Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.
Wang YC et al.
American Journal of Human Genetics, 2025
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Wu H et al.
Human Genomics, 2024
Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay.
Gaiani N et al.
Scientific Reports, 2023
The roles of mutated SPINK1 gene in prostate cancer cells.
Pan X et al.
Mutagenesis, 2022
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
Lin JH et al.
Frontiers in Genetics, 2021
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB et al.
Clinical and Translational Gastroenterology, 2018
In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing.
Wu H et al.
Gut, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.
Wu H et al.
Genes, 2017
Exonic variants affecting pre-mRNA splicing add to genetic burden in chronic pancreatitis.
Beer S et al.
Gut, 2014
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.
Kume K et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2005
Serine protease inhibitor Kazal type 1 mutations and pancreatitis.
Schneider A
Gastroenterology Clinics of North America, 2004
Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.
McConnell RS et al.
Journal of Medical Genetics, 2001
Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis.
Szabó A et al.
The Journal of Biological Chemistry, 0