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Achondroplasia: from genotype to phenotype.

This paper reviews how the gene that, when mutated, causes achondroplasia (FGFR3) changes the physical and metabolic characteristics that lead to the disease. It also reviews the treatments available and in development at the time.

[Free Full Text] The activity of FGFR3 with the achondroplasia mutation

This article describes how FGFR3 works with and without the achondroplasia mutation and includes an interview with one of the researchers about a recent publication about how this receptor works with the achondroplasia mutation, Dr. Hristova.

[Free Full Text] A new animal model for research in achondroplasia

This poster describes the development of the first large animal model for achondroplasia, a micropig model. These animal models are important as preclinical tools to first test new drugs in terms of safety and efficacy, even though they're different from humans.

More about autophagy process in achondroplasia pathogenesis

This paper confirms that autophagy is an important process during bone growth. We asked some questions to the author, Prof. Carmine Settembre, which are included in this post.

[Free Full Text] The new link - autophagy in chondrocytes and achondroplasia

Taking a step forward in understanding achondroplasia and it's pathogenic process, this team suggested a link between the activity of FGFR3 and autophagy, impairing this process.
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