Works matching DE "BLOOM syndrome"

Results: 65

Keeping ribosomal DNA intact: a repeating challenge.

Published in:

Chromosome Research, 2019, v. 27, n. 1/2, p. 57, doi. 10.1007/s10577-018-9594-z

By:

Warmerdam, Daniël O.;
Wolthuis, Rob M. F.

Publication type:

Article

Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer.

Published in:

2017

By:

Votino, Carolina;
Laudanna, Carmelo;
Parcesepe, Pietro;
Giordano, Guido;
Remo, Andrea;
Manfrin, Erminia;
Pancione, Massimo

Publication type:

journal article

Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome.

Published in:

Case Reports in Surgery, 2016, p. 1, doi. 10.1155/2016/3176842

By:

Martinez, Carlos Augusto Real;
Pinheiro, Lilian Vital;
Rossi, Debora Helena;
Camargo, Michel Gardere;
Ayrizono, Maria de Lourdes Setsuko;
Leal, Raquel Franco;
Coy, Cláudio Saddy Rodrigues

Publication type:

Article

Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression.

Published in:

Oncogene, 2015, v. 34, n. 14, p. 1780, doi. 10.1038/onc.2014.121

By:

El Ghamrasni, S;
Cardoso, R;
Halaby, M J;
Zeegers, D;
Harding, S;
Kumareswaran, R;
Yavorska, T;
Chami, N;
Jurisicova, A;
Sanchez, O;
Hande, M P;
Bristow, R;
Hakem, R;
Hakem, A

Publication type:

Article

Time to Bloom.

Published in:

Genome Integrity, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2041-9414-1-14

By:

Tikoo, Shweta;
Sengupta, Sagar

Publication type:

Article

Regulation of BLM Nucleolar Localization.

Published in:

Genes, 2016, v. 7, n. 9, p. 69, doi. 10.3390/genes7090069

By:

Tangeman, Larissa;
McIlhatton, Michael A.;
Grierson, Patrick;
Groden, Joanna;
Acharya, Samir

Publication type:

Article

Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge.

Published in:

2019

By:

Chavez-Alvarez, Sonia;
Villarreal-Martinez, Alejandra;
Del Roble Velasco-Campos, Ma;
Moreno-Vega, Isabel;
Martinez-de-Villarreal, Laura Elia;
Herz-Ruelas, Maira;
Ocampo-Candiani, Jorge;
Campos-Acevedo, Luis Daniel

Publication type:

Case Study

Bloom Syndrome Radials Are Predominantly Non-Homologous and Are Suppressed by Phosphorylated BLM.

Published in:

Cytogenetic & Genome Research, 2015, v. 144, n. 4, p. 255, doi. 10.1159/000375247

By:

Owen, Nichole;
Hejna, James;
Rennie, Scott;
Mitchell, asia;
Hanlon Newell, amy;
Ziaie, Navid;
Moses, Robb E.;
Olson, Susan B.

Publication type:

Article

THE PROCESS OF ENHANCING A GERIATRIC MODULE IN UNDERGRADUATE PHYSIOTHERAPY EDUCATION IN SOUTH AFRICA - PERCEIVED ATTITUDES TOWARDS AGEING AMONG COMMUNITY-DWELLING ELDERLY PERSONS IN CAPE TOWN.

Published in:

2014

By:

Amosun, S. L.

Publication type:

Journal Article

Characterization of the <i>Caenorhabditis elegans</i> HIM-6/BLM Helicase: Unwinding Recombination Intermediates.

Published in:

PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102402

By:

Jung, Hana;
Lee, Jin A;
Choi, Seoyoon;
Lee, Hyunwoo;
Ahn, Byungchan

Publication type:

Article

Bloom's Syndrome and PICH Helicases Cooperate with Topoisomerase IIα in Centromere Disjunction before Anaphase.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0033905

By:

Rouzeau, Sébastien;
Cordelières, Fabrice P.;
Buhagiar-Labarchède, Géraldine;
Hurbain, Ilse;
Onclercq-Delic, Rosine;
Gemble, Simon;
Magnaghi-Jaulin, Laura;
Jaulin, Christian;
Amor-Guéret, Mounira

Publication type:

Article

The Werner Syndrome Protein Is Distinguished from the Bloom Syndrome Protein by Its Capacity to Tightly Bind Diverse DNA Structures.

Published in:

PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030189

By:

Kamath-Loeb, Ashwini;
Loeb, Lawrence A.;
Fry, Michael

Publication type:

Article

A PiggyBac-Based Recessive Screening Method to Identify Pluripotency Regulators.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018189

By:

Ge Guo;
Yue Huang;
Humphreys, Peter;
Xiaozhong Wang;
Smith, Austin

Publication type:

Article

Regulatory controls for direct-to-consumer genetic tests: a case study on how the FDA exercised its authority.

Published in:

New Genetics & Society, 2017, v. 36, n. 3, p. 209, doi. 10.1080/14636778.2017.1354690

By:

Curnutte, Margaret

Publication type:

Article

The effect of enteral nutrition supplements on serum voriconazole levels.

Published in:

Journal of Oncology Pharmacy Practice, 2012, v. 18, n. 1, p. 128, doi. 10.1177/1078155210396576

By:

Williams, Devona

Publication type:

Article

FDA Okays First Direct-to-Consumer Genetic Test.

Published in:

JAMA: Journal of the American Medical Association, 2015, v. 313, n. 13, p. 1306, doi. 10.1001/jama.2015.2809

By:

Rubin, Rita

Publication type:

Article

At-Risk Populations for Osteosarcoma: The Syndromes and Beyond.

Published in:

Sarcoma, 2012, p. 1, doi. 10.1155/2012/152382

By:

Calvert, George T.;
Lor Randall, R.;
Jones, Kevin B.;
Cannon-Albright, Lisa;
Lessnick, Stephen;
Schiffman, Joshua D.

Publication type:

Article

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.

Published in:

PLoS Genetics, 2016, v. 12, n. 12, p. 1, doi. 10.1371/journal.pgen.1006483

By:

Hudson, Damien F.;
Amor, David J.;
Zhang, Tao;
Kalitsis, Paul;
Boys, Amber;
Butler, Kathy;
Williams, Lorna

Publication type:

Article

key points.

Published in:: Practitioner, 2017, v. 261, n. 1800, p. 26
Publication type:: Article

Functions of the Bloom syndrome helicase N-terminal intrinsically disordered region.

Published in:

Genetics, 2025, v. 229, n. 3, p. 1, doi. 10.1093/genetics/iyaf005

By:

Bereda, Colleen C;
Dewey, Evan B;
Nasr, Mohamed A;
Chirasani, Venkat R;
Sekelsky, Jeff

Publication type:

Article

Drosophila FANCM Helicase Prevents Spontaneous Mitotic Crossovers Generated by the MUS81 and SLX1 Nucleases.

Published in:

Genetics, 2014, v. 198, n. 3, p. 935, doi. 10.1534/genetics.114.168096

By:

Kuo, H. Kenny;
McMahan, Susan;
Rota, Christopher M.;
Kohl, Kathryn P.;
Sekelsky, Jeff

Publication type:

Article

Sources and Structures of Mitotic Crossovers That Arise When BLM Helicase Is Absent in Drosophila.

Published in:

Genetics, 2014, v. 196, n. 1, p. 107, doi. 10.1534/genetics.113.158618

By:

LaFave, Matthew C.;
Andersen, Sabrina L.;
Stoffregen, Eric P.;
Holsclaw, Julie K.;
Kohl, Kathryn P.;
Overton, Lewis J.;
Sekelsky, Jeff

Publication type:

Article

Resection Activity of the Sgs1 Helicase Alters the Affinity of DNA Ends for Homologous Recombination Proteins in Saccharomyces cerevisiae.

Published in:

Genetics, 2013, v. 195, n. 4, p. 1241, doi. 10.1534/genetics.113.157370

By:

Bernstein, Kara A.;
Mimitou, Eleni P.;
Mihalevic, Michael J.;
Huan Chen;
Sunjaveric, Ivana;
Symington, Lorraine S.;
Rothstein, Rodney

Publication type:

Article

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

Published in:

Scientific Reports, 2015, p. 14060, doi. 10.1038/srep14060

By:

de Voer, Richarda M.;
Hahn, Marc-Manuel;
Mensenkamp, Arjen R.;
Hoischen, Alexander;
Gilissen, Christian;
Henkes, Arjen;
Spruijt, Liesbeth;
van Zelst-Stams, Wendy A.;
Marleen Kets, C.;
Verwiel, Eugene T.;
Nagtegaal, Iris D.;
Schackert, Hans K.;
van Kessel, Ad Geurts;
Hoogerbrugge, Nicoline;
Ligtenberg, Marjolijn J.L.;
Kuiper, Roland P.

Publication type:

Article

MRN complex-dependent recruitment of ubiquitylated BLM helicase to DSBs negatively regulates DNA repair pathways.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03393-8

By:

Tripathi, Vivek;
Agarwal, Himanshi;
Priya, Swati;
Batra, Harish;
Modi, Priyanka;
Pandey, Monica;
Saha, Dhurjhoti;
Raghavan, Sathees C.;
Sengupta, Sagar

Publication type:

Article

Bloom Syndrome: Understanding Unique Cancer Risk and Updated Cancer Screening Recommendations.

Published in:

Pediatric Nursing, 2025, v. 51, n. 2, p. 75, doi. 10.62116/PNJ.2025.51.2.75

By:

Mounitz, Dina

Publication type:

Article

The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder?

Published in:

Turkish Journal of Pediatrics, 2014, v. 56, n. 3, p. 327, doi. 10.24953/turkjped.2014.1376

By:

Aslan, Deniz

Publication type:

Article

The Chromatin Assembly Factor 1 Promotes Rad51-Dependent Template Switches at Replication Forks by Counteracting D-Loop Disassembly by the RecQ-Type Helicase Rqh1.

Published in:

PLoS Biology, 2014, v. 12, n. 10, p. 1, doi. 10.1371/journal.pbio.1001968

By:

Pietrobon, Violena;
Fréon, Karine;
Hardy, Julien;
Costes, Audrey;
Iraqui, Ismail;
Ochsenbein, Françoise;
Lambert, Sarah A.E.

Publication type:

Article

Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 106, doi. 10.1002/mgg3.188

By:

Shastri, Vivek M.;
Schmidt, Kristina H.

Publication type:

Article

A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 363, doi. 10.1002/mgg3.148

By:

Perreault‐Micale, Cynthia;
Davie, Jocelyn;
Breton, Benjamin;
Hallam, Stephanie;
Greger, Valerie

Publication type:

Article

Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81075-0

By:

Subramanian, Veena;
Rodemoyer, Brian;
Shastri, Vivek;
Rasmussen, Lene J.;
Desler, Claus;
Schmidt, Kristina H.

Publication type:

Article

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69033-8

By:

Alzahrani, Faisal A.;
Ahmed, Firoz;
Sharma, Monika;
Rehan, Mohd;
Mahfuz, Maryam;
Baeshen, Mohammed N.;
Hawsawi, Yousef;
Almatrafi, Ahmed;
Alsagaby, Suliman Abdallah;
Kamal, Mohammad Azhar;
Warsi, Mohiuddin Khan;
Choudhry, Hani;
Jamal, Mohammad Sarwar

Publication type:

Article

Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein.

Published in:

BioEssays, 2017, v. 39, n. 9, p. n/a, doi. 10.1002/bies.201700073

By:

Hatkevich, Talia;
Sekelsky, Jeff

Publication type:

Article

Gender Differences in Soft Tissue and Bone Sarcoma: A Narrative Review.

Published in:

Cancers, 2024, v. 16, n. 1, p. 201, doi. 10.3390/cancers16010201

By:

Cosci, Ilaria;
Del Fiore, Paolo;
Mocellin, Simone;
Ferlin, Alberto

Publication type:

Article

Inherited Variants in BLM and the Risk and Clinical Characteristics of Breast Cancer.

Published in:

Cancers, 2019, v. 11, n. 10, p. 1548, doi. 10.3390/cancers11101548

By:

Kluźniak, Wojciech;
Wokołorczyk, Dominika;
Rusak, Bogna;
Huzarski, Tomasz;
Kashyap, Aniruddh;
Stempa, Klaudia;
Rudnicka, Helena;
Jakubowska, Anna;
Szwiec, Marek;
Morawska, Sylwia;
Gliniewicz, Katarzyna;
Mordak, Karina;
Stawicka, Małgorzata;
Jarkiewicz-Tretyn, Joanna;
Cechowska, Magdalena;
Domagała, Paweł;
Dębniak, Tadeusz;
Lener, Marcin;
Gronwald, Jacek;
Lubiński, Jan

Publication type:

Article

A Young Diabetic Case with Bloom Syndrome.

Published in:

2015

By:

Kutbay, Nilüfer Özdemir;
Yürekli, Banu Şarer;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Çoğulu, Özgür;
Özgen, A. Gökhan;
Saygılı, L. Füsun

Publication type:

Abstract

A Young Diabetic Case with Bloom Syndrome.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 42

By:

Kutbay, Nilüfer Özdemir;
Yürekli, Banu Şarer;
Erdoğan, Mehmet;
Çetinkalp, Şevki;
Çoğulu, Özgür;
Özgen, A. Gökhan;
Saygılı, L. Füsun

Publication type:

Article

Purification and enzymatic characterization of Gallus gallus BLM helicase.

Published in:

Journal of Biochemistry, 2017, v. 162, n. 3, p. 183, doi. 10.1093/jb/mvx013

By:

Jing Shi;
Na-Nv Liu;
Yan-Tao Yang;
Xu-Guang Xi

Publication type:

Article

Functions of RecQ Family Helicases: Possible Involvement of Bloom's and Werner's Syndrome Gene Products in Guarding Genome Integrity during DNA Replication.

Published in:

Journal of Biochemistry, 2001, v. 129, n. 4, p. 501, doi. 10.1093/oxfordjournals.jbchem.a002883

By:

Enomoto, Takemi

Publication type:

Article

Beginning at the end: DNA replication within the telomere.

Published in:

Journal of Cell Biology, 2015, v. 210, n. 2, p. 177, doi. 10.1083/jcb.201506078

By:

Gerbi, Susan A.

Publication type:

Article

BLM helicase facilitates telomere replication during leading strand synthesis of telomeres.

Published in:

Journal of Cell Biology, 2015, v. 210, n. 2, p. 191, doi. 10.1083/jcb.201410061

By:

Drosopoulos, William C.;
Kosiyatrakul, Settapong T.;
Schildkraut, Carl L.

Publication type:

Article

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.

Published in:

Molecular Biology Reports, 2014, v. 41, n. 11, p. 7373, doi. 10.1007/s11033-014-3624-5

By:

Ben Salah, Ghada;
Hadj Salem, Ikhlas;
Masmoudi, Abderrahmen;
Kallabi, Fakhri;
Turki, Hamida;
Fakhfakh, Faiza;
Ayadi, Hamadi;
Kamoun, Hassen

Publication type:

Article

On BLM helicase in recombination-mediated telomere maintenance.

Published in:

Molecular Biology Reports, 2013, v. 40, n. 4, p. 3049, doi. 10.1007/s11033-012-2379-0

By:

Rezazadeh, Sarallah

Publication type:

Article

Adult learning theories: Implications for learning and teaching in medical education: AMEE Guide No. 83.

Published in:

Medical Teacher, 2013, v. 35, n. 11, p. e1561, doi. 10.3109/0142159X.2013.828153

By:

Taylor, David C. M.;
Hamdy, Hossam

Publication type:

Article

Structure of the RecQ C-terminal Domain of Human Bloom Syndrome Protein.

Published in:

Scientific Reports, 2013, p. 1, doi. 10.1038/srep03294

By:

Sun-Yong Kim;
Toshio Hakoshima;
Ken Kitano

Publication type:

Article

"Genetic tumor syndromes of the head and neck: Update in the genomic era".

Published in:

Neuroradiology Journal, 2025, v. 38, n. 3, p. 277, doi. 10.1177/19714009241269462

By:

Brahmbhatt, Sneh;
Agarwal, Amit;
Shetty, Dhruv;
Desai, Amit;
Bhatt, Alok A

Publication type:

Article

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.

Published in:

BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/8193892

By:

García-de Teresa, Benilde;
Hernández-Gómez, Mariana;
Frías, Sara

Publication type:

Article

Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings.

Published in:

International Journal of Dermatology, 2016, v. 55, n. 6, p. 687, doi. 10.1111/ijd.13009

By:

Vojtková, Jarmila;
Čiljaková, Miriam;
Jeseňák, Miloš;
Mišovicová, Nadežda;
Bánovčin, Peter

Publication type:

Article

Bloom syndrome.

Published in:

International Journal of Dermatology, 2014, v. 53, n. 7, p. 798, doi. 10.1111/ijd.12408

By:

Arora, Harleen;
Chacon, Anna H.;
Choudhary, Sonal;
McLeod, Michael P.;
Meshkov, Lauren;
Nouri, Keyvan;
Izakovic, Jan

Publication type:

Article

Bloom syndrome: report of two cases in siblings.

Published in:

International Journal of Dermatology, 2013, v. 52, n. 8, p. 990, doi. 10.1111/j.1365-4632.2011.05385.x

By:

Shah, Hita;
Sheth, Frenny J.;
Pandit, Vishalakshi S.;
Langanecha, Bhavik

Publication type:

Article