Riddle syndrome

Common Name(s)

Riddle syndrome

Description for this condition is not yet available.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.
 

Author(s): Grant S Stewart, Stephanie Panier, Kelly Townsend, Abdallah K Al-Hakim, Nadine K Kolas, Edward S Miller, Shinichiro Nakada, Jarkko Ylanko, Signe Olivarius, Megan Mendez, Ceri Oldreive, Jan Wildenhain, Andrea Tagliaferro, Laurence Pelletier, Nadine Taubenheim, Anne Durandy, Philip J Byrd, Tatjana Stankovic, A Malcolm R Taylor, Daniel Durocher

Journal: Cell. 2009 Feb;136(3):420-34.

 

The biological response to DNA double-strand breaks acts to preserve genome integrity. Individuals bearing inactivating mutations in components of this response exhibit clinical symptoms that include cellular radiosensitivity, immunodeficiency, and cancer predisposition. The archetype ...

Last Updated: 10 Feb 2009

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RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.
 

Author(s): Grant S Stewart, Tatjana Stankovic, Philip J Byrd, Thomas Wechsler, Edward S Miller, Aarn Huissoon, Mark T Drayson, Stephen C West, Stephen J Elledge, A Malcolm R Taylor

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2007 Oct;104(43):16910-5.

 

Cellular DNA double-strand break-repair pathways have evolved to protect the integrity of the genome from a continual barrage of potentially detrimental insults. Inherited mutations in genes that control this process result in an inability to properly repair DNA damage, ultimately ...

Last Updated: 25 Oct 2007

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The mystery of the Doctor's son, or the riddle of West syndrome.
 

Author(s): Paul Eling, Willy O Renier, Joern Pomper, Tallie Z Baram

Journal: Neurology. 2002 Mar;58(6):953-5.

 

Although the eponym "West syndrome" is used widely for infantile spasms, the originators of the term and the time frame of its initial use are not well known. This article provides historical details about Dr. West, about his son who had infantile spasms, and about the circumstances ...

Last Updated: 26 Mar 2002

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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 "Riddle syndrome" returned 0 free, full-text review articles on human participants.

 
 
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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.