Neurotrophic factors 9 Introduction 9 NGF family 10 Neurotrophins 10 Neurotrophin receptors 11 Neurotrophins and their receptors in development and disease 12 GDNF family of neurotrophic factors 13 GDNF gene 14 GDNF in the nervous system 14 GDNF in the kidney 15 GDNF in other organs 15 Transgenic GDNF mice 15 Ret receptor tyrosine kinase 16 Ret in development 17 Ret signal transduction 17 Ret in human diseases 17 GDNF family receptor alphas 18 Development of the enteric nervous system 19 GDNF signaling pathway in the developing gut 20 Neurotrophic factors and their receptors in human diseases 21 Hirschsprung's disease 21 Clinical picture 21 Genetics of Hirschsprung's disease 21 GDNF signaling in Hirschsprung's disease 22 Endothelin signaling and other genes in Hirschsprung's disease 22 Parkinson's disease 23 GDNF in Parkinson's disease 24 Meckel syndrome 24 5 Strategies for the identification of disease genes 26 Candidate genes 26 Mutation identification 26 Mutation-disease correlation 27 AIMS 28 MATERIALS AND METHODS 28 Cloning of human GDNF 28 Cloning of human and rat GFRa-2 cDNA 28 Probes 28 Fluorescent in situ hybridization 28 Northern analysis 29 Growth factors and antibodies 29 Receptor tyrosine phosphorylation assay 29 Sample tissues 29 p75NTR immunohistochemistry 29 In situ hybridization 29 RT-PCR 29 Cell and organ cultures 29 SSCP analysis 29 Mutation search by sequencing 29 Minisequencing 30 Radiation hybrid mapping 30 CFLP analysis 30 RESULTS AND DISCUSSION 30 Ret mediates GDNF signal in mesoderm induction of Xenopus blastula animal caps 30 Cloning and characterization of the GFRa-2 gene 30 Expression and function of GFRa-2 31 Distribution of GDNF and its receptors in the developing human gut 32 GDNF is required for ureteric budding in kidney development 33 p75NTR in Meckel syndrome 34 GDNF mutation analysis in Hirschsprung's disease and renal agenesis 35 GDNF mutation analysis in Parkinson's disease 35 CONCLUDING REMARKS 36 ACKNOWLEDGEMENTS 37

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@inproceedings{Wartiovaara1999GDNFAP, title={GDNF AND p75 NEUROTROPHIN RECEPTOR IN DEVELOPMENT AND DISEASE}, author={Kirmo Wartiovaara and Hannu Sariola and Juhani Rapola and Heikki Rauvala and Lauri A. Aaltonen and Stanislas Lyonnet and MUSAE FENNIAE}, year={1999} }