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Results: 1 to 20 of 23

1.

Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels.

Brendel C, Mielke B, Hillebrand M, Gärtner J, Huppke P.

J Neurodev Disord. 2013 Sep 10;5(1):23. doi: 10.1186/1866-1955-5-23.

PMID:
24020679
[PubMed]
Free PMC Article
2.

Role of CTCF protein in regulating FMR1 locus transcription.

Lanni S, Goracci M, Borrelli L, Mancano G, Chiurazzi P, Moscato U, Ferrè F, Helmer-Citterich M, Tabolacci E, Neri G.

PLoS Genet. 2013;9(7):e1003601. doi: 10.1371/journal.pgen.1003601. Epub 2013 Jul 18.

PMID:
23874213
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Bidirectional transcription of trinucleotide repeats: roles for excision repair.

Budworth H, McMurray CT.

DNA Repair (Amst). 2013 Aug;12(8):672-84. doi: 10.1016/j.dnarep.2013.04.019. Epub 2013 May 11. Review.

PMID:
23669397
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics.

Bagni C, Tassone F, Neri G, Hagerman R.

J Clin Invest. 2012 Dec 3;122(12):4314-22. doi: 10.1172/JCI63141. Epub 2012 Dec 3.

PMID:
23202739
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.55. Epub 2011 May 4. No abstract available.

PMID:
21540884
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Chen L, Hadd AG, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ.

Genet Med. 2011 Jun;13(6):528-38. doi: 10.1097/GIM.0b013e31820a780f.

PMID:
21430544
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.

Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W.

Am J Hum Genet. 2009 Nov;85(5):606-16. doi: 10.1016/j.ajhg.2009.09.018. Epub 2009 Oct 22. Erratum in: Am J Hum Genet. 2010 Jan;86(1):98-100.

PMID:
19853235
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

FMR1: a gene with three faces.

Oostra BA, Willemsen R.

Biochim Biophys Acta. 2009 Jun;1790(6):467-77. doi: 10.1016/j.bbagen.2009.02.007. Epub 2009 Feb 21. Review.

PMID:
19233246
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.

Biacsi R, Kumari D, Usdin K.

PLoS Genet. 2008 Mar 7;4(3):e1000017. doi: 10.1371/journal.pgen.1000017.

PMID:
18369442
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, Nelson DL, Oostra BA, Willemsen R.

Exp Cell Res. 2007 Jan 15;313(2):244-53. Epub 2006 Oct 13.

PMID:
17150213
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene.

Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E.

Mol Cell Biol. 2007 Jan;27(2):426-37. Epub 2006 Nov 13.

PMID:
17101793
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations.

Primerano B, Tassone F, Hagerman RJ, Hagerman P, Amaldi F, Bagni C.

RNA. 2002 Dec;8(12):1482-8.

PMID:
12515381
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine.

Pietrobono R, Pomponi MG, Tabolacci E, Oostra B, Chiurazzi P, Neri G.

Nucleic Acids Res. 2002 Jul 15;30(14):3278-85.

PMID:
12136110
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W.

Nucleic Acids Res. 2000 May 15;28(10):2141-52.

PMID:
10773084
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ.

Am J Hum Genet. 2000 Jan;66(1):6-15.

PMID:
10631132
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.

Burman RW, Yates PA, Green LD, Jacky PB, Turker MS, Popovich BW.

Am J Hum Genet. 1999 Nov;65(5):1375-86.

PMID:
10521303
[PubMed - indexed for MEDLINE]
Free PMC Article
17.
18.

Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.

Wöhrle D, Salat U, Gläser D, Mücke J, Meisel-Stosiek M, Schindler D, Vogel W, Steinbach P.

J Med Genet. 1998 Feb;35(2):103-11.

PMID:
9507388
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Losekoot M, Hoogendoorn E, Olmer R, Jansen CC, Oosterwijk JC, van den Ouweland AM, Halley DJ, Warren ST, Willemsen R, Oostra BA, Bakker E.

J Med Genet. 1997 Nov;34(11):924-6.

PMID:
9391887
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Characterization of FMR1 promoter elements by in vivo-footprinting analysis.

Schwemmle S, de Graaff E, Deissler H, Gläser D, Wöhrle D, Kennerknecht I, Just W, Oostra BA, Döerfler W, Vogel W, Steinbach P.

Am J Hum Genet. 1997 Jun;60(6):1354-62. Erratum in: Am J Hum Genet. 2004 Mar;74(3):598. Dörfler W [corrected to Döerfler W].

PMID:
9199556
[PubMed - indexed for MEDLINE]
Free PMC Article

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