Spondylocheiro dysplastic Ehlers-Danlos

Common Name(s)

Spondylocheiro dysplastic Ehlers-Danlos

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylocheiro dysplastic Ehlers-Danlos" 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 "Spondylocheiro dysplastic Ehlers-Danlos" returned 3 free, full-text research articles on human participants. First 3 results:

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.
 

Author(s): Jeeyon Jeong, Joel M Walker, Fudi Wang, J Genevieve Park, Amy E Palmer, Cecilia Giunta, Marianne Rohrbach, Beat Steinmann, David J Eide

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2012 Dec;109(51):E3530-8.

 

Zinc is essential but potentially toxic, so intracellular zinc levels are tightly controlled. A key strategy used by many organisms to buffer cytosolic zinc is to store it within vesicles and organelles.It is yet unknown whether vesicular or organellar sites perform this function ...

Last Updated: 19 Dec 2012

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Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome.
 

Author(s): Bum-Ho Bin, Toshiyuki Fukada, Toshiaki Hosaka, Satoru Yamasaki, Wakana Ohashi, Shintaro Hojyo, Tomohiro Miyai, Keigo Nishida, Shigeyuki Yokoyama, Toshio Hirano

Journal: J. Biol. Chem.. 2011 Nov;286(46):40255-65.

 

The human SLC39A13 gene encodes ZIP13, a member of the LZT (LIV-1 subfamily of ZIP zinc transporters) family. The ZIP13 protein is important for connective tissue development, and its loss of function is causative for the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. However, ...

Last Updated: 14 Nov 2011

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Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
 

Author(s): Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R Janecke, Heather Yeowell, MaryAnn Weis, David R Eyre, Marius Kraenzlin, Beat Steinmann

Journal: Am. J. Hum. Genet.. 2008 Jun;82(6):1290-305.

 

We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and radiological findings of a mild skeletal dysplasia. The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility ...

Last Updated: 3 Jun 2008

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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 "Spondylocheiro dysplastic Ehlers-Danlos" returned 0 free, full-text review articles on human participants.

 
 
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