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

Generation of iPSC lines from a Nijmegen Breakage Syndrome patient.
 

Author(s): Barbara Mlody, James Adjaye

Journal: Stem Cell Res. 2015 Nov;15(3):629-32.

 

Human dermal fibroblasts from a Nijmegen Breakage Syndrome (NBS) patient bearing the 657del5 mutation within the DNA repair gene NIBRIN were used to generate two iPSC-lines (vNBS8-iPS-c1, vNBS8-iPS-c2) by retroviral transduction of OCT4, SOX2, c-MYC and KLF4. Pluripotency was confirmed ...

Last Updated: 18 Mar 2016

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Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
 

Author(s): Jay P Patel, Jennifer M Puck, Rajgopal Srinivasan, Christina Brown, Uma Sunderam, Kunal Kundu, Steven E Brenner, Richard A Gatti, Joseph A Church

Journal: J. Clin. Immunol.. 2015 Feb;35(2):227-33.

 

Severe combined immunodeficiency (SCID) encompasses a group of disorders characterized by reduced or absent T-cell number and function and identified by newborn screening utilizing T-cell receptor excision circles (TRECs). This screening has also identified infants with T lymphopenia ...

Last Updated: 9 Mar 2015

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Nijmegen breakage syndrome fibroblasts expressing the C-terminal truncated NBN(p70) protein undergo p38/MK2-dependent premature senescence.
 

Author(s): Terence Davis, Hannah S E Tivey, Amy J C Brook, David Kipling

Journal: Biogerontology. 2015 Feb;16(1):43-51.

 

Fibroblasts from the progeroid Nijmegen breakage syndrome that express a truncated version of the nibrin protein (NBN(p70)) undergo premature senescence and have an enlarged morphology with high levels of senescence-associated β-galactosidase, although they do not have F-actin stress ...

Last Updated: 24 Jan 2015

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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

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