o PAX4 – beta cell of pancreas o Topoisomerase II o PEX – peroxisome RNA polymerase Zellwegner syndrome o Fidaxomicin Imprinting disease o Rifaximin o Angleman and Prader Willi o Rifampicin o Pseudohypoparathyroidism o Rifabutin o Pseudopseudohypoparathyroid o Actinomycin D dism o Amatoxin – death cap o Hydatidiform mole – p57 – QT prolongation complete mole present o All ABCDE o Wiedelmann o Arsenic Rice water stool AV block and myocarditis o Cholera o RF o Amanita toxin – death cap o Lyme disease o Arsenic toxicity Central vision gone Scavenger receptor o Macular degeneration o Receptor A – in mAcrophage – o Lever Optic neuropathy for LDL Cribiform plate o B1 – in liver – for HDL o Mucor Anosmia o Aspergillu o Refsum disease o Nagleria o Zinc deficiency Yeast like o Kallman syndrome o Tinea versicolor Argenine becomes essential in o PCP o Growth period – for histone Non-homolgous recombination o Urea cycle disorder o CRISP/Cas9 SCID o Ionizing radiation damage o Copper deficiency – Menke repair o Vitamin E o VDJ recombination o Vitamin B12 Birth deafness o SCID like – Friedrich ataxia and o CMV Tabes doraslis o Syphillis Night blindess o Rubella o Refsum disease Consensus sequence o Vitamin A deficiency o Start of DNA replication – Origin Antimycin vs. Actinomycin D of replication – AT rich o Antimycin A – Complex III of sequence ETC o Transcription – Promoter region o Actinomycin – RNA polymerase – AT rich Actinomycin D o Translation – Kozak sequence o Sacral ganglia – S234 (HSV2) around AUG o Sacral parasympathetics – S Dextran 2/3/4 o S. sanguis production o 2/3 – SLE attaches to platelets in SBE o S3/4 Anal win reflex o Volume expansion LCAT vs. ACAT Vitamin C = hydroxylation o LCAT – Blood o Dopamine hydroxylation for NE o ACAT – Liver cells production Microtubule o Proline and Lysine o Drugs – MGCVP hydroxylation o Cheidak Heigshi o Neutral Bile acid pathway – 7-α- o Dyenin arm hydroxylase (fibrate) Kartagener syndrome Maltese cross Toxin - Tetanospasmin o Nephrotic syndrome fatty cast Virus – Rabies o Babesia o Kinesin Fibroblast produce Reactivation o Collage o Stabilization of microtubule o Erythropoietin Tau protein – Alzheimer Bile acid – 70% of liver cholesterol used Paclitaxel to make bile acid 60s adenine out o Neutral pathway – ER - 7-α- o Ricin toxin hydroxylase – produces both o Shiga toxin cholic and chenodeoxycholic o Shiga like toxin o Acidic pathway – Mitochondria Monday disease and Peroxisome – only o Nitroglycerine chenodexoycholic o Bysinosis – Monday morning Binds to – in Complex IV and blues hemoglobin Stenosis o CN – Fe3+ o Aorta o CO - Fe2+ Coarctation – Turner Thumb sign Suprvalvular aortic o Marfan syndrome stenosis – William o Epiglottitis o Renal artery Tree like rash Fibrous dysplasia o Erythema infectiosum William syndrome o Pityriasis rosacea GTP relation 2/3/4 o G protein – Gs/Gi – including o Femoral nerve – L234 Ras o Obturator nerve – L234 o alpha and beta tubulin o Pudendal nerve – L234 o initiation factor o eF 2 o Lesh Nyah o eF1 o Anti-psychotic o Succinyl CoA to Succinate o Parkinsonism o PEPCK – OAA to pyruvate XD Desmo o Retts o Desmosine – Elastin o Alport o Desmosome – Pemphigus o Vitamin D deficiency vulgaris hypophosphetemic rickets Councilman bodies o Pyruvate dehydrogenase o Viral hepatitis – zone I deficiency o Yellow fever – zone II XR in biochemistry Proteins that are active when o OTC deficiency dephosphorylated o Fabry o Insulin related all protein – o HGPRT Glycogen synthase o Hunter o Retinoblastoma o Menke o Phospholablam o Adrenocorticoleucodystrophy o NFAT – by cyclophilin Mutase o Tau protein o MethymalonylCoA mutase – o Myosin light chain KINASE vitamin B 12 o Merlin – prevent growth and o Biphosphoglycerate mutase – differentiation 2,3 BPG Centro o 3 phosphoglycerate to 2 o Centromere – chromosome phosphoglycerate part where sister chromatids Hearing loss in MSK join o OI o Centrosome – where o Paget microtubuels join in center of Gonad gone in biochemistry cell o Zinc deficiency o Centriole – present inside o Myotonic dystrophy centrosome Parkinsonism Phopholipase C o Proteosome o Clostridium perfingens o Parkin o Pseudomonas o PINK o IPD/DAG pathway o DJ-1 Co-dominance PRPP amidotransferase inhibited by o HLA o AMP o Blood group o GMP o alpha1-antitrypsin o IMP Dystonia o Azathioprine o West nile virus Cytoplasmic Ig o Immature – precursor B cell o Lung – calcification o Mature – plasma cell o Bone – RA Thiamine Adenine o Transketolase o Removed from 40s by Shiga o All TLCFN enzyme o Nucleotide where methylation Budding yeast occurs o Crypto o Pentamidine binds and causes o Blasto cross linking (also o Paracooidoides topoisomerase II) o Sporothrix Topoisomerase II Granuloma - caseating o Etoposide/Teniposide o Tuberculosis o Actinomycin D o All systemic fungi o Pentamidine o Francisella o Fluoroquinlone o Bartonella NMDA related o ?Lymphogranuloma venerum (it o Memantine is necrotizing) o Dextromethorphan o Listeria - infantisepticum o Ketamine Granuloma – noncaseating o PCP o Autoimmune orchitis Stratum corneum limited disease o DeQuervian o Scabies o Crohns o Dermatophytes o Sarcoidosis o ?tinea versicolor o Berryliosis Chronotrophy vs dromotrophy o o Chrono- SA node Depolarizing agent o Dromo- AV node o Open Na channel Proofreaders in genome Permethrin o DNA polymerase III Ciguatoxin o Aminoacyl-t-RNA synthase – D o NM blocker arm of t-RNA Succinyl choline Foot process present in PAM o Podocyte Protease o Astrocyte o Aspartate protease – HIV o Both make barriers o Caspace – Cysteine aspartate Absent in breast mil protease – apoptosis o Vitamin K o PrPsc – resistant to protease o Vitamin D Alpha helix to beta pleated sheet From feces o Amyloidosis o Cat – Toxoplasma o Prion – PrPc to PrPsc o Dog- Echinococcus Silica Unpasteurized milk o Campylobacter o Serine – HbF has serine in o Brucella gamma chain in place of Asplenia histidine and lysine o S>>>Hi>>N o Threonine – forms propionyl o Babesia CoA o Salmonella 5 is all A Shellfish o IgA = IL 5 o Vibrio vulnifuncus o B5 if gone Adrenal insufficiency o HAV Macrovesicular steatosis NF differential o Alcohol o Gas gangrene o HCV - periportal o Vibrio vulnifuncus infection o NAFLD o GAS infection Primer FGF o DNA primer – for PCR o Achondroplasia – FGFR23 o RNA primer – for DNA o Hypophosphetemic rickets polymerase III o Limb growth – goes proximally dsRNA o Metanephros o Virus – Rotavirus o Angiogenesis o RNA interfence o Kallman syndrome miRNA Ambigiuos word in steps siRNA o Nucleus – IX,X,XI Pure RBC aplasia o Unambigious – Genetic code o Good syndrome feature o Parvovirus o Genitalia Day wise after birth B2 deficiency – All red o D 16 – Lyonization o Red eye o D24 – Anterior neuropore o Red tongue – Magneta tongue fusion o Red lips – Chelosis o D 28 – posterior neuropore Glutamine fusion o NH4 donor in kidney for H+ o 5th week – Hemisphere removal separation o Blood NH3 carrier main Arachidonic acid metabolism inhibitor o Purine ring formation o Diethylcarbamazine o Pyrimide ring formation – CPS II o Aspirin Serine threonine o NSAID o O linked glycosylation – post- H2O2 inactivating enzyme translation modification in golgi o Glutathione peroxidase o target of protein kinase A and C o Catalase Galactosidase ≠ Galactocerebrosidase o Galactocerebrosidase – Krabbe o beta-galactosidase – Fabry o P53 ER enzymes of importance o beta-catenin o Glucose 6 phosphatase Asparagine ≠ Arginine o HMG-CoA reducatse o Asparagine – N glycosylation TCA vs beta-oxidation o Arginine o TCA – 3 NADH and 1 FADH NO o Beta oxidation – 1 NADH and 1 Urea FADH 2’ vs 3’ in ribose ATGC o no OH in 2’ – deoxyribose o A and C – methylation o no OH in 3’ – NRTI o Cytosine PAS positive CpG methylation – o Glycogen colon cancer o Mucopolysaccharide Lyonization o Alpha 1 antitrypsin Suppression of o Whipple disease transcription o Hypokalemic periodic paralysis o Cytosine ≠ Cysteine syndrome Folate Lyase enzyme o Methylene – Thymydylate o HMG CoA lyase – makes synthase Acetoacetate from HMG CoA o Formyl – Purine and pyrimidine o ATP Citrate Lyase – makes o Methyl Acetyl CoA from citrate storage form Café-au-lait only enzyme that uses o Bloom methyl THF is o Mcune Albirght syndrome methionine synthase o NF 1 o Flat curve SRP vs snRNP Lactate curve – Mcardle o SRP – polymyositis – Signal disease reconization particle Ammonia curve – o snRNP – SLE anti Smith MADD Juxta receptors Acetyl CoA o glomerular – kindey o TCA cycle o capillary – lung o Pyruvate carboxylase obligate Fc portion IgG activator – from fatty acid beta o CD16 of NK binds to oxidation – power for o FcERI of mast cell gluconeogenesis o Protein A of Staph o Ketone body o Complement activation site o TG production – Malonyl CoA o IgM of RA binds o Cholesterol via – HMG CoA GABA drugs Should be undetectable in cell o Ivermectin o Diazepam Useful in reduced state o Phenobarb o Vitamin K o Alcohol o Glutathione o Valporate 2:1 CN o LH:FSH > 2:1 in PCOS o Sodium nitroprusside o Lecithin: Sphingomyelin Fetal o Cysteinuria lung maturitys DHFR Crystal inside o Proguanil o Rienke crystal - Leydig o Metho o Auer rod – M3 o Pyrimethamine o HbC – Crystal of hemoglobin C o Trimehtoprim High riding Hydrophobic amino acid important in o Prostate – Membranous o Transmembrane domain of cell urethra gone membrane receptor o Testes o N-terminal signal of peptides Vitamin A K+ site binding drugs o Periductal mastitis o Digoxin o Cornea o Loop diuretic o Pancreas o Thiazide Grey white junction of brain SIDS o Multiple punctuate hemorrhage o MCAD deficiency = DAI o Smoking o Well circumscribed mass = Mets Actin in microbiology and immunology Vestibular nucleus o Polymerization – Shigella, o Antigravity muscle Listeria o Extensor o Depolymerization – B. toxin, C. Uncle herniation difficle o PCA o Wiskotch Aldrich o Occulomotor H-K ATPase o Cerebral peduncle o Parietal cell Atypical CD4 o Collecting duct apical surface o Sezary Postinfectious things o IM o Encephalomyelitis o Other many condition o Glomerulonephritis Elastin vs collagen what is thrown from Prepro vs. proper cell o Pre-pro – collagen o Pro alpha collagen triple helix – o Pro – pre – B Cell from cell to outside Phagolysosome fusion inhibitor (tropocollagen formed outside) o Cheidak Higashi o Tropoelastin o Sulfatide in M. tuberculosis Father age related o Autism Enzyme o Achondroplasia o Synthase – Anti-Jo - Father paternal meiotic nondysjunction Polymyositis o Klienfelter syndrome o Helicase – Mi2 – Polymyositis o Turner syndrome o RNA polymerase III – Diffuse NK cell scleroderma o CD 16 – Fc region o Topoisomerase – Diffuse o CD 56 – NCAM – Small cell scleroderma Cancer Tryptase vs. Trypsinogen Arsenic vs. asbestos o Tryptase – marker of mast cell o Arsenic degranulation Glycolysis – 0 ATP o Trypsinogen – marker of CF in Binds Zinc motif – BER child screening and NER Sphingomyelin Binds to cysteine o Neiman Pick Lipoic acid inhibited o Surfactant Cigarette smoke, Shuttle herbicide o Malate o Asbestos o Glycerol-3-P shunt Destroys chromosome o Citrate – fatty acid synthesis Warfarin enzyme enchancement APS vs. APLS o Vitamin E o APS – AIRE o Enzyme inhibitor – RAG o APLS – Fas-FasL defect Ribonucleoprotein PDGF o SSA o Myelofibrosis Sjogren o Atheroscelrosis – smooth Neonatal heart block muscle movement o SSB MDR 1 vs. MDR 2 Sjogren o MDR 1 – P glycoprotein o U1 - MCTD o MDER 2 – Dubin Johnson o snRNP – Anti smith RBC formation o SRP – Dermatomyositis o Iron – Duodenum DNA polymerase – all 3 have 3’ o Folate – Jejunum exonuclease o B12 – Ileum o I – has 5’ exonuclease Macrophage o II o Lung – Proteinosis o III – Main one o Bone – Osteoporosis o Telomerase – RNA dependent Activating mutation DNA polymerase o Achondroplasia o Reverse transcriptase o Struge Weber o Tdt – nothing dependent o Liddle syndrome Myoglobinuria o 11: 14 to 11:18 o McArdle 11:14 – Mantle cell o Carnitine deficiency carcinoma – cyclin D Myoclonic 11:18 – marginal cell o Infancy cancer Tay Sachs o VAT o Early childhood Validity accuracy Huntington Angiosarcoma , Arsenic, o Childhood and adolescent Thorostat MERRF (Myoclonic o Tingible body macrophage epilepsy ragged red Burkitt fiber) Leukemoid reaction Gaucher o Scoliosis o Old NF1 Crutzfel Jacob Homocystinuria Liver and Renal failure Marfanoid habitus o Bone fracture with minor Friedrich ataxia trauma o Lytic bone lesion in skull Job syndrome HSD disease – Osteoporosis Langerhan cell Osteogenesis imperfect histiocytosis o Parotid enlargement ATCL Sjogren Multiple myeloma Mumps o Sial Lewis X o Immunodeficiency – XR Rolling SCID – IL2R H influenza virus Bruton Ca 19-9 in Sial Lewis X Hyper IgM o Ferro Wisthok Aldrich Chelatase – Fe2+ CGD protoprophyrin IPEX heme o Café au lait Oxidase – Fe3+ Fe2+ NF in blood Mcune Albright o 24 hour urine black Bloom Alkaptonuria Fanconi AIP (acute intermittent o 50000 porphyria) < 50000 – Cysteinuria with sodium Thrombocytopenia that nitroprusside is symptomatic o Me > 50000 – Leukemoid Menin – MEN 1 reaction Merlin – NF 2 o ds DNA Tamoxifen Homologous Clomiphene ATM Vimentin FA Sarcoma BRCA1/BRCA2 Endometrial Non-homologous RCC ATM Meningioma Artemis o Dandy-Walker plus Chiari II o Lipase Meningomyelocele LPL – VLDL and Hydrocephalus chylomicron o Bimodal cancer HSL – adipocyte Hodgkin Pancreatic lipase Osteoblastoma Hepatic TG lipase – o Zinc vs. Copper makes LDL from IDL Collagenase – matrix esterase mettaloprotease zinc Lysosomal esterase Lysyl oxidase copper o Phospholipase o Stabilization of microtubule Phospholipase A1 Tau Phospholipase A2 – Paclitaxel corticosteroid o NMDA related - Glutamate PLC Memantine PLD Dextromethorphan o Coronary vasodilator Ketamine Cliostazole PCP CCB o ATP gated Fenoldopam Cl- - Cystic fibrosis o Large platelet K+ - Sulfonylurea Essential o X linked in biochemistry thrombocytopenia XR Bernard soulier Menke Cheidak Higashi HGPRT o Negative to positive Fabry Kinesin Hunter Electrophoresis OTC deficiency o DCC Adrenoleucody Necritin + Apoptosis strophy Necritin - Pro- XD apoptosis PDH o SERM o CD 34 vs. CD 43 Raloxifen CD 34 Hematopoietic RNA interference stem cell micro RNA AML siRNA Kaposi sarcoma o Angleman and Wiedelman Dermatofibrosa Both man are rcoma paternally imprinted Endothelium o Foot process CD 43 – Wiskott Aldrich Astrocyte o Uro Podocyte Uroporphyrinogen – o BCR vs. BCl-2 Rash in skin BCR = 22 Urobilin – Urine BCL-2 = 18 o Cytochrome o CCl4 vs. Ethylene glycol b – Fe3+ Fe2+ on Liver – CCl4 duodenal cell Kidney toxin – Ethylene c – ETC glycol o 1,2 o Claw hand 120 – RBC life Median claw 1-2% - Retics Ulnar claw o Basophil in ribosomal RNA Klumpe claw Retics I cell disease Basophilic stippling o Intimal fibrosis Nissil Temporal arteritis o Startle problem Primary pulmonary MEERF hypertension Myoclonic epilepsy Chronic allograph o Selectin nephropathy P selectin – Histamine o Acidic pH induced Pepsinogen E selectin – IL 1 and TNF Acid hydrolase alpha induced o Transcytosis L selectin – in IgA lymphocyte Transferrin o Problem with exercise Insulin McArdle o E2 E3 and E4 Pomple E4 – increases risk of MCAD deficiency Alzheimer MEERF E2 – Type III Coarctation of arota dyslipidemia o dsRNA o Lysosomal enzyme out of cell Virus – Reo virus I cell disease – Silicosis – fibrosis o Cilia o Collagenase Tubulin (Microtubule) – Wound remodeling 2 GTP Osteoclast – bone Dynein – ATPase remodeling o Inflammation o Mosaicism Upregulated Struge Weber – GNAQ Hepcidin Mcune Albright – GNAS Ferritin o Neural crest Downregulated Struge Albright Transferrin Treacher Collin o Caplan o Lewy body Pneumoconiosis Parkinsonism Silicosis Lewy body dementia o Nitroprusside o WT vs. WNT CN poisoining WNT BP down beta catenin Cysteinuria Dorsal ventral o Aggressive in biochemistry axis Hunter WT HGPRT Wilm tumor o Night blindness WT1 – Danesy Refsum Drash Retinitis pigmentosa WT2 – Vitamin A deficiency Beckwith o Clouded cornea Widedlman I cell disease o Splice site disease Hurler Werdnig Hoffman o Short fingers Beta thalassemia 4th toe – Refsum IKAP – Familial Fanconi – Thumb/radial dysautnomia defect o iv sit ooze Pseudohypoparathyroid DIC ism – 4th digit Acute hemolytic blood Triphalengeal thumb – transfusion Diamond backfan o Caseating granuloma o Ginival hyperplasia Francisella Drugs - phenytoin Fungal infection I cell Bartonella AML M5 – Monocytic Tuberculosis Scurvy o Non caseating Cyclosporin Crohns disease Berrylium William – 7 o Collagen deposition Patau – 13 Liver – Ito cells Edward – 18 Fibroblast Down – 21 Scleroderma Klinerfelter – 47 XXY ILD Turner – 45 XO o Fer o H-K ATPase LactoFERin – Neutrophil Parietal cell secreted Early DCT FERritin – Macrophage, Intercalated cells liver o E. Coli o Growth factor in microbiology Classic galactosemia Heparin biding Vitamin E deficiency epidermal growth o Black factor Lung – Coal worker Diphtheria Liver – Rotor syndrome ILGF-1 o Point mutation HBx activates Immunology – Fab o Tumor marker region somatic Calcitonin – Medullary hypermutation carcinoma Virology – Antigenic Calcitriol – Lymphoma drift influenza o Anti elastase o Lamin and laminin ATT deficiency Laminin – Basement TIMP membrane o Trophy Lamina/Lamin – Chromotrophy – SA Nucleus intermediate node filament Dromotrophy – AV o SOD node Mitochondria o Neutrophil defect Phagolysosome Job syndrome ALS Familial meditterian o Myxoid fever Chondromyxoid o NFKB activation pleomorphic adenoma Canonical – IKB kinase Vocal cord nodule Alternative – NIK REC Schwannoma o Internuclear ophthalmoplegia = Fibroadenoma ipsilateral ophthalmoplegia Marfan o Chromosome o Gel electrophoresis Criduchat – 5 Size – DNA RNA Protein Charge – ALP Fibroadenoma isoenzyme Leimyoma o Proteosomal dysfunction Breast Ca Parkinsonism Endometrial Ca Liddle – Nedd o Lack of E cadherin o Stretch Diffuse type of gastric Cardio – Dilates ca Renal afferent – LCIS in breast constricts o Left hand and 5 fingers are used o Decrease complement to C2 and C4 – C1 esterase FAP deficiency PDE 5 inhibitor C3 and C4 – SLE o Reductase inhibitor o Recurrent otitis media HMG CoA reductase Immuno deficiency 5 alpha reductase Langerhan cell o GAAIT histiocytosis GAAIT = EIGHT = eight o PT prolongation but thrombosis week movement starts XII GAAit = GAA in APLA Friedriech ataxia o Danger meditterianean food o 70 % Apricot seed – CN CAD poisoining if lost pituitary Fava bean – G6PD adenoma is lost – deficiency pituitary o Vitamin for treatment hypopitutarism Methhemoglobinemia – o Glucosidase Vitamin C Alpha glucosidase – CN poisoining – Acarbose, Meglitol Cyanocobalamine Alpha 1,4 glucosidase – o Phosphatidylcholine Pompe disease Dipalmitoylcholine – o Metformin is biguanide lecithin o Endocrinology and depression Lysophosphatidylcholin Hypercalcemia e – CRP Hypothyroidism o Vitamin A deficiency Glucagunoma Periductal mastitis Pancreatic squamous metaplasia Xerophthalmia o Estrogen dependent tumor Meningioma
Gianna Pomata (Editor), Nancy G. Siraisi (Editor) - Historia - Empiricism and Erudition in Early Modern Europe (Transformations - Studies in The History of Science and Technology) (2006)