Electronic Theses and Dissertations Uc San Diego Title: Ciliopathies : Molecular and Genetic Basis for Ahi1 Function in Retinal Degeneration Ciliopathies: Molecular and Genetic Basis for Ahi1 Function in Retinal Degeneration Table of Contents
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چکیده
OF THE DISSERTATION .......................................................................... xii CHAPTER 1: INTRODUCTION ....................................................................................... 1 CHAPTER 2: CHARACTERIZATION OF AHI1 AND GENERATION OF Ahi1 CONDITIONAL KNOCKOUT MOUSE MODEL ............................................................. 24 CHAPTER 3: REQUIREMENT FOR Ahi1 FOR PHOTORECEPTOR DEVELOPMENT AND SURVIVAL ............................................................................................................ 39 CHAPTER 4: ROLE OF MODIFIER EFFECTS ON RETINAL PHENOTYPES IN CILIOPATHIES ............................................................................................................. 56 CHAPTER 5: SUMMARY/DISCUSSION ....................................................................... 73 REFERENCES ............................................................................................................. 79
منابع مشابه
The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival
Purpose Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 10% of all JBTS cases. The purpose of this study was to generate ahi1 mutant alleles in zebrafish a...
متن کاملJoubert syndrome: insights into brain development, cilium biology, and complex disease.
Joubert syndrome (JS) is a primarily autosomal recessive condition characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation (the "molar tooth sign"). Variable features include retinal dystrophy, cystic kidney disease, liver fibrosis and polydactyly. Recently, substantial progress has been made in our understanding of t...
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تاریخ انتشار 2010