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Single-Nucleotide Polymorphisms On The Ryd5 Gene In Nasal Polyposis
(Mary Ann Liebert, Inc, 2015)
Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic ...
Human Tubb3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, And Axon Guidance
(Cell Press, 2010)
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation ...
Decreased Catalytic Activity And Altered Activation Properties Of Pde6C Mutants Associated With Autosomal Recessive Achromatopsia
(Oxford Univ Press, 2011)
Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase (PDE6C) have been recently reported in patients with autosomal recessive inherited achromatopsia (ACHM) and early-onset cone ...