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Items: 1 to 20 of 391

1.

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

La Spada AR, Peterson KR, Meadows SA, McClain ME, Jeng G, Chmelar RS, Haugen HA, Chen K, Singer MJ, Moore D, Trask BJ, Fischbeck KH, Clegg CH, McKnight GS.

Hum Mol Genet. 1998 Jun;7(6):959-67.

PMID:
9580659
2.

In vivo expansion of trinucleotide repeats yields plasmid and YAC constructs for targeting and transgenesis.

Sopher BL, Myrick SB, Hong JY, Smith AC, La Spada AR.

Gene. 2000 Dec 31;261(2):383-90.

PMID:
11167027
3.

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.

Koshy BT, Zoghbi HY.

Brain Pathol. 1997 Jul;7(3):927-42. Review.

PMID:
9217976
4.
5.

Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.

Thomas PS Jr, Fraley GS, Damian V, Woodke LB, Zapata F, Sopher BL, Plymate SR, La Spada AR.

Hum Mol Genet. 2006 Jul 15;15(14):2225-38. Epub 2006 Jun 13. Erratum in: Hum Mol Genet. 2006 Oct 1;15(19):2972. Damien, Vincent [corrected to Damian, Vincent].

PMID:
16772330
6.

A SCA7 CAG/CTG repeat expansion is stable in Drosophila melanogaster despite modulation of genomic context and gene dosage.

Jackson SM, Whitworth AJ, Greene JC, Libby RT, Baccam SL, Pallanck LJ, La Spada AR.

Gene. 2005 Feb 28;347(1):35-41.

PMID:
15715978
7.

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice.

Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR.

Hum Mol Genet. 2003 Jan 1;12(1):41-50.

PMID:
12490531
8.

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice.

Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, Garbern JY, Merry DE, Fischbeck KH.

Nat Genet. 1995 Feb;9(2):191-6. Erratum in: Nat Genet 1995 Jun;10(2):249.

PMID:
7719348
9.

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH.

Nat Genet. 1992 Dec;2(4):301-4.

PMID:
1303283
10.
11.

Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

Spiegel R, La Spada AR, Kress W, Fischbeck KH, Schmid W.

Hum Mutat. 1996;8(1):32-7.

PMID:
8807333
12.

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.

Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JL.

Hum Mol Genet. 1992 Jul;1(4):255-8.

PMID:
1303195
13.

Somatic mosaicism of androgen receptor CAG repeats in colorectal carcinoma epithelial cells from men.

Di Fabio F, Alvarado C, Gologan A, Youssef E, Voda L, Mitmaker E, Beitel LK, Gordon PH, Trifiro M.

J Surg Res. 2009 Jun 1;154(1):38-44. doi: 10.1016/j.jss.2008.05.013. Epub 2008 Jun 11.

PMID:
19062046
14.

A mouse model of spinal and bulbar muscular atrophy.

McManamny P, Chy HS, Finkelstein DI, Craythorn RG, Crack PJ, Kola I, Cheema SS, Horne MK, Wreford NG, O'Bryan MK, De Kretser DM, Morrison JR.

Hum Mol Genet. 2002 Sep 1;11(18):2103-11.

PMID:
12189162
15.

CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation.

Neuschmid-Kaspar F, Gast A, Peterziel H, Schneikert J, Muigg A, Ransmayr G, Klocker H, Bartsch G, Cato AC.

Mol Cell Endocrinol. 1996 Mar 25;117(2):149-56.

PMID:
8737374
16.

Somatic instability of the androgen receptor CAG repeat in a normal female.

Sharp A, Hurst J.

Am J Med Genet A. 2003 Mar 1;117A(2):161-3.

PMID:
12567414
17.

Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA).

Katsuno M, Adachi H, Inukai A, Sobue G.

Cytogenet Genome Res. 2003;100(1-4):243-51. Review.

PMID:
14526186
18.

Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration.

Sopher BL, Thomas PS Jr, LaFevre-Bernt MA, Holm IE, Wilke SA, Ware CB, Jin LW, Libby RT, Ellerby LM, La Spada AR.

Neuron. 2004 Mar 4;41(5):687-99.

19.

Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia.

Patrizio P, Leonard DG, Chen KL, Hernandez-Ayup S, Trounson AO.

J Androl. 2001 May-Jun;22(3):444-8.

20.

Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy.

Katsuno M, Adachi H, Kume A, Li M, Nakagomi Y, Niwa H, Sang C, Kobayashi Y, Doyu M, Sobue G.

Neuron. 2002 Aug 29;35(5):843-54.

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