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Items: 1 to 20 of 119

1.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.

Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13.

2.

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON.

Abdelrahman HA, John A, Ali BR, Al-Gazali L.

Mol Syndromol. 2019 May;10(3):171-176. doi: 10.1159/000497337. Epub 2019 Mar 6.

PMID:
31191207
3.

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.

Schulz S, Mensah MA, de Vries H, Fröber R, Romeike B, Schneider U, Borte S, Schindler D, Kentouche K.

Eur J Hum Genet. 2018 Sep;26(9):1282-1287. doi: 10.1038/s41431-018-0128-0. Epub 2018 May 14.

PMID:
29760432
4.

Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity.

Kottemann MC, Conti BA, Lach FP, Smogorzewska A.

Mol Cell. 2018 Jan 4;69(1):24-35.e5. doi: 10.1016/j.molcel.2017.11.035. Epub 2017 Dec 28.

5.

The ATR pathway: fine-tuning the fork.

Paulsen RD, Cimprich KA.

DNA Repair (Amst). 2007 Jul 1;6(7):953-66. Epub 2007 May 24. Review.

PMID:
17531546
6.

PARI Regulates Stalled Replication Fork Processing To Maintain Genome Stability upon Replication Stress in Mice.

Mochizuki AL, Katanaya A, Hayashi E, Hosokawa M, Moribe E, Motegi A, Ishiai M, Takata M, Kondoh G, Watanabe H, Nakatsuji N, Chuma S.

Mol Cell Biol. 2017 Nov 13;37(23). pii: e00117-17. doi: 10.1128/MCB.00117-17. Print 2017 Dec 1.

7.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA.

Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19.

8.

A tough row to hoe: when replication forks encounter DNA damage.

Patel DR, Weiss RS.

Biochem Soc Trans. 2018 Dec 17;46(6):1643-1651. doi: 10.1042/BST20180308. Epub 2018 Dec 4. Review.

PMID:
30514768
9.

S-phase-dependent p50/NF-кB1 phosphorylation in response to ATR and replication stress acts to maintain genomic stability.

Crawley CD, Kang S, Bernal GM, Wahlstrom JS, Voce DJ, Cahill KE, Garofalo A, Raleigh DR, Weichselbaum RR, Yamini B.

Cell Cycle. 2015;14(4):566-76. doi: 10.4161/15384101.2014.991166.

10.

Fork restart protein, PriA, binds around oriC after depletion of nucleotide precursors: Replication fork arrest near the replication origin.

Tanaka T, Nishito Y, Masai H.

Biochem Biophys Res Commun. 2016 Feb 12;470(3):546-551. doi: 10.1016/j.bbrc.2016.01.108. Epub 2016 Jan 20.

PMID:
26801562
11.

BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks.

Higgs MR, Reynolds JJ, Winczura A, Blackford AN, Borel V, Miller ES, Zlatanou A, Nieminuszczy J, Ryan EL, Davies NJ, Stankovic T, Boulton SJ, Niedzwiedz W, Stewart GS.

Mol Cell. 2015 Aug 6;59(3):462-77. doi: 10.1016/j.molcel.2015.06.007. Epub 2015 Jul 9.

12.

WRNIP1 protects stalled forks from degradation and promotes fork restart after replication stress.

Leuzzi G, Marabitti V, Pichierri P, Franchitto A.

EMBO J. 2016 Jul 1;35(13):1437-51. doi: 10.15252/embj.201593265. Epub 2016 May 30.

13.

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.

Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P.

Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20.

PMID:
23111928
14.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS.

Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.

15.

Impediments to replication fork movement: stabilisation, reactivation and genome instability.

Lambert S, Carr AM.

Chromosoma. 2013 Mar;122(1-2):33-45. doi: 10.1007/s00412-013-0398-9. Epub 2013 Feb 28. Review.

PMID:
23446515
16.

ETAA1 acts at stalled replication forks to maintain genome integrity.

Bass TE, Luzwick JW, Kavanaugh G, Carroll C, Dungrawala H, Glick GG, Feldkamp MD, Putney R, Chazin WJ, Cortez D.

Nat Cell Biol. 2016 Nov;18(11):1185-1195. doi: 10.1038/ncb3415. Epub 2016 Oct 10.

17.

Mycobacterium tuberculosis RecG protein but not RuvAB or RecA protein is efficient at remodeling the stalled replication forks: implications for multiple mechanisms of replication restart in mycobacteria.

Thakur RS, Basavaraju S, Khanduja JS, Muniyappa K, Nagaraju G.

J Biol Chem. 2015 Oct 2;290(40):24119-39. doi: 10.1074/jbc.M115.671164. Epub 2015 Aug 14.

18.

Mechanisms of replication fork protection: a safeguard for genome stability.

Errico A, Costanzo V.

Crit Rev Biochem Mol Biol. 2012 May-Jun;47(3):222-35. doi: 10.3109/10409238.2012.655374. Epub 2012 Feb 11. Review.

PMID:
22324461
19.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.

Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.

20.

Restoration of Replication Fork Stability in BRCA1- and BRCA2-Deficient Cells by Inactivation of SNF2-Family Fork Remodelers.

Taglialatela A, Alvarez S, Leuzzi G, Sannino V, Ranjha L, Huang JW, Madubata C, Anand R, Levy B, Rabadan R, Cejka P, Costanzo V, Ciccia A.

Mol Cell. 2017 Oct 19;68(2):414-430.e8. doi: 10.1016/j.molcel.2017.09.036.

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