scholarly journals Editorial: Genetic Mutations Associated With Ocular Diseases

Author(s):  
Minzhong Yu ◽  
Rachida Bouhenni ◽  
Shree K. Kurup ◽  
Wei He
2019 ◽  
Author(s):  
Samantha Anandappa ◽  
Louise Breen ◽  
Ramesh Thurairaja ◽  
Dimitra Christodoulou ◽  
Audrey Jacques ◽  
...  

Author(s):  
Nganga Ngabou Charles Géraud Fredy ◽  
Makita Chantal ◽  
Onka Vissimy ◽  
Messe Ambia Koulimaya Reinette ◽  
Diatewa Benedicte ◽  
...  

Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.


2016 ◽  
Vol 64 (6) ◽  
pp. 29-31
Author(s):  
A. Zborovskaia ◽  
◽  
N. Konovalova ◽  
T. Pyl’kevich ◽  
A. Dorokhova ◽  
...  

2012 ◽  
Vol 14 (3) ◽  
pp. 239-252

In this review, we outline critical molecular processes that have been implicated by discovery of genetic mutations in autism. These mechanisms need to be mapped onto the neurodevelopment step(s) gone awry that may be associated with cause in autism. Molecular mechanisms include: (i) regulation of gene expression; (ii) pre-mRNA splicing; (iii) protein localization, translation, and turnover; (iv) synaptic transmission; (v) cell signaling; (vi) the functions of cytoskeletal and scaffolding proteins; and (vii) the function of neuronal cell adhesion molecules. While the molecular mechanisms appear broad, they may converge on only one of a few steps during neurodevelopment that perturbs the structure, function, and/or plasticity of neuronal circuitry. While there are many genetic mutations involved, novel treatments may need to target only one of few developmental mechanisms.


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