Works matching Bloom syndrome

Results: 485

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

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

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

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

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

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

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

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 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

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

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

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

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

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

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

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

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

Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication.

Published in:

EMBO Journal, 2010, v. 29, n. 18, p. 3140, doi. 10.1038/emboj.2010.186

By:

Dongyi Xu;
Muniandy, Parameswary;
Leo, Elisabetta;
Jinhu Yin;
Thangavel, Saravanabhavan;
Xi Shen;
Ii, Miki;
Agama, Keli;
Rong Guo;
Fox, III, David;
Meetei, Amom Ruhikanta;
Wilson, Lauren;
Nguyen, Huy;
Weng, Nan-ping;
Brill, Steven J.;
Lei Li;
Vindigni, Alessandro;
Pommier, Yves;
Seidman, Michael;
Weidong Wang

Publication type:

Article

BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity.

Published in:

EMBO Journal, 2005, v. 24, n. 7, p. 1465, doi. 10.1038/sj.emboj.7600622

By:

Jinhu Yin;
Sobeck, Alexandra;
Chang Xu;
Meetei, Amom Ruhikanta;
Hoatlin, Maureen;
Lei Li;
Weidong Wang

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

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

Bloom Syndrome Helicase Compresses Single‐Stranded DNA into Phase‐Separated Condensates.

Published in:

Angewandte Chemie, 2022, v. 134, n. 39, p. 1, doi. 10.1002/ange.202209463

By:

Wang, Teng;
Hu, Jiaojiao;
Li, Yanan;
Bi, Lulu;
Guo, Lijuan;
Jia, Xinshuo;
Zhang, Xia;
Li, Dan;
Hou, Xi‐Miao;
Modesti, Mauro;
Xi, Xu‐Guang;
Liu, Cong;
Sun, Bo

Publication type:

Article

Immunology: Diagnostic relevance of abortion-associated human embryonic antigen expressed on the cell surface of tumour promoter-treated Bloom syndrome cells.

Published in:

Human Reproduction, 1995, v. 10, n. 7, p. 1694

By:

Shiraishi, Yukimasa;
Shiraishi, Yoshiko;
Yamamoto, Dan;
Hasegawa, Toshimi;
Kitamura, Wataru;
Miki, Suzu;
Tanaka, Tadao;
Suzuki, Tomohiko;
Soma, Hiroaki

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

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

The Bloom's Syndrome Helicase Interacts Directly with the Human DNA Mismatch Repair Protein hMSH6.

Published in:

Biological Chemistry, 2003, v. 384, n. 8, p. 1155, doi. 10.1515/BC.2003.128

By:

Pedrazzi, Graziella;
Bachrati, Csanád Z.;
Selak, Nives;
Studer, Ingrid;
Petkovic, Maja;
Hickson, Ian D.;
Jiricny, Josef;
Stagljar, Igor

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

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

Backbone Dynamics and Model‐Free Analysis of the RecQ C‐Terminal Domain of Bloom Syndrome Protein.

Published in:

Bulletin of the Korean Chemical Society, 2018, v. 39, n. 11, p. 1243, doi. 10.1002/bkcs.11579

By:

Yoo, Sooji;
Lee, Sungjin;
Park, Chin‐Ju

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

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1133

By:

Montenegro, Marilia M.;
Quaio, Caio R.;
Palmeira, Patricia;
Gasparini, Yanca;
Rangel‐Santos, Andreia;
Damasceno, Julian;
Novak, Estela M.;
Gimenez, Thamires M.;
Yamamoto, Guilherme L.;
Ronjo, Rachel S.;
Novo‐Filho, Gil M.;
Chehimi, Samar N.;
Zanardo, Evelin A.;
Dias, Alexandre T.;
Nascimento, Amom M.;
Costa, Thais V. M. M.;
Duarte, Alberto J. da S.;
Coutinho, Luiz L.;
Kim, Chong A.;
Kulikowski, Leslie D.

Publication type:

Article

Case Report: Diabetes in Chinese Bloom Syndrome.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.524242

By:

Deng, Mingqun;
Yu, Miao;
Jiajue, Ruizhi;
Feng, Kai;
Xiao, Xinhua

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

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

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

The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 405, doi. 10.1515/jpem-2021-0464

By:

Melikyan, Maria;
Gubaeva, Diliara;
Nikitina, Irina;
Ryzhkova, Daria;
Mitrofanova, Lubov;
Yukhacheva, Daria;
Pershin, Dmitry;
Shcherbina, Anna;
Vasilyev, Evgeniy;
Proshchina, Alexandra;
Krivova, Yuliya;
Tiulpakov, Anatoly

Publication type:

Article

Bloom syndrome for which second chromosomal analysis led to early diagnosis.

Published in:

Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15020

By:

Mai Yoshida;
Yutaro Tomobe;
Seiichi Tomotaki;
Fusako Niwa;
Masahiko Kawai

Publication type:

Article

Bloom Sendromlu Bir Olgu Sunumu.

Published in:

Archives of the Turkish Dermatology & Venerology / Turkderm, 2008, v. 42, n. 3, p. 94

By:

Kaçar, Nida;
Erdoğan, Murat Kadri;
Erdoğan, Berna Şanlı;
Atmaca, Münevver;
Düzcan, Füsun

Publication type:

Article

Complete remission of refractory juvenile acute myeloid leukaemia with RUNX1‐PRDM16 in Bloom syndrome after haematopoietic stem cell transplantation.

Published in:

British Journal of Haematology, 2020, v. 190, n. 3, p. e166, doi. 10.1111/bjh.16789

By:

Nie, Daijing;
Zhang, Jing;
Xiong, Min;
Wang, Fang;
Cao, Panxiang;
Zhang, Yang;
Chen, Xue;
Chen, Jiaqi;
Ma, Xiaoli;
Zhou, Xiaosu;
Wu, Qisheng;
Li, Xvxin;
Liu, Lili;
Liu, Ming;
Tian, Wenjun;
Wu, Ping;
Wang, Tong;
Wang, Hui;
Lu, Peihua;
Liu, Hongxing

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

The Bloom's Syndrome Helicase Is Critical for Development and Function of the ß T-Cell Lineage.

Published in:

Molecular & Cellular Biology, 2007, v. 27, n. 5, p. 33, doi. 10.1128/MCB.01402-06

By:

Babbe, Holger;
Chester, Nicholas;
Leder, Philip;
Reizis, Boris

Publication type:

Article

Telomere Shortening Exposes Functions for the Mouse Werner and Bloom Syndrome Genes.

Published in:

Molecular & Cellular Biology, 2004, v. 24, n. 19, p. 8437, doi. 10.1128/MCB.24.19.8437-8446.2004

By:

Du, Xiaobing;
Shen, Johnny;
Kugan, Nishan;
Furth, Emma E.;
Lombard, David B.;
Cheung, Catherine;
Pak, Sally;
Luo, Guangbin;
Pignolo, Robert J.;
Depinho, Ronald A.;
Guarente, Leonard;
Johnson, F. Brad

Publication type:

Article

Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria.

Published in:

Oxford Medical Case Reports, 2018, v. 2018, n. 12, p. N.PAG, doi. 10.1093/omcr/omy096

By:

Aljarad, Sara;
Alhamid, Ahmad;
Rahmeh, Ahmad Rami;
Alibraheem, Abdelaziz;
Wafa, Abdulsamad;
Alachkar, Walid;
Aljarad, Ziad;
Aziz, Ghasan

Publication type:

Article

The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control.

Published in:

Oncogene, 2001, v. 20, n. 57, p. 8276, doi. 10.1038/sj.onc.1205120

By:

Garkavtsev, Igor V;
Kley, Nikolai;
Grigorian, Irina A;
Gudkov, Andrei V

Publication type:

Article

Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase.

Published in:

BMC Cell Biology, 2003, v. 4, p. 15, doi. 10.1186/1471-2121-4-15

By:

Schawalder, James;
Paric, Enesa;
Neff, Norma F.

Publication type:

Article

The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability.

Published in:

BMC Cell Biology, 2001, v. 2, p. 11, doi. 10.1186/1471-2121-2-11

By:

Yankiwski, Victor;
Noonan, James P.;
Neff, Norma F.

Publication type:

Article

The Bloom's syndrome helicase suppresses crossing over during homologous recombination.

Published in:

Nature, 2003, v. 426, n. 6968, p. 870, doi. 10.1038/nature02253

By:

Wu, Leonard;
Hickson, Ian D.

Publication type:

Article