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Cell Biology Diseases
Diseases associated with the Cell
29
Microbiology
Undergraduate 2
12/28/2017

Additional Microbiology Flashcards

 


 

Cards

Term
Alzheimers protein mutation
Definition
Tau protein
Term
Lissencephaly
Definition
Microtubule mutation - a tubulin
Term
Henoch-Schonlein purpura = HSP
Definition
Kinesin 1 defect
Term
PCD = Primary ciliary dyskinesia
Definition
Cilia mutation
Term
Hypertrophic cardiomyopathy
Definition
Actin mutation - heavy chain or in myosin head (R404Q)
Term
Lerber's Optic Neuropathy
Definition
Mitochondria
Term
Kearn Sangers Syndrome
Definition
Mitochondria
Term
Ragged Muscle Fibre Syndrome
Definition
Mitochondria
Term
NM2A Mutation
Definition
Non-muscle Myosin - blood clotting (enlarged platelets)
Term
Myo7a Mutation
Definition
Myosin - deafness (stereo cilia)
Term
Gricselli
Definition
Myo5a mutation - pigmentation defects
Term
Keratin defects
Definition
Blistering caused by defects in cell-cell adhesion
Term
Progeria
Definition
Lamin A mutation
Term
Emery Dreifuss
Definition
Nuclear Lamina
Term
Jansen's Metaphyseal
Definition
GPCR mutation in parathyroid hormone receptor (PTHR)
Term
Grave's Disease
Definition
GPCR causing hyperthyroidism
Term
Hashimotos
Definition
GPCR = antagonistic antibodies
Term
Pertussis toxin
Definition
GPCR - inhibits G(inhibitor)
Term
Mutations in EMT and MET
Definition
Metastasis
Term
Hutchinson Gilford Progeria Syndrome
Definition
LMNA gene - Nuclear envelope
Term
NUP214
Definition
Nuclear associated protein for protein export
Term
Triple A syndrome
Definition
Nuclear pore complex mutation - ALADIN mutation - reduced import
Term
hTREX mutation
Definition
cancer via formation of R loops which halt transcription
Term
Diamond Blackfan anaemia
Definition
Nucleolus - RPS19 - low red blood cell count
Term
Dyskeratosis congenita
Definition
Nucleolus - snoRNP associated protein mutation
Term
Treacher Collins syndrome
Definition
Nucleolus - nucleolar protein TCOF1 mutation
Term
cMyc mutation
Definition
proto oncogoene mutation resulting in Leukaemia
Term
SMN1 mutation
Definition
Nuclear Gems - protein for snRNP biogenesis
Term
Ritinis pigments
Definition
Nuclear Speckles - PRP31 mutation
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