Associated Papers
Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.
Parisi SR et al.
European Journal of Cell Biology, 2026
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation.
Dimori M et al.
Frontiers in Genetics, 2023
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b.
Morgan NE et al.
International Journal of Molecular Sciences, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Identifying pathogenicity of human variants via paralog-based yeast complementation.
Yang F et al.
Plos Genetics, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Salian S et al.
American Journal of Medical Genetics. Part A, 2017
A novel RAB33B mutation in Smith-McCort dysplasia.
Dupuis N et al.
Human Mutation, 2013
Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.
Alshammari MJ et al.
Journal of Medical Genetics, 2012
Select a paper to view details