207 related articles for article (PubMed ID: 25129257)
1. A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
Ben Salah G; Hadj Salem I; Masmoudi A; Kallabi F; Turki H; Fakhfakh F; Ayadi H; Kamoun H
Mol Biol Rep; 2014 Nov; 41(11):7373-80. PubMed ID: 25129257
[TBL] [Abstract][Full Text] [Related]
2. Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.
Ben Salah G; Salem IH; Masmoudi A; Ben Rhouma B; Turki H; Fakhfakh F; Ayadi H; Kamoun H
J Eur Acad Dermatol Venereol; 2014 Oct; 28(10):1318-23. PubMed ID: 24118499
[TBL] [Abstract][Full Text] [Related]
3. Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.
Ellis NA; Proytcheva M; Sanz MM; Ye TZ; German J
Am J Hum Genet; 1999 Nov; 65(5):1368-74. PubMed ID: 10521302
[TBL] [Abstract][Full Text] [Related]
4. Three new BLM gene mutations associated with Bloom syndrome.
Amor-Guéret M; Dubois-d'Enghien C; Laugé A; Onclercq-Delic R; Barakat A; Chadli E; Bousfiha AA; Benjelloun M; Flori E; Doray B; Laugel V; Lourenço MT; Gonçalves R; Sousa S; Couturier J; Stoppa-Lyonnet D
Genet Test; 2008 Jun; 12(2):257-61. PubMed ID: 18471088
[TBL] [Abstract][Full Text] [Related]
5. Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM.
Owen N; Hejna J; Rennie S; Mitchell A; Newell AH; Ziaie N; Moses RE; Olson SB
Cytogenet Genome Res; 2014; 144(4):255-263. PubMed ID: 25766002
[TBL] [Abstract][Full Text] [Related]
6. Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.
Tereshchenko IV; Chen Y; McDaniel LD; Schultz RA; Tischfield JA; Shao C
DNA Repair (Amst); 2010 May; 9(5):551-7. PubMed ID: 20299287
[TBL] [Abstract][Full Text] [Related]
7. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.
Foucault F; Vaury C; Barakat A; Thibout D; Planchon P; Jaulin C; Praz F; Amor-Guéret M
Hum Mol Genet; 1997 Sep; 6(9):1427-34. PubMed ID: 9285778
[TBL] [Abstract][Full Text] [Related]
8. Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.
Ellis NA; Lennon DJ; Proytcheva M; Alhadeff B; Henderson EE; German J
Am J Hum Genet; 1995 Nov; 57(5):1019-27. PubMed ID: 7485150
[TBL] [Abstract][Full Text] [Related]
9. Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells.
Imamura O; Fujita K; Shimamoto A; Tanabe H; Takeda S; Furuichi Y; Matsumoto T
Oncogene; 2001 Mar; 20(10):1143-51. PubMed ID: 11313858
[TBL] [Abstract][Full Text] [Related]
10. Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.
Backers L; Parton B; De Bruyne M; Tavernier SJ; Van Den Bogaert K; Lambrecht BN; Haerynck F; Claes KBM
Clin Genet; 2021 Feb; 99(2):292-297. PubMed ID: 33073370
[TBL] [Abstract][Full Text] [Related]
11. Werner and Bloom helicases are involved in DNA repair in a complementary fashion.
Imamura O; Fujita K; Itoh C; Takeda S; Furuichi Y; Matsumoto T
Oncogene; 2002 Jan; 21(6):954-63. PubMed ID: 11840341
[TBL] [Abstract][Full Text] [Related]
12. Relatively common mutations of the Bloom syndrome gene in the Japanese population.
Kaneko H; Isogai K; Fukao T; Matsui E; Kasahara K; Yachie A; Seki H; Koizumi S; Arai M; Utunomiya J; Miki Y; Kondo N
Int J Mol Med; 2004 Sep; 14(3):439-42. PubMed ID: 15289897
[TBL] [Abstract][Full Text] [Related]
13. Functional interactions between BLM and XRCC3 in the cell.
Otsuki M; Seki M; Inoue E; Yoshimura A; Kato G; Yamanouchi S; Kawabe Y; Tada S; Shinohara A; Komura J; Ono T; Takeda S; Ishii Y; Enomoto T
J Cell Biol; 2007 Oct; 179(1):53-63. PubMed ID: 17923529
[TBL] [Abstract][Full Text] [Related]
14. The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.
Neff NF; Ellis NA; Ye TZ; Noonan J; Huang K; Sanz M; Proytcheva M
Mol Biol Cell; 1999 Mar; 10(3):665-76. PubMed ID: 10069810
[TBL] [Abstract][Full Text] [Related]
15. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.
Roa BB; Savino CV; Richards CS
Genet Test; 1999; 3(2):219-21. PubMed ID: 10464671
[TBL] [Abstract][Full Text] [Related]
16. Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
Mirzaei H; Schmidt KH
Proc Natl Acad Sci U S A; 2012 Nov; 109(47):19357-62. PubMed ID: 23129629
[TBL] [Abstract][Full Text] [Related]
17. Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.
Ellis NA; Ciocci S; German J
Hum Genet; 2001 Feb; 108(2):167-73. PubMed ID: 11281456
[TBL] [Abstract][Full Text] [Related]
18. The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability.
Yankiwski V; Noonan JP; Neff NF
BMC Cell Biol; 2001; 2():11. PubMed ID: 11472631
[TBL] [Abstract][Full Text] [Related]
19. Bloom syndrome: is the gene mapped to the point?
Bamezai R
Indian J Exp Biol; 1996 Apr; 34(4):298-301. PubMed ID: 8698416
[TBL] [Abstract][Full Text] [Related]
20. Biochemical properties of naturally occurring human bloom helicase variants.
Cueny RR; Varma S; Schmidt KH; Keck JL
PLoS One; 2023; 18(6):e0281524. PubMed ID: 37267408
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]