npb 17 - RTK Mutations and Human Syndromes Leprechaunism...

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Trends Genet. 16:265, 2000 Leprechaunism (Donohue syndrome, autosomal recessive, prognosis is quite dire, with early death usual (most patients die in their first year) except in milder forms of the disease, but few are known to have lived longer. The variation is unsurprising given the diversity of mutations causing the disease) Rabson-Mendenhall syndrome (autosomal recessive, less severe form of leprechaunism, severe insulin resistance, developmental abnormalities, and acanthosis nigricans) Piebaldism: congenital white forelock and multiple symmetrical hypopigmented or depigmented macules. This striking phenotype of depigmented patches of skin and hair has been observed throughout history, with the first descriptions dating to early Egyptian, Greek, and Roman writings. Generation after generation demonstrated a distinctive predictable familial mark—a white forelock. Families have sometimes been known for this mark of distinction, carrying such surnames as Whitlock, Horlick, and Blaylock GIST: grastrointestinal stromal tumor Craniosynostosis syndromes: some or all of the sutures in the skull of an infant or child close too early, causing problems with normal brain and skull growth Lymphedma: localized fluid retention in lymphatic system HPRCC: Hereditary Papillary Renal Cell Carcinoma CIPA: Congenital insensitivity to pain with anhidrosis (body does not sweat) Venous malformation syndrome: malformed dilated veins RTK Mutations and Human Syndromes
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NPB 107 March 3, 2009 1. SH2 domains and activation of PLC- γ 1. Non-receptor tyrosine kinases: Src 1. Ras 1. Drosophila eye development and cancer signaling Alberts et al. Molecular Biology of the Cell 5 th edition Chapter 15: Signaling through enzyme-coupled receptors… pp. 921-935.
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This note was uploaded on 04/03/2010 for the course NPB 105 taught by Professor Fuller during the Spring '10 term at UC Davis.

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npb 17 - RTK Mutations and Human Syndromes Leprechaunism...

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