Nijmegen breakage syndrome

Common Name(s)

Nijmegen breakage syndrome, Ataxia Telangiectasia Variant V1

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nijmegen breakage syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Nijmegen breakage syndrome" returned 49 free, full-text research articles on human participants. First 3 results:

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.
 

Author(s): Barbara Piątosa, Mirjam van der Burg, Katarzyna Siewiera, Małgorzata Pac, Jacques J M van Dongen, Anton W Langerak, Krystyna H Chrzanowska, Ewa Bernatowska

Journal: Cytometry A. 2012 Oct;81(10):835-42.

 

Patients with an immunodeficiency in the course of Nijmegen breakage syndrome (NBS) that is caused by mutations in the NBN/NBS1 gene are prone to recurrent infections and malignancies, due to a defective DNA double-strand breaks repair mechanism. Four-color flow cytometry was used ...

Last Updated: 21 Sep 2012

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Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome.
 

Author(s): S Pasic, L Kandolf-Sekulovic, S Djuricic, L Zolotarevski, R Simic, M Abinun

Journal: J Investig Allergol Clin Immunol. 2012 ;22(2):138-40.

 

Last Updated: 26 Apr 2012

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DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.
 

Author(s): Harald Krenzlin, Ilja Demuth, Bastian Salewsky, Petra Wessendorf, Kathrin Weidele, Alexander Bürkle, Martin Digweed

Journal: PLoS Genet.. 2012 ;8(3):e1002557.

 

Nijmegen Breakage Syndrome (NBS), an autosomal recessive genetic instability syndrome, is caused by hypomorphic mutation of the NBN gene, which codes for the protein nibrin. Nibrin is an integral member of the MRE11/RAD50/NBN (MRN) complex essential for processing DNA double-strand ...

Last Updated: 7 Mar 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nijmegen breakage syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

Nijmegen breakage syndrome (NBS).
 

Author(s): Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed

Journal:

 

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the ...

Last Updated: 29 Mar 2012

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Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.
 

Author(s): Hiroshi Tauchi, Shinya Matsuura, Junya Kobayashi, Shuichi Sakamoto, Kenshi Komatsu

Journal: Oncogene. 2002 Dec;21(58):8967-80.

 

DNA double-strand breaks represent the most potentially serious damage to a genome and hence, at least two pathways of DNA repair have evolved; namely, homologous recombination repair and non-homologous end joining. Defects in both rejoining processes result in genomic instability ...

Last Updated: 16 Dec 2002

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Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1.
 

Author(s): H Tauchi

Journal: J. Radiat. Res.. 2000 Mar;41(1):9-17.

 

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, combined immunodeficiency, and a high incidence of lymphoid tumor. Cells from NBS patients show chromosomal instability, hypersensitivity to ionizing radiation and abnormal p53-mediated ...

Last Updated: 1 Aug 2000

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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