Warsaw breakage syndrome

Common Name(s)

Warsaw breakage syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Warsaw 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 "Warsaw breakage syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.
 

Author(s): Federica Calì, Sanjay Kumar Bharti, Roberta Di Perna, Robert M Brosh, Francesca M Pisani

Journal: Nucleic Acids Res.. 2016 Jan;44(2):705-17.

 

We present evidence that Tim establishes a physical and functional interaction with DDX11, a super-family 2 iron-sulfur cluster DNA helicase genetically linked to the chromosomal instability disorder Warsaw breakage syndrome. Tim stimulates DDX11 unwinding activity on forked DNA substrates ...

Last Updated: 30 Jan 2016

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The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.
 

Author(s): Xinliang Sun, Hongbo Chen, Zaian Deng, Bo Hu, Hui Luo, Xiaobin Zeng, Liqiao Han, Guoping Cai, Lan Ma

Journal: Hum. Mol. Genet.. 2015 Sep;24(17):4901-15.

 

DDX11 was recently identified as a cause of Warsaw breakage syndrome (WABS). However, the functional mechanism of DDX11 and the contribution of clinically described mutations to the pathogenesis of WABS are elusive. Here, we show that DDX11 is a novel nucleolar protein that preferentially ...

Last Updated: 7 Aug 2015

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Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
 

Author(s): José-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A Sommers, Tony Yammine, Eliane Chouery, Lysanne Patry, Guy A Rouleau, Mark E Samuels, Fadi F Hamdan, Jacques L Michaud, Robert M Brosh, André Mégarbane, Zoha Kibar

Journal: Hum. Mutat.. 2013 Jan;34(1):103-7.

 

Mutations in the gene encoding the iron-sulfur-containing DNA helicase DDX11 (ChlR1) were recently identified as a cause of a new recessive cohesinopathy, Warsaw breakage syndrome (WABS), in a single patient with severe microcephaly, pre- and postnatal growth retardation, and abnormal ...

Last Updated: 2 Jan 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 "Warsaw breakage syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.
 

Author(s): Sanjay Kumar Bharti, Irfan Khan, Taraswi Banerjee, Joshua A Sommers, Yuliang Wu, Robert M Brosh

Journal: Cell. Mol. Life Sci.. 2014 Jul;71(14):2625-39.

 

In 2010, a new recessive cohesinopathy disorder, designated Warsaw breakage syndrome (WABS), was described. The individual with WABS displayed microcephaly, pre- and postnatal growth retardation, and abnormal skin pigmentation. Cytogenetic analysis revealed mitomycin C (MMC)-induced ...

Last Updated: 17 Jun 2014

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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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