Associated Papers
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2018
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
Protein sequences encode safeguards against aggregation.
Reumers J et al.
Human Mutation, 2009
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Huang Y et al.
Human Molecular Genetics, 2008
NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A.
Benayoun B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.
Jia Z et al.
Biophysical Journal, 2001
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Ono Y et al.
The Journal of Biological Chemistry, 1998
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