Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
| a to t transversion, use mst 2 restriction endonuclease |
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Term
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Definition
| ada gene retrovirus into bone marrow cells |
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Term
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Definition
| no gamma c gene = no functional t, b, or nk cells; randomly inserted retrovirus bone marrow ex vivo randomly inserted, kids died |
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Term
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Definition
| enzyme gp phox missing, retrovirus inserted orderly, activated genes |
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Term
| ex vivo gene therapy (2?) |
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Definition
| adenovirus fixed amd (eye) w human pigment epithelium derived factor |
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Term
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Definition
| tissue specific promoter glial fibrillaty acidic protein promotor introduce tyrosine hydroxylase into astrocytes |
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Term
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Definition
| 9*2 + 2, cilia, flagella, pillar cells cochlea, primary cilium |
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Term
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Definition
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Term
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Definition
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Term
| drug binding sites tubuli |
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Definition
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Term
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Definition
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Term
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Definition
| colchicines binds + end of tubulin targets WBCs, stops motility |
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Term
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Definition
| amyloid senile plaques, hyperphosphorylated tau paired helices too negative to stabilize MTs |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| moverment of cilia and flagella |
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Term
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Definition
| male infertility, bronchiole infections, situs inversus in 50% |
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Term
| hereditary spastic paraplegia |
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Definition
| no atpase on kinesin kif5a |
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Term
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Definition
| no GPCRs in intraflagellar raft = developmental problems |
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Term
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Definition
| low hydrin – low cilia – low h2o out of brain |
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Term
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Definition
| collagen alpha 1 or alpha 2 GLY->ALA, no bone mineralization |
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Term
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Definition
| prob with collagen or a processing protein |
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Term
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Definition
| fibrillin mutation, long limbs |
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Term
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Definition
| deficiency in NAGlucosamine transferase for glycoproteins – no mannose-6-P, no protein to lysosome = inclusion bodies |
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Term
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Definition
| alpha and beta mannosidases, fucosidasis, sialidosis, aspartylglucosaminuria. |
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Term
| congenital muscular dystrophy |
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Definition
| protein-O-mannose transferase 1 or 2, transfer mannose to SER or THR on dystroglycan, dystroglycan binds laminin or percalin outside cell, inside cell binds dystrophin, actin. |
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Term
| glucosamine and chondroitin sulfate |
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Definition
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Term
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Definition
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Term
| defective gag degredation |
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Definition
| hurler, hunter, sanfilippo, morquio, maroteaux-Lamy, Sly |
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Term
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Definition
| beta2 integrin mutation, prevents binding to alpha integrin, no exit capillaries, |
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Term
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Definition
| mycobacterium, binds laminin2 in nervous system and integrin on Schwann cells, which lose myelin |
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Term
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Definition
| China, poor selenium, cardiac failure, subject to oxidative damage (h2o2) |
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Term
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Definition
| h202 increase trans of matrix metalloproteinases which degrade collagen – metastasis |
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Term
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Definition
| eye problems in hyperbaric o2 chamber babies |
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Term
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Definition
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Term
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Definition
| accumulation of lipid perozidation by ROS |
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