers of intermediate expansions (range 41-58 repeats). Interestingly, intermediate alleles were entirely composed of CGG repeats. Furthermore, the analysis of three pairs of siblings with similar FMR1 expansions and discordant for the POF phenotype showed a direct correlation between the expression of the intermediate/premutated allele and POF manifestation. The results obtained strengthen the correlation between FMR1 expansion and POF and suggest that the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation. (literal)

Editore

• Oxford University Press (Editore)

Prodotto di

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR

• SILVIA BIONE (Unità di personale interno)
• DANIELA TONIOLO (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• SILVIA BIONE (Unità di personale interno)
• DANIELA TONIOLO (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human reproduction (Rivista)

Editore di

• Oxford University Press (Editore)

Insieme di parole chiave di

• Keywords of "Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation." (Insieme di parole chiave)