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Results: 1 to 20 of 40

1.

Phosphorylation of a C-terminal auto-inhibitory domain increases SMARCAL1 activity.

Carroll C, Bansbach CE, Zhao R, Jung SY, Qin J, Cortez D.

Nucleic Acids Res. 2014 Jan;42(2):918-25. doi: 10.1093/nar/gkt929. Epub 2013 Oct 22.

PMID:
24150942
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Bone marrow transplantation in Schimke immuno-osseous dysplasia.

Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF.

Am J Med Genet A. 2013 Oct;161(10):2609-13. doi: 10.1002/ajmg.a.36111. Epub 2013 Aug 15. Review.

PMID:
23950031
[PubMed - indexed for MEDLINE]
3.

ATR phosphorylates SMARCAL1 to prevent replication fork collapse.

Couch FB, Bansbach CE, Driscoll R, Luzwick JW, Glick GG, Bétous R, Carroll CM, Jung SY, Qin J, Cimprich KA, Cortez D.

Genes Dev. 2013 Jul 15;27(14):1610-23. doi: 10.1101/gad.214080.113.

PMID:
23873943
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Substrate-selective repair and restart of replication forks by DNA translocases.

Bétous R, Couch FB, Mason AC, Eichman BF, Manosas M, Cortez D.

Cell Rep. 2013 Jun 27;3(6):1958-69. doi: 10.1016/j.celrep.2013.05.002. Epub 2013 Jun 6.

PMID:
23746452
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Identification and characterization of SMARCAL1 protein complexes.

Bétous R, Glick GG, Zhao R, Cortez D.

PLoS One. 2013 May 9;8(5):e63149. doi: 10.1371/journal.pone.0063149. Print 2013.

PMID:
23671665
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.

Carroll C, Badu-Nkansah A, Hunley T, Baradaran-Heravi A, Cortez D, Frangoul H.

Pediatr Blood Cancer. 2013 Sep;60(9):E88-90. doi: 10.1002/pbc.24542. Epub 2013 Apr 29.

PMID:
23630135
[PubMed - indexed for MEDLINE]
7.
8.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, Bokenkamp A, Bonneau D, Buck A, Charrow J, Cochat P, Cordeiro I, Deschenes G, Fenkçi MS, Frange P, Fründ S, Fryssira H, Guillen-Navarro E, Keller K, Kirmani S, Kobelka C, Lamfers P, Levtchenko E, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Saraiva JM, Semerci CN, Shoemaker L, Stajić N, Stein A, Taha D, Wand D, Zonana J, Lücke T, Boerkoel CF.

Orphanet J Rare Dis. 2012 Sep 22;7:70. doi: 10.1186/1750-1172-7-70.

PMID:
22998683
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Targeting SMARCAL1 as a novel strategy for cancer therapy.

Zhang L, Fan S, Liu H, Huang C.

Biochem Biophys Res Commun. 2012 Oct 19;427(2):232-5. doi: 10.1016/j.bbrc.2012.09.060. Epub 2012 Sep 17. Review.

PMID:
22995303
[PubMed - indexed for MEDLINE]
10.

Dental abnormalities in Schimke immuno-osseous dysplasia.

Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, Fründ S, Fryssira H, Keller K, Kirmani S, Kobelka C, Kohler K, Lewis DB, Massella L, McLeod DR, Milford DV, Nobili F, Olney AH, Semerci CN, Stajic N, Stein A, Taque S, Zonana J, Lücke T, Hendson G, Bonnaure-Mallet M, Boerkoel CF.

J Dent Res. 2012 Jul;91(7 Suppl):29S-37S.

PMID:
22699664
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

Baradaran-Heravi A, Raams A, Lubieniecka J, Cho KS, DeHaai KA, Basiratnia M, Mari PO, Xue Y, Rauth M, Olney AH, Shago M, Choi K, Weksberg RA, Nowaczyk MJ, Wang W, Jaspers NG, Boerkoel CF.

Am J Med Genet A. 2012 Sep;158A(9):2204-13. doi: 10.1002/ajmg.a.35532. Epub 2012 Aug 7.

PMID:
22888040
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Polyubiquitinated PCNA recruits the ZRANB3 translocase to maintain genomic integrity after replication stress.

Ciccia A, Nimonkar AV, Hu Y, Hajdu I, Achar YJ, Izhar L, Petit SA, Adamson B, Yoon JC, Kowalczykowski SC, Livingston DM, Haracska L, Elledge SJ.

Mol Cell. 2012 Aug 10;47(3):396-409. doi: 10.1016/j.molcel.2012.05.024. Epub 2012 Jun 14.

PMID:
22704558
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, Dionis KY, Zonana J, Keller K, Stenzel P, Mayfield C, Lücke T, Bokenkamp A, Marra MA, van Lohuizen M, Lewis DB, Shaw C, Boerkoel CF.

Hum Mol Genet. 2012 Jun 1;21(11):2572-87. doi: 10.1093/hmg/dds083. Epub 2012 Feb 28.

PMID:
22378147
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication.

Bétous R, Mason AC, Rambo RP, Bansbach CE, Badu-Nkansah A, Sirbu BM, Eichman BF, Cortez D.

Genes Dev. 2012 Jan 15;26(2):151-62. doi: 10.1101/gad.178459.111.

PMID:
22279047
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The HARP domain dictates the annealing helicase activity of HARP/SMARCAL1.

Ghosal G, Yuan J, Chen J.

EMBO Rep. 2011 Jun;12(6):574-80. doi: 10.1038/embor.2011.74. Epub 2011 Apr 28.

PMID:
21525954
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

SMARCAL1 and replication stress: an explanation for SIOD?

Bansbach CE, Boerkoel CF, Cortez D.

Nucleus. 2010 May-Jun;1(3):245-8. doi: 10.4161/nucl.1.3.11739. Epub 2010 Feb 16.

PMID:
21327070
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Annealing helicase 2 (AH2), a DNA-rewinding motor with an HNH motif.

Yusufzai T, Kadonaga JT.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):20970-3. doi: 10.1073/pnas.1011196107. Epub 2010 Nov 15.

PMID:
21078962
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient.

Yue Z, Xiong S, Sun L, Huang W, Mo Y, Huang L, Jiang X, Chen S, Hu B, Wang Y.

Nephrol Dial Transplant. 2010 May;25(5):1697-702. doi: 10.1093/ndt/gfq071. Epub 2010 Feb 22.

PMID:
20179009
[PubMed - indexed for MEDLINE]
Free Article
19.

Schimke immunoosseous dysplasia: defining skeletal features.

Hunter KB, Lücke T, Spranger J, Smithson SF, Alpay H, André JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Fründ S, Fryssira H, Goodman D, Helmke K, Hinkelmann B, Lama G, Lamfers P, Loirat C, Majore S, Mayfield C, Pontz BF, Rusu C, Saraiva JM, Schmidt B, Shoemaker L, Sigaudy S, Stajic N, Taha D, Boerkoel CF.

Eur J Pediatr. 2010 Jul;169(7):801-11. doi: 10.1007/s00431-009-1115-9. Epub 2009 Dec 15.

PMID:
20013129
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Identification of SMARCAL1 as a component of the DNA damage response.

Postow L, Woo EM, Chait BT, Funabiki H.

J Biol Chem. 2009 Dec 18;284(51):35951-61. doi: 10.1074/jbc.M109.048330. Epub .

PMID:
19841479
[PubMed - indexed for MEDLINE]
Free PMC Article

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