Notes in V. Galactosemia to Cystic Fibrosis

To Subscribe, use this Key

Status	Last Update	Fields
Published	12/09/2024	Autosomal recessive disorder of galactose metabolism resulting from accumulation of {{c1::galactose-1-phosphate}} in tissues
Published	12/09/2024	What are the two variants of galactosemia?
Published	12/09/2024	What is the common variant of Galactosemia?
Published	12/09/2024	What is the most common lethal genetic disease that affects Caucasianpopulations?
Published	12/09/2024	Cystic Fibrosis (Mucoviscidosis):Inherited disorder of {{c1::ion transport}} that affects fluid secretion in the ff:{{c2::Exocrine glands}}{{c3::Epith…
Published	12/09/2024	What are the common symptoms of Cystic fibrosis?
Published	12/09/2024	Give the criteria for Diagnosis of Cystic Fibrosis
Published	12/09/2024	Cystic Fibrosis (Mucoviscidosis):Primary defect: Abnormal transport of {{c1::chloride}} and {{c2::bicarbonate}} ions mediated by an anion channel enco…
Published	12/09/2024	Give the Six Classes of CFTR Mutations
Published	12/09/2024	Six Classes of CFTR Mutations:Class 1-3 mutationsResult in {{c1::< 10%}} residual CFTR activity“Severe mutations”Class 4-6 mutationsResult in {{c2:…
Published	12/09/2024	Identification: This type of mutation is also called “null mutation”
Published	12/09/2024	Identification: This type of mutation is associated with near complete lack of CFTR protein
Published	12/09/2024	Identification: This type of mutation is the most common and most severe
Published	12/09/2024	Identification: This type of mutation involves abnormal protein folding, processing, and trafficking
Published	12/09/2024	Identification: This type of mutation involves defective regulation or the Gating mutations
Published	12/09/2024	Identification: This type of mutation has a normal amount of CFTR on the apical surface but is nonfunctional
Published	12/09/2024	Identification: This type of mutation is associated with decreased conductance or conduction mutation
Published	12/09/2024	Identification: This type of mutation is associated with reduced abundance or production mutations
Published	12/09/2024	Identification: This type of mutation is associated with decrease membrane CFTR stability or instability mutations
Published	12/09/2024	Identification: These mutations give rise to fully processed and functional proteins but with greatly reduced membrane stability
Status	Last Update	Fields