-
1
-
-
0033978170
-
Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1
-
Alakurtti, K., Virtaneva, K., Joensuu, T., Palvimo, J.J., and Lehesjoki, A.E. 2000. Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1. Gene 242: 65-73.
-
(2000)
Gene
, vol.242
, pp. 65-73
-
-
Alakurtti, K.1
Virtaneva, K.2
Joensuu, T.3
Palvimo, J.J.4
Lehesjoki, A.E.5
-
2
-
-
19444364594
-
The other trinucleotide repeat: Polyalanine expansion disorders
-
Albrecht, A. and Mundlos, S. 2005. The other trinucleotide repeat: Polyalanine expansion disorders. Curr. Opin. Genet. Dev. 15: 285-293.
-
(2005)
Curr. Opin. Genet. Dev
, vol.15
, pp. 285-293
-
-
Albrecht, A.1
Mundlos, S.2
-
3
-
-
43249096550
-
n alleles at the SHBG gene promoter for the severity of coronary artery disease in postmenopausal women
-
n alleles at the SHBG gene promoter for the severity of coronary artery disease in postmenopausal women. Menopause 15: 461-468.
-
(2008)
Menopause
, vol.15
, pp. 461-468
-
-
Alevizaki, M.1
Saltiki, K.2
Xita, N.3
Cimponeriu, A.4
Stamatelopoulos, K.5
Mantzou, E.6
Doukas, C.7
Georgiou, I.8
-
4
-
-
3242712112
-
BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function
-
Arlt, M.F., Xu, B., Durkin, S.G., Casper, A.M., Kastan, M.B., and Glover, T.W. 2004. BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function. Mol. Cell. Biol. 24: 6701-6709.
-
(2004)
Mol. Cell. Biol
, vol.24
, pp. 6701-6709
-
-
Arlt, M.F.1
Xu, B.2
Durkin, S.G.3
Casper, A.M.4
Kastan, M.B.5
Glover, T.W.6
-
5
-
-
33748623634
-
Common fragile sites as targets for chromosome rearrangements
-
Arlt, M.F., Durkin, S.G., Ragland, R.L., and Glover, T.W. 2006. Common fragile sites as targets for chromosome rearrangements. DNA Repair (Amst.) 5: 1126-1135.
-
(2006)
DNA Repair (Amst.)
, vol.5
, pp. 1126-1135
-
-
Arlt, M.F.1
Durkin, S.G.2
Ragland, R.L.3
Glover, T.W.4
-
6
-
-
28744442194
-
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
-
Arocena, D.G., Iwahashi, C.K., Won, N., Beilina, A., Ludwig, A.L., Tassone, F., Schwartz, P.H., and Hagerman, P.J. 2005. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum. Mol. Genet. 14: 3661-3671.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 3661-3671
-
-
Arocena, D.G.1
Iwahashi, C.K.2
Won, N.3
Beilina, A.4
Ludwig, A.L.5
Tassone, F.6
Schwartz, P.H.7
Hagerman, P.J.8
-
7
-
-
0034017208
-
CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae
-
Balakumaran, B.S., Freudenreich, C.H., and Zakian, V.A. 2000. CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae. Hum. Mol. Genet. 9: 93-100.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 93-100
-
-
Balakumaran, B.S.1
Freudenreich, C.H.2
Zakian, V.A.3
-
8
-
-
33644830913
-
Differential contributions of Caenorhabditis elegans histone deacetylases to huntingtin polyglutamine toxicity
-
Bates, E.A., Victor, M., Jones, A.K., Shi, Y., and Hart, A.C. 2006. Differential contributions of Caenorhabditis elegans histone deacetylases to huntingtin polyglutamine toxicity. J. Neurosci. 26: 2830-2838.
-
(2006)
J. Neurosci
, vol.26
, pp. 2830-2838
-
-
Bates, E.A.1
Victor, M.2
Jones, A.K.3
Shi, Y.4
Hart, A.C.5
-
9
-
-
1542359463
-
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
-
Beilina, A., Tassone, F., Schwartz, P.H., Sahota, P., and Hagerman, P.J. 2004. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum. Mol. Genet. 13: 543-549.
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 543-549
-
-
Beilina, A.1
Tassone, F.2
Schwartz, P.H.3
Sahota, P.4
Hagerman, P.J.5
-
10
-
-
41949125454
-
-
Biacsi, R., Kumari, D., and Usdin, K. SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet. 4: e1000017. doi: 10.1371/journal.pgen.1000017.
-
Biacsi, R., Kumari, D., and Usdin, K. SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet. 4: e1000017. doi: 10.1371/journal.pgen.1000017.
-
-
-
-
11
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani, S.I., Ashizawa, T., and Patel, P.I. 1998. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 62: 111-121.
-
(1998)
Am. J. Hum. Genet
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
12
-
-
34548329696
-
The two most common alleles of the coding GGN repeat in the androgen receptor gene cause differences in protein function
-
Brockschmidt, F.F., Nothen, M.M., and Hillmer, A.M. 2007. The two most common alleles of the coding GGN repeat in the androgen receptor gene cause differences in protein function. J. Mol. Endocrinol. 39: 1-8.
-
(2007)
J. Mol. Endocrinol
, vol.39
, pp. 1-8
-
-
Brockschmidt, F.F.1
Nothen, M.M.2
Hillmer, A.M.3
-
13
-
-
33947721145
-
Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1
-
Brylawski, B.P., Chastain II, P.D., Cohen, S.M., Cordeiro-Stone, M., and Kaufman, D.G. 2007. Mapping of an origin of DNA replication in the promoter of fragile X gene FMR1. Exp. Mol. Pathol. 82: 190-196.
-
(2007)
Exp. Mol. Pathol
, vol.82
, pp. 190-196
-
-
Brylawski, B.P.1
Chastain II, P.D.2
Cohen, S.M.3
Cordeiro-Stone, M.4
Kaufman, D.G.5
-
14
-
-
0037074013
-
ATR regulates fragile site stability
-
Casper, A.M., Nghiem, P., Arlt, M.F., and Glover, T.W. 2002. ATR regulates fragile site stability. Cell 111: 779-789.
-
(2002)
Cell
, vol.111
, pp. 779-789
-
-
Casper, A.M.1
Nghiem, P.2
Arlt, M.F.3
Glover, T.W.4
-
15
-
-
4544333154
-
Chromosomal instability at common fragile sites in Seckel syndrome
-
Casper, A.M., Durkin, S.G., Arlt, M.F., and Glover, T.W. 2004. Chromosomal instability at common fragile sites in Seckel syndrome. Am. J. Hum. Genet. 75: 654-660.
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 654-660
-
-
Casper, A.M.1
Durkin, S.G.2
Arlt, M.F.3
Glover, T.W.4
-
16
-
-
0028033594
-
The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
-
Chamberlain, N.L., Driver, E.D., and Miesfeld, R.L. 1994. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res. 22: 3181-3186.
-
(1994)
Nucleic Acids Res
, vol.22
, pp. 3181-3186
-
-
Chamberlain, N.L.1
Driver, E.D.2
Miesfeld, R.L.3
-
17
-
-
33746592986
-
A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene
-
Chastain II, P.D., Cohen, S.M., Brylawski, B.P., Cordeiro-Stone, M., and Kaufman, D.G. 2006. A late origin of DNA replication in the trinucleotide repeat region of the human FMR2 gene. Cell Cycle 5: 869-872.
-
(2006)
Cell Cycle
, vol.5
, pp. 869-872
-
-
Chastain II, P.D.1
Cohen, S.M.2
Brylawski, B.P.3
Cordeiro-Stone, M.4
Kaufman, D.G.5
-
18
-
-
0029008288
-
Hairpins are formed by the single DNA strands of the fragile X triplet repeats: Structure and biological implications
-
Chen, X., Mariappan, S.V., Catasti, P., Ratliff, R., Moyzis, R.K., Laayoun, A., Smith, S.S., Bradbury, E.M., and Gupta, G. 1995. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: Structure and biological implications. Proc. Natl. Acad. Sci. 92: 5199-5203.
-
(1995)
Proc. Natl. Acad. Sci
, vol.92
, pp. 5199-5203
-
-
Chen, X.1
Mariappan, S.V.2
Catasti, P.3
Ratliff, R.4
Moyzis, R.K.5
Laayoun, A.6
Smith, S.S.7
Bradbury, E.M.8
Gupta, G.9
-
19
-
-
0344668735
-
n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
-
n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet. 12: 3067-3074.
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 3067-3074
-
-
Chen, L.S.1
Tassone, F.2
Sahota, P.3
Hagerman, P.J.4
-
20
-
-
27644525713
-
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
-
Cho, D.H., Thienes, C.P., Mahoney, S.E., Analau, E., Filippova, G.N., and Tapscott, S.J. 2005. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol. Cell 20: 483-489.
-
(2005)
Mol. Cell
, vol.20
, pp. 483-489
-
-
Cho, D.H.1
Thienes, C.P.2
Mahoney, S.E.3
Analau, E.4
Filippova, G.N.5
Tapscott, S.J.6
-
21
-
-
0024391088
-
DNA binding site of the growth factor-inducible protein Zif268
-
Christy, B. and Nathans, D. 1989. DNA binding site of the growth factor-inducible protein Zif268. Proc. Natl. Acad. Sci. 86: 8737-8741.
-
(1989)
Proc. Natl. Acad. Sci
, vol.86
, pp. 8737-8741
-
-
Christy, B.1
Nathans, D.2
-
22
-
-
0032905253
-
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
-
Coffee, B., Zhang, F., Warren, S.T., and Reines, D. 1999. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat. Genet. 22: 98-101.
-
(1999)
Nat. Genet
, vol.22
, pp. 98-101
-
-
Coffee, B.1
Zhang, F.2
Warren, S.T.3
Reines, D.4
-
23
-
-
0036782129
-
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome
-
Coffee, B., Zhang, F., Ceman, S., Warren, S.T., and Reines, D. 2002. Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome. Am. J. Hum. Genet. 71: 923-932.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 923-932
-
-
Coffee, B.1
Zhang, F.2
Ceman, S.3
Warren, S.T.4
Reines, D.5
-
24
-
-
0035746538
-
FMR1 and the fragile X syndrome: Human genome epidemiology review
-
Crawford, D.C., Acuna, J.M., and Sherman, S.L. 2001. FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet. Med. 3: 359-371.
-
(2001)
Genet. Med
, vol.3
, pp. 359-371
-
-
Crawford, D.C.1
Acuna, J.M.2
Sherman, S.L.3
-
25
-
-
33751244242
-
Polyalanine and polyserine frameshift products in Huntington's disease
-
Davies, J.E. and Rubinsztein, D.C. 2006. Polyalanine and polyserine frameshift products in Huntington's disease. J. Med. Genet. 43: 893-896.
-
(2006)
J. Med. Genet
, vol.43
, pp. 893-896
-
-
Davies, J.E.1
Rubinsztein, D.C.2
-
26
-
-
0030836588
-
n-3′ in the human FMR1 gene
-
n-3′ in the human FMR1 gene. J. Biol. Chem. 272: 16761-16768.
-
(1997)
J. Biol. Chem
, vol.272
, pp. 16761-16768
-
-
Deissler, H.1
Wilm, M.2
Genc, B.3
Schmitz, B.4
Ternes, T.5
Naumann, F.6
Mann, M.7
Doerfler, W.8
-
27
-
-
33746495515
-
Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites
-
Durkin, S.G., Arlt, M.F., Howlett, N.G., and Glover, T.W. 2006. Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites. Oncogene 25: 4381-4388.
-
(2006)
Oncogene
, vol.25
, pp. 4381-4388
-
-
Durkin, S.G.1
Arlt, M.F.2
Howlett, N.G.3
Glover, T.W.4
-
28
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler, E.E., Holden, J.J., Popovich, B.W., Reiss, A.L., Snow, K., Thibodeau, S.N., Richards, C.S., Ward, P.A., and Nelson, D.L. 1994. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat. Genet. 8: 88-94.
-
(1994)
Nat. Genet
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.2
Popovich, B.W.3
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
Ward, P.A.8
Nelson, D.L.9
-
29
-
-
39549086548
-
ATR protects the genome against CGG•CCG-repeat expansion in Fragile X premutation mice
-
Entezam, A. and Usdin, K. 2008. ATR protects the genome against CGG•CCG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res. 36: 1050-1056.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 1050-1056
-
-
Entezam, A.1
Usdin, K.2
-
30
-
-
34247637636
-
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model
-
Entezam, A., Biacsi, R., Orrison, B., Saha, T., Hoffman, G.E., Grabczyk, E., Nussbaum, R.L., and Usdin, K. 2007. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 395: 125-134.
-
(2007)
Gene
, vol.395
, pp. 125-134
-
-
Entezam, A.1
Biacsi, R.2
Orrison, B.3
Saha, T.4
Hoffman, G.E.5
Grabczyk, E.6
Nussbaum, R.L.7
Usdin, K.8
-
31
-
-
0027342721
-
On the essence of "meaningless" simple repetitive DNA in eukaryote genomes
-
Epplen, C., Melmer, G., Siedlaczck, I., Schwaiger, F.W., Maueler, W., and Epplen, J.T. 1993. On the essence of "meaningless" simple repetitive DNA in eukaryote genomes. EXS 67: 29-45.
-
(1993)
EXS
, vol.67
, pp. 29-45
-
-
Epplen, C.1
Melmer, G.2
Siedlaczck, I.3
Schwaiger, F.W.4
Maueler, W.5
Epplen, J.T.6
-
32
-
-
35948991932
-
Copy number variants and common disorders: Filling the gaps and exploring complexity in genome-wide association studies
-
doi: 10.1371/journal.pgen.0030190
-
Estivill, X. and Armengol, L. 2007. Copy number variants and common disorders: Filling the gaps and exploring complexity in genome-wide association studies. PLoS Genet. 3: e190. doi: 10.1371/journal.pgen.0030190.
-
(2007)
PLoS Genet
, vol.3
-
-
Estivill, X.1
Armengol, L.2
-
33
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng, Y., Zhang, F., Lokey, L.K., Chastain, J.L., Lakkis, L., Eberhart, D., and Warren, S.T. 1995. Translational suppression by trinucleotide repeat expansion at FMR1. Science 268: 731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
34
-
-
34347229062
-
n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome
-
n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome. Hum. Reprod. 22: 1031-1036.
-
(2007)
Hum. Reprod
, vol.22
, pp. 1031-1036
-
-
Ferk, P.1
Teran, N.2
Gersak, K.3
-
35
-
-
0034935016
-
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus
-
Filippova, G.N., Thienes, C.P., Penn, B.H., Cho, D.H., Hu, Y.J., Moore, J.M., Klesert, T.R., Lobanenkov, V.V., and Tapscott, S.J. 2001. CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat. Genet. 28: 335-343.
-
(2001)
Nat. Genet
, vol.28
, pp. 335-343
-
-
Filippova, G.N.1
Thienes, C.P.2
Penn, B.H.3
Cho, D.H.4
Hu, Y.J.5
Moore, J.M.6
Klesert, T.R.7
Lobanenkov, V.V.8
Tapscott, S.J.9
-
36
-
-
0032488872
-
Expansion and length-dependent fragility of CTG repeats in yeast
-
Freudenreich, C.H., Kantrow, S.M., and Zakian, V.A. 1998. Expansion and length-dependent fragility of CTG repeats in yeast. Science 279: 853-856.
-
(1998)
Science
, vol.279
, pp. 853-856
-
-
Freudenreich, C.H.1
Kantrow, S.M.2
Zakian, V.A.3
-
37
-
-
0028362201
-
The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure
-
Fry, M. and Loeb, L.A. 1994. The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Proc. Natl. Acad. Sci. 91: 4950-4954.
-
(1994)
Proc. Natl. Acad. Sci
, vol.91
, pp. 4950-4954
-
-
Fry, M.1
Loeb, L.A.2
-
39
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, Y.H., Kuhl, D.P., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J., Holden, J.J., Fenwick Jr., R.G., Warren, S.T., et al. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67: 1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick Jr., R.G.9
Warren, S.T.10
-
40
-
-
0034257920
-
Purα: A multifunctional single-stranded DNA- and RNA-binding protein
-
Gallia, G.L., Johnson, E.M., and Khalili, K. 2000. Purα: A multifunctional single-stranded DNA- and RNA-binding protein. Nucleic Acids Res. 28: 3197-3205.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 3197-3205
-
-
Gallia, G.L.1
Johnson, E.M.2
Khalili, K.3
-
41
-
-
0033790152
-
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
-
Gecz, J. 2000a. FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations. J. Med. Genet. 37: 782-784.
-
(2000)
J. Med. Genet
, vol.37
, pp. 782-784
-
-
Gecz, J.1
-
42
-
-
0033915841
-
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: Clinical and molecular aspects
-
Gecz, J. 2000b. The FMR2 gene, FRAXE and non-specific X-linked mental retardation: Clinical and molecular aspects. Ann. Hum. Genet. 64: 95-106.
-
(2000)
Ann. Hum. Genet
, vol.64
, pp. 95-106
-
-
Gecz, J.1
-
43
-
-
0033806849
-
pMGA phenotypic variation in Mycoplasma gallisepticum occurs in vivo and is mediated by trinucleotide repeat length variation
-
Glew, M.D., Browning, G.F., Markham, P.F., and Walker, I.D. 2000. pMGA phenotypic variation in Mycoplasma gallisepticum occurs in vivo and is mediated by trinucleotide repeat length variation. Infect. Immun. 68: 6027-6033.
-
(2000)
Infect. Immun
, vol.68
, pp. 6027-6033
-
-
Glew, M.D.1
Browning, G.F.2
Markham, P.F.3
Walker, I.D.4
-
44
-
-
0034672110
-
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats
-
Grabczyk, E. and Usdin, K. 2000a. Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats. Nucleic Acids Res. 28: 4930-4937.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 4930-4937
-
-
Grabczyk, E.1
Usdin, K.2
-
45
-
-
0034660695
-
The GAA•TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk, E. and Usdin, K. 2000b. The GAA•TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res. 28: 2815-2822.
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
46
-
-
33846123946
-
An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene
-
Gray, S.J., Gerhardt, J., Doerfler, W., Small, L.E., and Fanning, E. 2007. An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene. Mol. Cell. Biol. 27: 426-437.
-
(2007)
Mol. Cell. Biol
, vol.27
, pp. 426-437
-
-
Gray, S.J.1
Gerhardt, J.2
Doerfler, W.3
Small, L.E.4
Fanning, E.5
-
47
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del Bigio, M.R., Jacquemont, S., Leehey, M., and Hagerman, P.J. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125: 1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
48
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
Greene, E., Mahishi, L., Entezam, A., Kumari, D., and Usdin, K. 2007. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 35: 3383-3390.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
Kumari, D.4
Usdin, K.5
-
49
-
-
0030138905
-
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
-
Gu, Y., Shen, Y., Gibbs, R.A., and Nelson, D.L. 1996. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat. Genet. 13: 109-113.
-
(1996)
Nat. Genet
, vol.13
, pp. 109-113
-
-
Gu, Y.1
Shen, Y.2
Gibbs, R.A.3
Nelson, D.L.4
-
50
-
-
33646145602
-
Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
-
Hagerman, R.J. 2006. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J. Dev. Behav. Pediatr. 27: 63-74.
-
(2006)
J. Dev. Behav. Pediatr
, vol.27
, pp. 63-74
-
-
Hagerman, R.J.1
-
52
-
-
0344442391
-
The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by DICER1
-
Handa, V., Saha, T., and Usdin, K. 2003. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by DICER1. Nucleic Acids Res. 31: 6243-6248.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 6243-6248
-
-
Handa, V.1
Saha, T.2
Usdin, K.3
-
53
-
-
18144402411
-
Long CGG-repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles
-
Handa, V., Goldwater, D., Stiles, D., Cam, M., Poy, G., Kumari, D., and Usdin, K. 2005. Long CGG-repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles. FEBS Lett. 579: 2702-2708.
-
(2005)
FEBS Lett
, vol.579
, pp. 2702-2708
-
-
Handa, V.1
Goldwater, D.2
Stiles, D.3
Cam, M.4
Poy, G.5
Kumari, D.6
Usdin, K.7
-
54
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman, D., Jenssen, K., Burnett, R., Soragni, E., Perlman, S.L., and Gottesfeld, J.M. 2006. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2: 551-558.
-
(2006)
Nat. Chem. Biol
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
55
-
-
0032059864
-
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis
-
Hewett, D.R., Handt, O., Hobson, L., Mangelsdorf, M., Eyre, H.J., Baker, E., Sutherland, G.R., Schuffenhauer, S., Mao, J.I., and Richards, R.I. 1998. FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Mol. Cell 1: 773-781.
-
(1998)
Mol. Cell
, vol.1
, pp. 773-781
-
-
Hewett, D.R.1
Handt, O.2
Hobson, L.3
Mangelsdorf, M.4
Eyre, H.J.5
Baker, E.6
Sutherland, G.R.7
Schuffenhauer, S.8
Mao, J.I.9
Richards, R.I.10
-
56
-
-
4143120231
-
Muscleblind proteins regulate alternative splicing
-
Ho, T.H., Charlet, B.N., Poulos, M.G., Singh, G., Swanson, M.S., and Cooper, T.A. 2004. Muscleblind proteins regulate alternative splicing. EMBO J. 23: 3103-3112.
-
(2004)
EMBO J
, vol.23
, pp. 3103-3112
-
-
Ho, T.H.1
Charlet, B.N.2
Poulos, M.G.3
Singh, G.4
Swanson, M.S.5
Cooper, T.A.6
-
57
-
-
0037452775
-
Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease
-
Hockly, E., Richon, V.M., Woodman, B., Smith, D.L., Zhou, X., Rosa, E., Sathasivam, K., Ghazi-Noori, S., Mahal, A., Lowden, P.A., et al. 2003. Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc. Natl. Acad. Sci. 100: 2041-2046.
-
(2003)
Proc. Natl. Acad. Sci
, vol.100
, pp. 2041-2046
-
-
Hockly, E.1
Richon, V.M.2
Woodman, B.3
Smith, D.L.4
Zhou, X.5
Rosa, E.6
Sathasivam, K.7
Ghazi-Noori, S.8
Mahal, A.9
Lowden, P.A.10
-
59
-
-
34247271844
-
Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene
-
Honda, S., Hayashi, S., Kato, M., Niida, Y., Hayasaka, K., Okuyama, T., Imoto, I., Mizutani, S., and Inazawa, J. 2007. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am. J. Med. Genet. A 143: 687-693.
-
(2007)
Am. J. Med. Genet. A
, vol.143
, pp. 687-693
-
-
Honda, S.1
Hayashi, S.2
Kato, M.3
Niida, Y.4
Hayasaka, K.5
Okuyama, T.6
Imoto, I.7
Mizutani, S.8
Inazawa, J.9
-
60
-
-
0037133290
-
Polyglutamine disease: Acetyltransferases awry
-
doi: 10.1016/S0960-9822(02)00709-1
-
Hughes, R.E. 2002. Polyglutamine disease: Acetyltransferases awry. Curr. Biol. 12: R141-R143. doi: 10.1016/S0960-9822(02)00709-1.
-
(2002)
Curr. Biol
, vol.12
-
-
Hughes, R.E.1
-
61
-
-
61449238441
-
Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes
-
doi: 10.1080/14734220701413781
-
Ikeda, Y., Daughters, R.S., and Ranum, L.P. 2008. Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes. Cerebellum doi: 10.1080/14734220701413781.
-
(2008)
Cerebellum
-
-
Ikeda, Y.1
Daughters, R.S.2
Ranum, L.P.3
-
62
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi, C.K., Yasui, D.H., An, H.J., Greco, C.M., Tassone, F., Nannen, K., Babineau, B., Lebrilla, C.B., Hagerman, R.J., and Hagerman, P.J. 2006. Protein composition of the intranuclear inclusions of FXTAS. Brain 129: 256-271.
-
(2006)
Brain
, vol.129
, pp. 256-271
-
-
Iwahashi, C.K.1
Yasui, D.H.2
An, H.J.3
Greco, C.M.4
Tassone, F.5
Nannen, K.6
Babineau, B.7
Lebrilla, C.B.8
Hagerman, R.J.9
Hagerman, P.J.10
-
63
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin, P., Zarnescu, D.C., Zhang, F., Pearson, C.E., Lucchesi, J.C., Moses, K., and Warren, S.T. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39: 739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
64
-
-
34547681603
-
Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
-
Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T.C., Liu, H., Feng, Y., and Warren, S.T. 2007. Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 55: 556-564.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P.1
Duan, R.2
Qurashi, A.3
Qin, Y.4
Tian, D.5
Rosser, T.C.6
Liu, H.7
Feng, Y.8
Warren, S.T.9
-
65
-
-
0342424768
-
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage
-
Jones, C., Mullenbach, R., Grossfeld, P., Auer, R., Favier, R., Chien, K., James, M., Tunnacliffe, A., and Cotter, F. 2000. Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: Evidence for a common mechanism of chromosome breakage. Hum. Mol. Genet. 9: 1201-1208.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 1201-1208
-
-
Jones, C.1
Mullenbach, R.2
Grossfeld, P.3
Auer, R.4
Favier, R.5
Chien, K.6
James, M.7
Tunnacliffe, A.8
Cotter, F.9
-
66
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia, R.N., Johnstone, K.A., Mankodi, A., Lungu, C., Thornton, C.A., Esson, D., Timmers, A.M., Hauswirth, W.W., and Swanson, M.S. 2003. A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-1980.
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
67
-
-
0028807448
-
Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes
-
Kang, S., Ohshima, K., Shimizu, M., Amirhaeri, S., and Wells, R.D. 1995. Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J. Biol. Chem. 270: 27014-27021.
-
(1995)
J. Biol. Chem
, vol.270
, pp. 27014-27021
-
-
Kang, S.1
Ohshima, K.2
Shimizu, M.3
Amirhaeri, S.4
Wells, R.D.5
-
68
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson, A., Zhang, F., Hagedorn, C.H., and Warren, S.T. 2001. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet. 10: 1449-1454.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
69
-
-
1542299596
-
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
-
Kino, Y., Mori, D., Oma, Y., Takeshita, Y., Sasagawa, N., and Ishiura, S. 2004. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum. Mol. Genet. 13: 495-507.
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 495-507
-
-
Kino, Y.1
Mori, D.2
Oma, Y.3
Takeshita, Y.4
Sasagawa, N.5
Ishiura, S.6
-
70
-
-
33947496366
-
Molecular pathogenesis of spinocerebellar ataxia type 6
-
Kordasiewicz, H.B. and Gomez, C.M. 2007. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics 4: 285-294.
-
(2007)
Neurotherapeutics
, vol.4
, pp. 285-294
-
-
Kordasiewicz, H.B.1
Gomez, C.M.2
-
71
-
-
33847077134
-
Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets
-
Krol, J., Fiszer, A., Mykowska, A., Sobczak, K., de Mezer, M., and Krzyzosiak, W.J. 2007. Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol. Cell 25: 575-586.
-
(2007)
Mol. Cell
, vol.25
, pp. 575-586
-
-
Krol, J.1
Fiszer, A.2
Mykowska, A.3
Sobczak, K.4
de Mezer, M.5
Krzyzosiak, W.J.6
-
72
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
-
Ladd, P.D., Smith, L.E., Rabaia, N.A., Moore, J.M., Georges, S.A., Hansen, R.S., Hagerman, R.J., Tassone, F., Tapscott, S.J., and Filippova, G.N. 2007. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum. Mol. Genet. 16: 3174-3187.
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 3174-3187
-
-
Ladd, P.D.1
Smith, L.E.2
Rabaia, N.A.3
Moore, J.M.4
Georges, S.A.5
Hansen, R.S.6
Hagerman, R.J.7
Tassone, F.8
Tapscott, S.J.9
Filippova, G.N.10
-
73
-
-
0030964106
-
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
-
Lalioti, M.D., Scott, H.S., Buresi, C., Rossier, C., Bottani, A., Morris, M.A., Malafosse, A., and Antonarakis, S.E. 1997. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386: 847-851.
-
(1997)
Nature
, vol.386
, pp. 847-851
-
-
Lalioti, M.D.1
Scott, H.S.2
Buresi, C.3
Rossier, C.4
Bottani, A.5
Morris, M.A.6
Malafosse, A.7
Antonarakis, S.E.8
-
74
-
-
0032870967
-
Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1
-
Lalioti, M.D., Scott, H.S., and Antonarakis, S.E. 1999. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum. Mol. Genet. 8: 1791-1798.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 1791-1798
-
-
Lalioti, M.D.1
Scott, H.S.2
Antonarakis, S.E.3
-
75
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E.S., Linton, L.M., Birren, B., Nusbaum, C., Zody, M.C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., et al. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
FitzHugh, W.10
-
76
-
-
0031924605
-
Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: Implications for the mechanism of fragile site induction
-
Le Beau, M.M., Rassool, F.V., Neilly, M.E., Espinosa 3rd, R., Glover, T.W., Smith, D.I., and McKeithan, T.W. 1998. Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: Implications for the mechanism of fragile site induction. Hum. Mol. Genet. 7: 755-761.
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 755-761
-
-
Le Beau, M.M.1
Rassool, F.V.2
Neilly, M.E.3
Espinosa 3rd, R.4
Glover, T.W.5
Smith, D.I.6
McKeithan, T.W.7
-
77
-
-
36048954457
-
Unstable spinocerebellar ataxia type 10 (ATTCT)•(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells
-
Liu, G., Bissler, J.J., Sinden, R.R., and Leffak, M. 2007. Unstable spinocerebellar ataxia type 10 (ATTCT)•(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells. Mol. Cell. Biol. 27: 7828-7838.
-
(2007)
Mol. Cell. Biol
, vol.27
, pp. 7828-7838
-
-
Liu, G.1
Bissler, J.J.2
Sinden, R.R.3
Leffak, M.4
-
78
-
-
0028964371
-
Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype
-
Lucassen, A.M., Screaton, G.R., Julier, C., Elliott, T.J., Lathrop, M., and Bell, J.I. 1995. Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype. Hum. Mol. Genet. 4: 501-506.
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 501-506
-
-
Lucassen, A.M.1
Screaton, G.R.2
Julier, C.3
Elliott, T.J.4
Lathrop, M.5
Bell, J.I.6
-
79
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi, A., Logigian, E., Callahan, L., McClain, C., White, R., Henderson, D., Krym, M., and Thornton, C.A. 2000. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289: 1769-1773.
-
(2000)
Science
, vol.289
, pp. 1769-1773
-
-
Mankodi, A.1
Logigian, E.2
Callahan, L.3
McClain, C.4
White, R.5
Henderson, D.6
Krym, M.7
Thornton, C.A.8
-
80
-
-
33644670784
-
Nuclear RNA foci in the heart in myotonic dystrophy
-
Mankodi, A., Lin, X., Blaxall, B.C., Swanson, M.S., and Thornton, C.A. 2005. Nuclear RNA foci in the heart in myotonic dystrophy. Circ. Res. 97: 1152-1155.
-
(2005)
Circ. Res
, vol.97
, pp. 1152-1155
-
-
Mankodi, A.1
Lin, X.2
Blaxall, B.C.3
Swanson, M.S.4
Thornton, C.A.5
-
82
-
-
4143119185
-
Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons
-
Marz, P., Probst, A., Lang, S., Schwager, M., Rose-John, S., Otten, U., and Ozbek, S. 2004. Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. J. Biol. Chem. 279: 35542-35550.
-
(2004)
J. Biol. Chem
, vol.279
, pp. 35542-35550
-
-
Marz, P.1
Probst, A.2
Lang, S.3
Schwager, M.4
Rose-John, S.5
Otten, U.6
Ozbek, S.7
-
83
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal, R.P., Watase, K., Khajavi, M., McCall, A.E., Davis, C.F., Zu, L., et al. 2000. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat. Genet. 26: 191-194.
-
(2000)
Nat. Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
Khajavi, M.7
McCall, A.E.8
Davis, C.F.9
Zu, L.10
-
84
-
-
0034596989
-
Transcriptional silencing and promoter methylation triggered by double-stranded RNA
-
Mette, M.F., Aufsatz, W., van der Winden, J., Matzke, M.A., and Matzke, A.J. 2000. Transcriptional silencing and promoter methylation triggered by double-stranded RNA. EMBO J. 19: 5194-5201.
-
(2000)
EMBO J
, vol.19
, pp. 5194-5201
-
-
Mette, M.F.1
Aufsatz, W.2
van der Winden, J.3
Matzke, M.A.4
Matzke, A.J.5
-
85
-
-
0027366138
-
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy
-
Mhatre, A.N., Trifiro, M.A., Kaufman, M., Kazemi-Esfarjani, P., Figlewicz, D., Rouleau, G., and Pinsky, L. 1993. Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 5: 184-188.
-
(1993)
Nat. Genet
, vol.5
, pp. 184-188
-
-
Mhatre, A.N.1
Trifiro, M.A.2
Kaufman, M.3
Kazemi-Esfarjani, P.4
Figlewicz, D.5
Rouleau, G.6
Pinsky, L.7
-
86
-
-
33745545413
-
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
-
Moseley, M.L., Zu, T., Ikeda, Y., Gao, W., Mosemiller, A.K., Daughters, R.S., Chen, G., Weatherspoon, M.R., Clark, H.B., Ebner, T.J., et al. 2006. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat. Genet. 38: 758-769.
-
(2006)
Nat. Genet
, vol.38
, pp. 758-769
-
-
Moseley, M.L.1
Zu, T.2
Ikeda, Y.3
Gao, W.4
Mosemiller, A.K.5
Daughters, R.S.6
Chen, G.7
Weatherspoon, M.R.8
Clark, H.B.9
Ebner, T.J.10
-
87
-
-
0034481291
-
Premature ovarian failure and the FMR1 gene
-
Murray, A. 2000. Premature ovarian failure and the FMR1 gene. Semin. Reprod. Med. 18: 59-66.
-
(2000)
Semin. Reprod. Med
, vol.18
, pp. 59-66
-
-
Murray, A.1
-
88
-
-
14044258550
-
SMC1 involvement in fragile site expression
-
Musio, A., Montagna, C., Mariani, T., Tilenni, M., Focarelli, M.L., Brait, L., Indino, E., Benedetti, P.A., Chessa, L., Albertini, A., et al. 2005. SMC1 involvement in fragile site expression. Hum. Mol. Genet. 14: 525-533.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 525-533
-
-
Musio, A.1
Montagna, C.2
Mariani, T.3
Tilenni, M.4
Focarelli, M.L.5
Brait, L.6
Indino, E.7
Benedetti, P.A.8
Chessa, L.9
Albertini, A.10
-
89
-
-
1542380523
-
The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila
-
Mutsuddi, M., Marshall, C.M., Benzow, K.A., Koob, M.D., and Rebay, I. 2004. The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. Curr. Biol. 14: 302-308.
-
(2004)
Curr. Biol
, vol.14
, pp. 302-308
-
-
Mutsuddi, M.1
Marshall, C.M.2
Benzow, K.A.3
Koob, M.D.4
Rebay, I.5
-
90
-
-
0028860737
-
n nucleotide repeats readily fold back to form unimolecular hairpin structures
-
n nucleotide repeats readily fold back to form unimolecular hairpin structures. J. Biol. Chem. 270: 28970-28977.
-
(1995)
J. Biol. Chem
, vol.270
, pp. 28970-28977
-
-
Nadel, Y.1
Weisman-Shomer, P.2
Fry, M.3
-
91
-
-
1842406027
-
CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins
-
Napierala, M. and Krzyzosiak, W.J. 1997. CUG repeats present in myotonin kinase RNA form metastable "slippery" hairpins. J. Biol. Chem. 272: 31079-31085.
-
(1997)
J. Biol. Chem
, vol.272
, pp. 31079-31085
-
-
Napierala, M.1
Krzyzosiak, W.J.2
-
92
-
-
0035937523
-
Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity
-
Nucifora Jr., F.C., Sasaki, M., Peters, M.F., Huang, H., Cooper, J.K., Yamada, M., Takahashi, H., Tsuji, S., Troncoso, J., Dawson, V.L., et al. 2001. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 291: 2423-2428.
-
(2001)
Science
, vol.291
, pp. 2423-2428
-
-
Nucifora Jr., F.C.1
Sasaki, M.2
Peters, M.F.3
Huang, H.4
Cooper, J.K.5
Yamada, M.6
Takahashi, H.7
Tsuji, S.8
Troncoso, J.9
Dawson, V.L.10
-
93
-
-
0032744971
-
Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity
-
O'Dell, S.D., Bujac, S.R., Miller, G.J., and Day, I.N. 1999. Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity. Eur. J. Hum. Genet. 7: 821-827.
-
(1999)
Eur. J. Hum. Genet
, vol.7
, pp. 821-827
-
-
O'Dell, S.D.1
Bujac, S.R.2
Miller, G.J.3
Day, I.N.4
-
94
-
-
33745056327
-
Tandem repeat copy-number variation in protein-coding regions of human genes
-
doi: 10.1186/gb-2005-6-8-r69
-
O'Dushlaine, C.T., Edwards, R.J., Park, S.D., and Shields, D.C. 2005. Tandem repeat copy-number variation in protein-coding regions of human genes. Genome Biol. 6: R69. doi: 10.1186/gb-2005-6-8-r69.
-
(2005)
Genome Biol
, vol.6
-
-
O'Dushlaine, C.T.1
Edwards, R.J.2
Park, S.D.3
Shields, D.C.4
-
95
-
-
0032486276
-
Inhibitory effects of expanded GAA•TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo
-
Ohshima, K., Montermini, L., Wells, R.D., and Pandolfo, M. 1998. Inhibitory effects of expanded GAA•TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem. 273: 14588-14595.
-
(1998)
J. Biol. Chem
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
96
-
-
34547692622
-
Trinucleotide repeat disorders
-
Orr, H.T. and Zoghbi, H.Y. 2007. Trinucleotide repeat disorders. Annu. Rev. Neurosci. 30: 575-621.
-
(2007)
Annu. Rev. Neurosci
, vol.30
, pp. 575-621
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
97
-
-
0029059218
-
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
-
Otten, A.D. and Tapscott, S.J. 1995. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc. Natl. Acad. Sci. 92: 5465-5469.
-
(1995)
Proc. Natl. Acad. Sci
, vol.92
, pp. 5465-5469
-
-
Otten, A.D.1
Tapscott, S.J.2
-
98
-
-
0036940427
-
The molecular basis of Friedreich ataxia
-
Pandolfo, M. 2002. The molecular basis of Friedreich ataxia. Adv. Exp. Med. Biol. 516: 99-118.
-
(2002)
Adv. Exp. Med. Biol
, vol.516
, pp. 99-118
-
-
Pandolfo, M.1
-
99
-
-
34249810892
-
Argonaute proteins: Mediators of RNA silencing
-
Peters, L. and Meister, G. 2007. Argonaute proteins: Mediators of RNA silencing. Mol. Cell 26: 611-623.
-
(2007)
Mol. Cell
, vol.26
, pp. 611-623
-
-
Peters, L.1
Meister, G.2
-
100
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F.P., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T., and Nelson, D.L. 1991. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
101
-
-
0037470576
-
n repeats
-
n repeats. J. Mol. Biol. 326: 1095-1111.
-
(2003)
J. Mol. Biol
, vol.326
, pp. 1095-1111
-
-
Potaman, V.N.1
Bissler, J.J.2
Hashem, V.I.3
Oussatcheva, E.A.4
Lu, L.5
Shlyakhtenko, L.S.6
Lyubchenko, Y.L.7
Matsuura, T.8
Ashizawa, T.9
Leffak, M.10
-
104
-
-
33748373580
-
RNA-mediated neuromuscular disorders
-
Ranum, L.P. and Cooper, T.A. 2006. RNA-mediated neuromuscular disorders. Annu. Rev. Neurosci. 29: 259-277.
-
(2006)
Annu. Rev. Neurosci
, vol.29
, pp. 259-277
-
-
Ranum, L.P.1
Cooper, T.A.2
-
105
-
-
0030201095
-
Direct cloning of DNA sequences from the common fragile site region at chromosome band 3p14.2
-
Rassool, F.V., Le Beau, M.M., Shen, M.L., Neilly, M.E., Espinosa 3rd, R., Ong, S.T., Boldog, F., Drabkin, H., McCarroll, R., and McKeithan, T.W. 1996. Direct cloning of DNA sequences from the common fragile site region at chromosome band 3p14.2. Genomics 35: 109-117.
-
(1996)
Genomics
, vol.35
, pp. 109-117
-
-
Rassool, F.V.1
Le Beau, M.M.2
Shen, M.L.3
Neilly, M.E.4
Espinosa 3rd, R.5
Ong, S.T.6
Boldog, F.7
Drabkin, H.8
McCarroll, R.9
McKeithan, T.W.10
-
106
-
-
84970050019
-
Human genes containing polymorphic trinucleotide repeats
-
Riggins, G.J., Lokey, L.K., Chastain, J.L., Leiner, H.A., Sherman, S.L., Wilkinson, K.D., and Warren, S.T. 1992. Human genes containing polymorphic trinucleotide repeats. Nat. Genet. 2: 186-191.
-
(1992)
Nat. Genet
, vol.2
, pp. 186-191
-
-
Riggins, G.J.1
Lokey, L.K.2
Chastain, J.L.3
Leiner, H.A.4
Sherman, S.L.5
Wilkinson, K.D.6
Warren, S.T.7
-
107
-
-
9244251603
-
Evolutionary breakpoints are co-localized with fragile sites and intrachromosomal telomeric sequences in primates
-
Ruiz-Herrera, A., Garcia, F., Giulotto, E., Attolini, C., Egozcue, J., Ponsa, M., and Garcia, M. 2005. Evolutionary breakpoints are co-localized with fragile sites and intrachromosomal telomeric sequences in primates. Cytogenet. Genome Res. 108: 234-247.
-
(2005)
Cytogenet. Genome Res
, vol.108
, pp. 234-247
-
-
Ruiz-Herrera, A.1
Garcia, F.2
Giulotto, E.3
Attolini, C.4
Egozcue, J.5
Ponsa, M.6
Garcia, M.7
-
108
-
-
34249697132
-
Is mammalian chromosomal evolution driven by regions of genome fragility?
-
doi: 10.1186/gb-2006-7-12-r115
-
Ruiz-Herrera, A., Castresana, J., and Robinson, T.J. 2006. Is mammalian chromosomal evolution driven by regions of genome fragility? Genome Biol. 7: R115. doi: 10.1186/gb-2006-7-12-r115.
-
(2006)
Genome Biol
, vol.7
-
-
Ruiz-Herrera, A.1
Castresana, J.2
Robinson, T.J.3
-
109
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA•TTC repeats in R•R•Y triplex structures from Friedreich's ataxia
-
Sakamoto, N., Chastain, P.D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J.D., and Wells, R.D. 1999. Sticky DNA: Self-association properties of long GAA•TTC repeats in R•R•Y triplex structures from Friedreich's ataxia. Mol. Cell 3: 465-475.
-
(1999)
Mol. Cell
, vol.3
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.D.2
Parniewski, P.3
Ohshima, K.4
Pandolfo, M.5
Griffith, J.D.6
Wells, R.D.7
-
110
-
-
0030725454
-
Trinucleotide repeats affect DNA replication in vivo
-
Samadashwily, G.M., Raca, G., and Mirkin, S.M. 1997. Trinucleotide repeats affect DNA replication in vivo. Nat. Genet. 17: 298-304.
-
(1997)
Nat. Genet
, vol.17
, pp. 298-304
-
-
Samadashwily, G.M.1
Raca, G.2
Mirkin, S.M.3
-
111
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman, S.L. 2000. Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet. 97: 189-194.
-
(2000)
Am. J. Med. Genet
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
112
-
-
0028148342
-
Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha-ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X
-
Smith, S.S., Laayoun, A., Lingeman, R.G., Baker, D.J., and Riley, J. 1994. Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha-ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X. J. Mol. Biol. 243: 143-151.
-
(1994)
J. Mol. Biol
, vol.243
, pp. 143-151
-
-
Smith, S.S.1
Laayoun, A.2
Lingeman, R.G.3
Baker, D.J.4
Riley, J.5
-
113
-
-
34548724996
-
Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat
-
Sofola, O.A., Jin, P., Botas, J., and Nelson, D.L. 2007a. Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum. Mol. Genet. 16: 2326-2332.
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 2326-2332
-
-
Sofola, O.A.1
Jin, P.2
Botas, J.3
Nelson, D.L.4
-
114
-
-
34547697173
-
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
-
Sofola, O.A., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D.L., and Botas, J. 2007b. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 55: 565-571.
-
(2007)
Neuron
, vol.55
, pp. 565-571
-
-
Sofola, O.A.1
Jin, P.2
Qin, Y.3
Duan, R.4
Liu, H.5
de Haro, M.6
Nelson, D.L.7
Botas, J.8
-
115
-
-
0035909330
-
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila
-
Steffan, J.S., Bodai, L., Pallos, J., Poelman, M., McCampbell, A., Apostol, B.L., Kazantsev, A., Schmidt, E., Zhu, Y.Z., Greenwald, M., et al. 2001. Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 413: 739-743.
-
(2001)
Nature
, vol.413
, pp. 739-743
-
-
Steffan, J.S.1
Bodai, L.2
Pallos, J.3
Poelman, M.4
McCampbell, A.5
Apostol, B.L.6
Kazantsev, A.7
Schmidt, E.8
Zhu, Y.Z.9
Greenwald, M.10
-
116
-
-
33846199099
-
Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
-
Strom, C.M., Crossley, B., Redman, J.B., Buller, A., Quan, F., Peng, M., McGinnis, M., Fenwick Jr., R.G., and Sun, W. 2007. Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory. Genet. Med. 9: 46-51.
-
(2007)
Genet. Med
, vol.9
, pp. 46-51
-
-
Strom, C.M.1
Crossley, B.2
Redman, J.B.3
Buller, A.4
Quan, F.5
Peng, M.6
McGinnis, M.7
Fenwick Jr., R.G.8
Sun, W.9
-
117
-
-
37549024642
-
Structural families of genomic microsatellites
-
Subirana, J.A. and Messeguer, X. 2008. Structural families of genomic microsatellites. Gene 408: 124-132.
-
(2008)
Gene
, vol.408
, pp. 124-132
-
-
Subirana, J.A.1
Messeguer, X.2
-
118
-
-
0042594452
-
Triplet repeats in human genome: Distribution and their association with genes and other genomic regions
-
Subramanian, S., Madgula, V.M., George, R., Mishra, R.K., Pandit, M.W., Kumar, C.S., and Singh, L. 2003. Triplet repeats in human genome: Distribution and their association with genes and other genomic regions. Bioinformatics 19: 549-552.
-
(2003)
Bioinformatics
, vol.19
, pp. 549-552
-
-
Subramanian, S.1
Madgula, V.M.2
George, R.3
Mishra, R.K.4
Pandit, M.W.5
Kumar, C.S.6
Singh, L.7
-
119
-
-
18844398832
-
Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments
-
Tabolacci, E., Pietrobono, R., Moscato, U., Oostra, B.A., Chiurazzi, P., and Neri, G. 2005. Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. Eur. J. Hum. Genet. 13: 641-648.
-
(2005)
Eur. J. Hum. Genet
, vol.13
, pp. 641-648
-
-
Tabolacci, E.1
Pietrobono, R.2
Moscato, U.3
Oostra, B.A.4
Chiurazzi, P.5
Neri, G.6
-
120
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
-
Tassone, F., Hagerman, R.J., Taylor, A.K., Gane, L.W., Godfrey, T.E., and Hagerman, P.J. 2000. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 66: 6-15.
-
(2000)
Am. J. Hum. Genet
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
121
-
-
33947722883
-
Elevated FMR1 mRNA in premutation carriers is due to increased transcription
-
Tassone, F., Beilina, A., Carosi, C., Albertosi, S., Bagni, C., Li, L., Glover, K., Bentley, D., and Hagerman, P.J. 2007. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13: 555-562.
-
(2007)
RNA
, vol.13
, pp. 555-562
-
-
Tassone, F.1
Beilina, A.2
Carosi, C.3
Albertosi, S.4
Bagni, C.5
Li, L.6
Glover, K.7
Bentley, D.8
Hagerman, P.J.9
-
122
-
-
0030861573
-
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
-
Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C., and Moxley 3rd, R.T. 1997. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat. Genet. 16: 407-409.
-
(1997)
Nat. Genet
, vol.16
, pp. 407-409
-
-
Thornton, C.A.1
Wymer, J.P.2
Simmons, Z.3
McClain, C.4
Moxley 3rd, R.T.5
-
123
-
-
0032167572
-
NGG-triplet repeats form similar intrastrand structures: Implications for the triplet expansion diseases
-
Usdin, K. 1998. NGG-triplet repeats form similar intrastrand structures: Implications for the triplet expansion diseases. Nucleic Acids Res. 26: 4078-4085.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 4078-4085
-
-
Usdin, K.1
-
124
-
-
0028874391
-
CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro
-
Usdin, K. and Woodford, K.J. 1995. CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res. 23: 4202-4209.
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 4202-4209
-
-
Usdin, K.1
Woodford, K.J.2
-
125
-
-
0033389541
-
Occurrence and structure-function relationship of pentameric short sequence repeats in microbial genomes
-
van Belkum, A., van Leeuwen, W., Scherer, S., and Verbrugh, H. 1999. Occurrence and structure-function relationship of pentameric short sequence repeats in microbial genomes. Res. Microbiol. 150: 617-626.
-
(1999)
Res. Microbiol
, vol.150
, pp. 617-626
-
-
van Belkum, A.1
van Leeuwen, W.2
Scherer, S.3
Verbrugh, H.4
-
126
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
van Overveld, P.G., Lemmers, R.J., Sandkuijl, L.A., Enthoven, L., Winokur, S.T., Bakels, F., Padberg, G.W., van Ommen, G.J., Frants, R.R., and van der Maarel, S.M. 2003. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat. Genet. 35: 315-317.
-
(2003)
Nat. Genet
, vol.35
, pp. 315-317
-
-
van Overveld, P.G.1
Lemmers, R.J.2
Sandkuijl, L.A.3
Enthoven, L.4
Winokur, S.T.5
Bakels, F.6
Padberg, G.W.7
van Ommen, G.J.8
Frants, R.R.9
van der Maarel, S.M.10
-
127
-
-
0037131219
-
Sticky DNA: Effect of the polypurine•polypyrimidine sequence
-
Vetcher, A.A., Napierala, M., and Wells, R.D. 2002. Sticky DNA: Effect of the polypurine•polypyrimidine sequence. J. Biol. Chem. 277: 39228-39234.
-
(2002)
J. Biol. Chem
, vol.277
, pp. 39228-39234
-
-
Vetcher, A.A.1
Napierala, M.2
Wells, R.D.3
-
128
-
-
17744419667
-
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
-
Virtaneva, K., D'Amato, E., Miao, J., Koskiniemi, M., Norio, R., Avanzini, G., Franceschetti, S., Michelucci, R., Tassinari, C.A., Omer, S., et al. 1997. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat. Genet. 15: 393-396.
-
(1997)
Nat. Genet
, vol.15
, pp. 393-396
-
-
Virtaneva, K.1
D'Amato, E.2
Miao, J.3
Koskiniemi, M.4
Norio, R.5
Avanzini, G.6
Franceschetti, S.7
Michelucci, R.8
Tassinari, C.A.9
Omer, S.10
-
129
-
-
0030575839
-
Long CCG triplet repeat blocks exclude nucleosomes: A possible mechanism for the nature of fragile sites in chromosomes
-
Wang, Y.H., Gellibolian, R., Shimizu, M., Wells, R.D., and Griffith, J. 1996. Long CCG triplet repeat blocks exclude nucleosomes: A possible mechanism for the nature of fragile sites in chromosomes. J. Mol. Biol. 263: 511-516.
-
(1996)
J. Mol. Biol
, vol.263
, pp. 511-516
-
-
Wang, Y.H.1
Gellibolian, R.2
Shimizu, M.3
Wells, R.D.4
Griffith, J.5
-
130
-
-
0029808213
-
The development and use of a DNA polymerase arrest assay for the evaluation of parameters affecting intrastrand tetraplex formation
-
Weitzmann, M.N., Woodford, K.J., and Usdin, K. 1996. The development and use of a DNA polymerase arrest assay for the evaluation of parameters affecting intrastrand tetraplex formation. J. Biol. Chem. 271: 20958-20964.
-
(1996)
J. Biol. Chem
, vol.271
, pp. 20958-20964
-
-
Weitzmann, M.N.1
Woodford, K.J.2
Usdin, K.3
-
131
-
-
0032514890
-
The mouse Ms6-hm hypervariable microsatellite forms a hairpin and two unusual tetraplexes
-
Weitzmann, M.N., Woodford, K.J., and Usdin, K. 1998. The mouse Ms6-hm hypervariable microsatellite forms a hairpin and two unusual tetraplexes. J. Biol. Chem. 273: 30742-30749.
-
(1998)
J. Biol. Chem
, vol.273
, pp. 30742-30749
-
-
Weitzmann, M.N.1
Woodford, K.J.2
Usdin, K.3
-
133
-
-
34648839886
-
Myotonic dystrophy: RNA-mediated muscle disease
-
Wheeler, T.M. and Thornton, C.A. 2007. Myotonic dystrophy: RNA-mediated muscle disease. Curr. Opin. Neurol. 20: 572-576.
-
(2007)
Curr. Opin. Neurol
, vol.20
, pp. 572-576
-
-
Wheeler, T.M.1
Thornton, C.A.2
-
134
-
-
0027716166
-
Molecular genetics of facioscapulohumeral muscular dystrophy
-
Wijmenga, C., Frants, R.R., Hewitt, J.E., van Deutekom, J.C., van Geel, M., Wright, T.J., Padberg, G.W., Hofker, M.H., and van Ommen, G.J. 1993. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscul. Disord. 3: 487-491.
-
(1993)
Neuromuscul. Disord
, vol.3
, pp. 487-491
-
-
Wijmenga, C.1
Frants, R.R.2
Hewitt, J.E.3
van Deutekom, J.C.4
van Geel, M.5
Wright, T.J.6
Padberg, G.W.7
Hofker, M.H.8
van Ommen, G.J.9
-
135
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
-
Willemsen, R., Hoogeveen-Westerveld, M., Reis, S., Holstege, J., Severijnen, L.A., Nieuwenhuizen, I.M., Schrier, M., van Unen, L., Tassone, F., Hoogeveen, A.T., et al. 2003. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet. 12: 949-959.
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.A.5
Nieuwenhuizen, I.M.6
Schrier, M.7
van Unen, L.8
Tassone, F.9
Hoogeveen, A.T.10
-
136
-
-
33846611373
-
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1
-
Winnepenninckx, B., Debacker, K., Ramsay, J., Smeets, D., Smits, A., FitzPatrick, D.R., and Kooy, R.F. 2007. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am. J. Hum. Genet. 80: 221-231.
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 221-231
-
-
Winnepenninckx, B.1
Debacker, K.2
Ramsay, J.3
Smeets, D.4
Smits, A.5
FitzPatrick, D.R.6
Kooy, R.F.7
-
137
-
-
0030974861
-
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat
-
Yu, S., Mangelsdorf, M., Hewett, D., Hobson, L., Baker, E., Eyre, H.J., Lapsys, N., Le Paslier, D., Doggett, N.A., Sutherland, G.R., et al. 1997. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell 88: 367-374.
-
(1997)
Cell
, vol.88
, pp. 367-374
-
-
Yu, S.1
Mangelsdorf, M.2
Hewett, D.3
Hobson, L.4
Baker, E.5
Eyre, H.J.6
Lapsys, N.7
Le Paslier, D.8
Doggett, N.A.9
Sutherland, G.R.10
-
138
-
-
36249002312
-
Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene
-
Zumwalt, M., Ludwig, A., Hagerman, P.J., and Dieckmann, T. 2007. Secondary structure and dynamics of the r(CGG) repeat in the mRNA of the fragile X mental retardation 1 (FMR1) gene. RNA Biol. 4: 93-100.
-
(2007)
RNA Biol
, vol.4
, pp. 93-100
-
-
Zumwalt, M.1
Ludwig, A.2
Hagerman, P.J.3
Dieckmann, T.4
|