Oculodentodigital dysplasia dominant

Common Name(s)

Oculodentodigital dysplasia dominant

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculodentodigital dysplasia dominant" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculodentodigital dysplasia dominant" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Oculodentodigital dysplasia dominant" returned 3 free, full-text research articles on human participants. First 3 results:

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
 

Author(s): Lynn M Boyden, Brittany G Craiglow, Jing Zhou, Ronghua Hu, Erin C Loring, Kimberly D Morel, Christine T Lauren, Richard P Lifton, Kaya Bilguvar, Amy S Paller, Keith A Choate

Journal: J. Invest. Dermatol.. 2015 Jun;135(6):1540-1547.

 

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches ...

Last Updated: 31 Dec 1969

Go To URL
Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.
 

Author(s): Xiang-Qun Gong, Qing Shao, St├ęphanie Langlois, Donglin Bai, Dale W Laird

Journal: J. Biol. Chem.. 2007 Jun;282(26):19190-202.

 

Oculodentodigital dysplasia (ODDD) is a congenital autosomal dominant disorder with phenotypic variability, which has been associated with mutations in the GJA1 gene encoding connexin43 (Cx43). Given that Cx43 mutants are thought to be equally co-expressed with wild-type Cx43 in ODDD ...

Last Updated: 31 Dec 1969

Go To URL
Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.
 

Author(s): Wendi Roscoe, Gregory I L Veitch, Xiang-Qun Gong, Emily Pellegrino, Donglin Bai, Elizabeth McLachlan, Qing Shao, Gerald M Kidder, Dale W Laird

Journal: J. Biol. Chem.. 2005 Mar;280(12):11458-66.

 

Oculodentodigital dysplasia, a rare condition displaying congenital craniofacial deformities and limb abnormalities, has been associated with over 20 known human connexin43 (Cx43) mutations. The localization of two of these mutants, G21R and G138R, was examined in Cx43-positive normal ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Oculodentodigital dysplasia dominant" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.