Associated Papers
Genetics of liver disease in adults.
Konkwo C et al.
Hepatology Communications, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 2023
The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals.
Dunlea DM et al.
Journal of Inflammation Research, 2018
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.
Tomaiuolo R et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
Update on gene modifiers in cystic fibrosis.
Collaco JM et al.
Current Opinion in Pulmonary Medicine, 2008
[Exocrin pancreatic deficiency revealing an alpha-1-antitrypsin deficiency].
Deest G et al.
Gastroenterologie Clinique Et Biologique, 2008
Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database.
Zlotogora J et al.
Human Mutation, 2007
Relevance of variants in serum antiproteinases for the course of chronic pancreatitis.
Teich N et al.
Scandinavian Journal of Gastroenterology, 2002
The endoplasmic reticulum degradation pathway for mutant secretory proteins alpha1-antitrypsin Z and S is distinct from that for an unassembled membrane protein.
Teckman JH et al.
The Journal of Biological Chemistry, 1996
[Genotype-phenotype correlation in a sample of Mexican patients with cystic fibrosis].
Yokoyama E et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0