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Items: 1 to 20 of 957

1.
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers
Isabella Lin, Angela Wei, Tsumugi A Gebo, PC Boutros, Maeve Flanagan, Nicole Kucine, C Cunniff, VA Arboleda, VY Chang
Version 1. medRxiv. Preprint. 2024 Feb 6. doi: 10.1101/2024.02.02.24302163
PMCID:
PMC10871368
ArticlePDF–904K
2.
Bloom syndrome patients and mice display accelerated epigenetic aging
Jamie Lee, Joshua Zhang, Maeve Flanagan, Julian A. Martinez, Christopher Cunniff, Nicole Kucine, Ake T. Lu, Amin Haghani, Juozas Gordevičius, Steve Horvath, Vivian Y. Chang
Aging Cell. 2023 Oct; 22(10): e13964. Published online 2023 Aug 18. doi: 10.1111/acel.13964
PMCID:
PMC10577546
ArticlePDF–9.2M
3.
KNO1‐mediated autophagic degradation of the Bloom syndrome complex component RMI1 promotes homologous recombination
Poyu Chen, Nancy De Winne, Geert De Jaeger, Masaki Ito, Maren Heese, Arp Schnittger
EMBO J. 2023 May; 42(10): e111980. Published online 2023 Mar 27. doi: 10.15252/embj.2022111980
PMCID:
PMC10183828
ArticlePDF–4.8M
4.
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Dominika Machackova, Hana Dynkova Filkova, Jan Smetana, Alena Takacsova, Renata Gaillyova, Petr Kuglik
Mol Med Rep. 2023 May; 27(5): 110. Published online 2023 Apr 12. doi: 10.3892/mmr.2023.12997
PMCID:
PMC10119849
ArticlePDF–1.2M
5.
Refractory gastroduodenal ulcers: A rare complication with Bloom syndrome
Masaaki Usami, Yasuhiro Ikawa, Yuta Sakai, Toshihiro Fujiki, Taizo Wada
Clin Case Rep. 2022 Sep; 10(9): 10.1002/ccr3.6141. Published online 2022 Sep 12. doi: 10.1002/ccr3.6141
PMCID:
PMC9465695
ArticlePDF–1.8M
6.
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
Ipek Ilgin Gönenc, Alexander Wolff, Julia Schmidt, Arne Zibat, Christian Müller, Lukas Cyganek, Loukas Argyriou, Markus Räschle, Gökhan Yigit, Bernd Wollnik
Hum Mol Genet. 2022 Jul 1; 31(13): 2185–2193. Published online 2022 Jan 31. doi: 10.1093/hmg/ddab373
PMCID:
PMC9262399
ArticlePDF–990K
7.
Multidisciplinary Management of Endocrinopathies and Treatment-Related Toxicities in Patients with Bloom Syndrome and Cancer
Carolyn Fein Levy, Lubaina S. Presswala, Alana Slomovic, Jessica Stiefel, Rifka Schulman-Rosenbaum
Pediatr Blood Cancer. Author manuscript; available in PMC 2022 Jun 7.
Published in final edited form as: Pediatr Blood Cancer. 2021 Feb; 68(2): e28815. Published online 2020 Nov 23. doi: 10.1002/pbc.28815
PMCID:
PMC9171660
ArticlePDF–476K
8.
Bloom syndrome helicase contributes to germ line development and longevity in zebrafish
Tamás Annus, Dalma Müller, Bálint Jezsó, György Ullaga, Barnabás Németh, Gábor M. Harami, László Orbán, Mihály Kovács, Máté Varga
Cell Death Dis. 2022 Apr; 13(4): 363. Published online 2022 Apr 18. doi: 10.1038/s41419-022-04815-8
PMCID:
PMC9016072
ArticlePDF–6.2M
9.
New resources for the Drosophila 4th chromosome: FRT101F enabled mitotic clones and Bloom syndrome helicase enabled meiotic recombination
Samuel L Goldsmith, MaryJane Shimell, Petra Tauscher, Samantha M Daly, Osamu Shimmi, Michael B O’Connor, Stuart J Newfeld
G3 (Bethesda) 2022 Apr; 12(4): jkac019. Published online 2022 Jan 27. doi: 10.1093/g3journal/jkac019
PMCID:
PMC8982423
ArticlePDF–1.4M
10.
Mechanism of Bloom syndrome complex assembly required for double Holliday junction dissolution and genome stability
Charlotte Hodson, Jason K. K. Low, Sylvie van Twest, Samuel E. Jones, Paolo Swuec, Vincent Murphy, Kaima Tsukada, Matthew Fawkes, Rohan Bythell-Douglas, Adelina Davies, Jessica K. Holien, Julienne J. O’Rourke, Benjamin L. Parker, Astrid Glaser, Michael W. Parker, Joel P. Mackay, Andrew N. Blackford, Alessandro Costa, Andrew J. Deans
Proc Natl Acad Sci U S A. 2022 Feb 8; 119(6): e2109093119. Published online 2022 Feb 3. doi: 10.1073/pnas.2109093119
PMCID:
PMC8832983
ArticlePDF–2.6M
11.
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
Sue M. Huson, Timo Staab, Marta Pereira, Heather Ward, Roberto Paredes, D. Gareth Evans, Daniel Baumhoer, James O’Sullivan, Ed Cheesman, Detlev Schindler, Stefan Meyer
Fam Cancer. 2022; 21(1): 85–90. Published online 2020 Nov 21. doi: 10.1007/s10689-020-00221-1
Correction in:
Fam Cancer. 2022; 21(1): 91.
PMCID:
PMC8799568
ArticlePDF–1.4M
12.
A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes
Vivek M Shastri, Veena Subramanian, Kristina H Schmidt
Nucleic Acids Res. 2021 Sep 7; 49(15): 8699–8713. Published online 2021 Aug 9. doi: 10.1093/nar/gkab663
PMCID:
PMC8421143
ArticlePDF–3.5M
13.
Case Report: Diabetes in Chinese Bloom Syndrome
Mingqun Deng, Miao Yu, Ruizhi Jiajue, Kai Feng, Xinhua Xiao
Front Endocrinol (Lausanne) 2021; 12: 524242. Published online 2021 Jun 9. doi: 10.3389/fendo.2021.524242
PMCID:
PMC8220076
ArticlePDF–1.6M
14.
Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation
Erin H. Sybouts, Adam D. Brown, Maria G. Falcon-Cantrill, Martha H. Thomas, Thomas DeNapoli, Julie Voeller, Yidong Chen, Gail E. Tomlinson, Alexander J.R. Bishop
Cold Spring Harb Mol Case Stud. 2021 Apr; 7(2): a005751. doi: 10.1101/mcs.a005751
PMCID:
PMC8040734
ArticlePDF–3.4M
15.
Uncovering an allosteric mode of action for a selective inhibitor of human Bloom syndrome protein
Xiangrong Chen, Yusuf I Ali, Charlotte EL Fisher, Raquel Arribas-Bosacoma, Mohan B Rajasekaran, Gareth Williams, Sarah Walker, Jessica R Booth, Jessica JR Hudson, S Mark Roe, Laurence H Pearl, Simon E Ward, Frances MG Pearl, Antony W Oliver
eLife. 2021; 10: e65339. Published online 2021 Mar 1. doi: 10.7554/eLife.65339
PMCID:
PMC7924943
ArticlePDF–3.5M
16.
miR-522-3p Promotes Tumorigenesis in Human Colorectal Cancer via Targeting Bloom Syndrome Protein
Feng Shuai, Bo Wang, Shuxiao Dong
Oncol Res. 2018; 26(7): 1113–1121. Published online 2018 Aug 23. doi: 10.3727/096504018X15166199939341
Retraction in:
Oncol Res. 2022; 28(9): 977.
PMCID:
PMC7844714
Article
17.
The Bloom syndrome complex senses RPA-coated single-stranded DNA to restart stalled replication forks
Ann-Marie K. Shorrocks, Samuel E. Jones, Kaima Tsukada, Carl A. Morrow, Zoulikha Belblidia, Johanna Shen, Iolanda Vendrell, Roman Fischer, Benedikt M. Kessler, Andrew N. Blackford
Nat Commun. 2021; 12: 585. Published online 2021 Jan 26. doi: 10.1038/s41467-020-20818-5
PMCID:
PMC7838300
ArticlePDF–3.1M
18.
Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes
Veena Subramanian, Brian Rodemoyer, Vivek Shastri, Lene J. Rasmussen, Claus Desler, Kristina H. Schmidt
Sci Rep. 2021; 11: 2157. Published online 2021 Jan 25. doi: 10.1038/s41598-021-81075-0
PMCID:
PMC7835382
ArticlePDF–12M
19.
Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin
Jakub Trizuljak, Terezie Petruchová, Ivona Blaháková, Zuzana Vrzalová, Věra Hořínová, Martina Doubková, Jozef Michalka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek
Mol Syndromol. 2020 Jun; 11(2): 73–82. Published online 2020 Mar 21. doi: 10.1159/000507006
PMCID:
PMC7325127
ArticlePDF–2.0M
20.
Recognition and Unfolding of c-MYC and Telomeric G-Quadruplex DNAs by the RecQ C-Terminal Domain of Human Bloom Syndrome Helicase
Sungjin Lee, Jinwoo Kim, Suyeong Han, Chin-Ju Park
ACS Omega. 2020 Jun 23; 5(24): 14513–14522. Published online 2020 Jun 11. doi: 10.1021/acsomega.0c01176
PMCID:
PMC7315595
ArticlePDF–3.4M

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