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 57 free, full-text research articles on human participants. First 3 results:

Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.
 

Author(s): Bianca Schröder-Heurich, Natalia Bogdanova, Britta Wieland, Xiaoxi Xie, Monika Noskowicz, Tjoung-Won Park-Simon, Peter Hillemanns, Hans Christiansen, Thilo Dörk

Journal:

 

Mutations in NBN, the gene for Nijmegen Breakage Syndrome (NBS), are thought to predispose women to developing breast cancer, but a breast cancer cell line containing mutations in NBN has not yet been described. The p.R215W missense mutation occurs at sub-polymorphic frequencies in ...

Last Updated: 9 Jul 2014

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Celiac-like sprue in Nijmegen breakage syndrome: successful treatment with budesonide.
 

Author(s): S Pasic, G Ristic, S Djuricic, D Prokic, S Zdravkovic

Journal: J Investig Allergol Clin Immunol. 2014 ;24(2):128-9.

 

Last Updated: 19 May 2014

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Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.
 

Author(s): Yan Wang, Yu Hong, Man Li, Jiang Long, Yan-Ping Zhao, Jun-Xia Zhang, Qian Li, Hong You, Wei-Min Tong, Ji-Dong Jia, Jian Huang

Journal:

 

Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutation is a human autosomal recessive disease characterized by genomic instability and enhanced cancer predisposition. The NBS1 gene codes for a protein, Nbs1(p95/Nibrin), involved in the processing/repair of DNA double-strand ...

Last Updated: 18 Dec 2013

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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 7 free, full-text review articles on human participants. First 3 results:

Nijmegen breakage syndrome and chronic polyarthritis.
 

Author(s): Srdjan Pasic, Maja Cupic, Tanja Jovanovic, Slobodanka Djukic, Maja Kavaric, Ivana Lazarevic

Journal:

 

We report on pediatric patient with Nijmegen breakage syndrome (NBS), a rare DNA repair disorder characterized by microcephaly, immunodeficiency and predisposition to malignant lymphomas, who developed juvenile idiopathic arthritis (JIA)-like polyarthritis. In patients with primary ...

Last Updated: 15 Nov 2013

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.