scholarly journals Oculodentodigital dysplasia

2020 ◽  
Author(s):  
Keyword(s):  
Oculodentodigital Dysplasia

Genetically modified animals as tools to personalize the study of arrhythmia mechanisms and treatment

ESC CardioMed ◽  
2018 ◽  
pp. 3001-3003
Author(s):  
Marina Cerrone ◽  
Morten Schak Nielsen ◽  
Mario Delmar
Keyword(s):  
Ventricular Tachycardia ◽  
Animal Models ◽  
Genetic Engineering ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Polymorphic Ventricular Tachycardia ◽  
Biomedical Sciences ◽  
New Information ◽  
Arrhythmia Mechanisms ◽  
Oculodentodigital Dysplasia ◽  
Genetically Modified Animals

Animal research has been fundamental to the progress of basic and applied biomedical sciences. The combination of genetic engineering with new information on the molecular understanding of diseases has provided a strong framework on which to advance personalized cardiovascular medicine. This chapter uses three inheritable diseases (catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular cardiomyopathy, and oculodentodigital dysplasia) to demonstrate how animal models have served (or have failed to serve) as surrogates of disease and in doing so, have permitted research that can translate back to the patient.

scholarly journals Functional Characterization of Oculodentodigital Dysplasia-Associated Cx43 Mutants

2005 ◽  
Vol 12 (5-6) ◽  
pp. 279-292 ◽  
Author(s):  
Elizabeth McLachlan ◽  
Janet L. Manias ◽  
Xiang-Qun Gong ◽  
Crystal S. Lounsbury ◽  
Qing Shao ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Oculodentodigital Dysplasia

Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene

2015 ◽  
Vol 49 (1) ◽  
pp. 27-30 ◽  
Author(s):  
Gemma Tumminelli ◽  
Ilaria Di Donato ◽  
Valentina Guida ◽  
Alessandra Rufa ◽  
Alessandro De Luca ◽  
...  
Keyword(s):  
New Mutation ◽  
Brain Calcification ◽  
Oculodentodigital Dysplasia

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review

2019 ◽  
Vol 40 (1) ◽  
pp. 54-59 ◽  
Author(s):  
Zhirong Wang ◽  
Limei Sun ◽  
Panfeng Wang ◽  
Chonglin Chen ◽  
Aiyuan Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Ocular Findings ◽  
Oculodentodigital Dysplasia

scholarly journals GJA1mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

2009 ◽  
Vol 30 (5) ◽  
pp. 724-733 ◽  
Author(s):  
William A. Paznekas ◽  
Barbara Karczeski ◽  
Sascha Vermeer ◽  
R. Brian Lowry ◽  
Martin Delatycki ◽  
...  
Keyword(s):  
Connexin 43 ◽  
Oculodentodigital Dysplasia

scholarly journals Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?

1990 ◽  
Vol 27 (3) ◽  
pp. 169-175 ◽  
Author(s):  
L A Brueton ◽  
S M Huson ◽  
B Farren ◽  
R M Winter
Keyword(s):  
Type Iii ◽  
Disease Spectrum ◽  
Oculodentodigital Dysplasia

Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families

2015 ◽  
Vol 24 (4) ◽  
pp. 159-162 ◽  
Author(s):  
Abhilash Dwarakanathan ◽  
Meenakshi Bhat ◽  
Sanjeeva GN ◽  
Swathi Shetty
Keyword(s):  
Deletion Mutations ◽  
Oculodentodigital Dysplasia
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