Noonan syndrome 3

Common Name(s)

Noonan syndrome 3

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes.  It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Noonan syndrome 3" 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 "Noonan syndrome 3" returned 1 free, full-text research articles on human participants. First 3 results:

Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling.
 

Author(s): Manuela Molzan, Benjamin Schumacher, Corinna Ottmann, Angela Baljuls, Lisa Polzien, Michael Weyand, Philipp Thiel, Rolf Rose, Micheline Rose, Philipp Kuhenne, Markus Kaiser, Ulf R Rapp, J├╝rgen Kuhlmann, Christian Ottmann

Journal: Mol. Cell. Biol.. 2010 Oct;30(19):4698-711.

 

The Ras-RAF-mitogen-activated protein kinase (Ras-RAF-MAPK) pathway is overactive in many cancers and in some developmental disorders. In one of those disorders, namely, Noonan syndrome, nine activating C-RAF mutations cluster around Ser(259), a regulatory site for inhibition by 14-3-3 ...

Last Updated: 10 Sep 2010

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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 "Noonan syndrome 3" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 9 Dec 2013

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Examining the Immune Response in Patients With Gaucher Disease and Hepatitis B or C
 

Status: Recruiting

Condition Summary: Gaucher Disease; Hepatitis B; Hepatitis C

 

Last Updated: 10 Jan 2011

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