Works matching Bloom syndrome

Results: 520

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.

Published in:

2013

By:

Borges Moreira, Marilia;
Quaio, Caio Robledo D. C.;
Zandoná-Teixeira, Aline Cristina;
Monteiro Novo-Filho, Gil;
Zanardo, Evelin Aline;
Domenici Kulikowski, Leslie;
Chong Ae Kim

Publication type:

Case Study

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

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

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

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

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

miR-522-3p Promotes Tumorigenesis in Human Colorectal Cancer via Targeting Bloom Syndrome Protein.

Published in:

Oncology Research, 2018, v. 26, n. 7, p. 1113, doi. 10.3727/096504018X15166199939341

By:

Feng Shuai;
Bo Wang;
Shuxiao Dong

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

Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 2, p. 1, doi. 10.1101/mcs.a005751

By:

Sybouts, Erin H.;
Brown, Adam D.;
Falcon-Cantrill, Maria G.;
Thomas, Martha H.;
DeNapoli, Thomas;
Voeller, Julie;
Yidong Chen;
Tomlinson, Gail E.;
Bishop, Alexander J. R.

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

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

Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes.

Published in:

BMC Molecular Biology, 2012, v. 13, n. 1, p. 33, doi. 10.1186/1471-2199-13-33

By:

Killen, Michael W.;
Stults, Dawn M.;
Wilson, William A.;
Pierce, Andrew J.

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

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

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

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

Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2014, v. 28, n. 10, p. 1318, doi. 10.1111/jdv.12279

By:

Salah, G. Ben;
Salem, I. Hadj;
Masmoudi, A.;
Rhouma, B. Ben;
Turki, H.;
Fakhfakh, F.;
Ayadi, H.;
Kamoun, H.

Publication type:

Article

Bloom Syndrome with Extensive Pulmonary Involvement in a Child.

Published in:

Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152593

By:

Relhan, Vineet;
Sinha, Surabhi;
Bhatnagar, Tarun;
Garg, Vijay K.;
Kochhar, Aditi

Publication type:

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

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

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

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

The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome.

Published in:

2022

By:

FOCSA, Ina-Ofelia;
TUTULAN-CUNITA, Andreea;
PAVEL, Anca;
PREPELITA, Diana;
BRATU, Diana;
BOHILTEA, Laurentiu Camil;
STAMBOULI, Danae

Publication type:

Case Study

Solution structure of the HRDC domain of human Bloom syndrome protein BLM.

Published in:

Journal of Biochemistry, 2010, v. 148, n. 4, p. 517, doi. 10.1093/jb/mvq097

By:

Sato, Akiko;
Mishima, Masaki;
Nagai, Aki;
Kim, Sun-Yong;
Ito, Yutaka;
Hakoshima, Toshio;
Jee, Jun-Goo;
Kitano, Ken

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

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.

Published in:

Molecular Syndromology, 2020, v. 11, n. 2, p. 73, doi. 10.1159/000507006

By:

Trizuljak, Jakub;
Petruchová, Terezie;
Blaháková, Ivona;
Vrzalová, Zuzana;
Hořínová, Věra;
Doubková, Martina;
Michalka, Jozef;
Mayer, Jiří;
Pospíšilová, Šárka;
Doubek, Michael

Publication type:

Article

Bloom’s Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.

Published in:

Molecular Syndromology, 2017, v. 8, n. 1, p. 4, doi. 10.1159/000452082

By:

Cunniff, Christopher;
Bassetti, Jennifer A.;
Ellis, Nathan A.

Publication type:

Article

Immunodeficiency in Bloom's Syndrome.

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 35, doi. 10.1007/s10875-017-0454-y

By:

Schoenaker, Michiel H. D.;
Henriet, Stefanie S.;
Zonderland, Jip;
van Deuren, Marcel;
Pan-Hammarström, Qiang;
Posthumus-van Sluijs, Sandra J.;
Pico-Knijnenburg, Ingrid;
Weemaes, Corry M. R.;
IJspeert, Hanna

Publication type:

Article

Critical Interaction Domains between Bloom Syndrome Protein and RAD51.

Published in:

Protein Journal, 2011, v. 30, n. 1, p. 1, doi. 10.1007/s10930-010-9295-8

By:

Bergeron, Krystal L.;
Murphy, Eileen L.;
Brown, Lily W.;
Almeida, Karen H.

Publication type:

Article

False-Positive Quadruple Screen Test for Trisomy 18 in a Patient with a Fetus with Bloom’s Syndrome.

Published in:

Fetal Diagnosis & Therapy, 2007, v. 22, n. 4, p. 318, doi. 10.1159/000100799

By:

Baxi, Laxmi;
Brown, Stephen;
Thaker, Harshwardhan M.

Publication type:

Article

Reduced secreted μ mRNA synthesis in selective IgM deficiency of Bloom's syndrome.

Published in:

Clinical & Experimental Immunology, 1992, v. 88, n. 1, p. 35

By:

Kondo, N.;
Ozawa, T.;
Kato, Y.;
Motoyoshi, F.;
Kasahara, K.;
Kameyama, T.;
Orii, T.

Publication type:

Article

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

Published in:

Molecular Medicine Reports, 2023, v. 27, n. 5, p. N.PAG, doi. 10.3892/mmr.2023.12997

By:

Wayhelova, Marketa;
Vallova, Vladimira;
Broz, Petr;
Mikulasova, Aneta;
Machackova, Dominika;
Filkova, Hana Dynkova;
Smetana, Jan;
Takacsova, Alena;
Gaillyova, Renata;
Kuglik, Petr

Publication type:

Article

Bloom sendromu: İki kardeşin sunumu.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2010, v. 8, n. 1, p. 64

By:

Bariş, Safa;
Karakoç^Aydinner, Elif;
Özen, Ahmet;
Özdemır, Cevdet;
Bahçecıler, Nerin N.;
Barlan, Işıl B.

Publication type:

Article

Bloom syndrome with lung involvement.

Published in:

Lung India, 2009, v. 26, n. 3, p. 92, doi. 10.4103/0970-2113.53234

By:

Nair, Girija;
Lobo, Ivona;
Jayalaksmi, T. K.;
Uppe, Abhay;
Jindal, Savita;
Chandra, Abhishek;
Swami, Shivani

Publication type:

Article

Refractory gastroduodenal ulcers: A rare complication with Bloom syndrome.

Published in:

2022

By:

Usami, Masaaki;
Ikawa, Yasuhiro;
Sakai, Yuta;
Fujiki, Toshihiro;
Wada, Taizo

Publication type:

Case Study

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

Rare case of myelodysplastic syndrome with excess blasts 2 developing after adjuvant chemoradiotherapy for triple-negative breast cancer in a patient with Bloom syndrome.

Published in:

Strahlentherapie und Onkologie, 2024, v. 200, n. 11, p. 986, doi. 10.1007/s00066-024-02257-z

By:

Gürbüz, Ali Fuat;
Eryılmaz, Melek Karakurt;
Yıldız, Oğuzhan;
Kılınç, Fahriye;
Araz, Murat;
Artaç, Mehmet

Publication type:

Article

Somatic hypermutation of immunoglobulin genes is independent of the Bloom's syndrome DNA helicase.

Published in:

Clinical & Experimental Immunology, 1998, v. 112, n. 2, p. 248, doi. 10.1046/j.1365-2249.1998.00575.x

By:

Sack;
Liu;
German;
Green;
Green

Publication type:

Article

Lens Opacities in Bloom Syndrome: Case Report and Review of the Literature.

Published in:

Ophthalmic Genetics, 2007, v. 28, n. 3, p. 175, doi. 10.1080/13816810701389685

By:

Cefle, Kivanc;
Ozturk, Sukru;
Gozum, Nilufer;
Duman, Nilgun;
Mantar, Ferhan;
Guler, Kerim;
Palanduz, Sukru

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

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

Constitutive DNA damage is linked to DNA replication abnormalities in Bloom's syndrome cells.

Published in:

Oncogene, 2003, v. 22, n. 54, p. 8749, doi. 10.1038/sj.onc.1206970

By:

Rassool, Feyruz V.;
North, Philip S.;
Mufti, Ghulam J.;
Hickson, Ian D.

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

First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.

Published in:

Molecular Syndromology, 2017, v. 8, n. 2, p. 103, doi. 10.1159/000454820

By:

Suspitsin, Evgeny N.;
Sibgatullina, Farida I.;
Lyazina, Lydia V.;
Imyanitov, Evgeny N.

Publication type:

Article

Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.

Published in:

Clinical Genetics, 2022, v. 101, n. 5/6, p. 559, doi. 10.1111/cge.14125

By:

Gönenc, Ipek Ilgin;
Elcioglu, Nursel H.;
Grijalva, Carolina Martinez;
Aras, Seda;
Großmann, Nadine;
Praulich, Inka;
Altmüller, Janine;
Kaulfuß, Silke;
Yun Li;
Nürnberg, Peter;
Burfeind, Peter;
Yigit, Gökhan;
Wollnik, Bernd

Publication type:

Article

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 292, doi. 10.1111/cge.13859

By:

Backers, Lynn;
Parton, Bram;
De Bruyne, Marieke;
Tavernier, Simon J.;
Van Den Bogaert, Kris;
Lambrecht, Bart N.;
Haerynck, Filomeen;
Claes, Kathleen B.M.

Publication type:

Article

Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.

Published in:

Oncogene, 1998, v. 17, n. 20, p. 2565, doi. 10.1038/sj.onc.1202389

By:

Bahr, Anne;
De Graeve, Fabienne;
Kedinger, Claude;
Chatton, Bruno

Publication type:

Article