Chronic pancreatitis: an international draft consensus proposal for a new mechanistic definition, Pancreatology, vol.16, pp.218-242, 2016. ,
Chronic pancreatitis: genetics and pathogenesis, Annu Rev Genomics Hum Genet, vol.10, pp.63-87, 2009. ,
Genetic aspects of pancreatitis, Annu Rev Med, vol.61, pp.413-437, 2010. ,
Genetic risk in chronic pancreatitis: the trypsindependent pathway, Dig Dis Sci, vol.62, pp.1692-701, 2017. ,
Chronic pancreatitis, Nat Rev Dis Primers, vol.3, p.17060, 2017. ,
Genetic risk factors in chronic pancreatitis, p.31, 2018. ,
Assessing the pathological relevance of SPINK1 promoter variants, Eur J Hum Genet, vol.19, pp.1066-73, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00644722
Functional significance of SPINK1 promoter variants in chronic pancreatitis, Am J Physiol Gastrointest Liver Physiol, vol.308, pp.779-84, 2015. ,
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype, Hum Mutat, vol.38, pp.1014-1038, 2017. ,
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene, Eur J Hum Genet, vol.15, pp.936-978, 2007. ,
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation, Gut, vol.56, pp.1433-1441, 2007. ,
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis, Gut, vol.65, pp.884-890, 2016. ,
Digging deeper into the intronic sequences of the SPINK1 gene, Gut, vol.65, pp.1055-1061, 2016. ,
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort, Nucleic Acids Res, vol.46, pp.7913-7936, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01910334
Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations? Front Genet, vol.9, p.366, 2018. ,
In silico prioritization and further functional characterization of SPINK1 intronic variants, Hum Genomics, vol.11, p.7, 2017. ,
Context-dependent control of alternative splicing by RNAbinding proteins, Nat Rev Genet, vol.15, pp.689-701, 2014. ,
A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa, Hum Genomics, vol.12, p.35, 2018. ,
Genophenotypic analysis of pediatric patients with acute recurrent and chronic pancreatitis, Pancreas, vol.45, pp.1347-52, 2016. ,
PRSS1, SPINK1, CFTR, and CTRC pathogenic variants in Korean patients with idiopathic pancreatitis, Ann Lab Med, vol.36, pp.555-60, 2016. ,
Pancreatic cancer cell lines heterozygous for the SPINK1 p.N34S haplotype exhibit diminished expression of the variant allele, Pancreas, vol.46, pp.54-59, 2017. ,
SPINK1, PRSS1, CTRC and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis, Clin Transl Gastroenterol, vol.9, p.204, 2018. ,
Functional intronic polymorphisms: buried treasure awaiting discovery within our genes, Hum Genomics, vol.4, pp.284-292, 2010. ,
, The Genotype-Tissue Expression (GTEx) Dataset, 2019.
First estimation of the scale of canonical 5? splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications, bioRxiv, vol.479493, 2018. ,
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease, Genome Res, vol.28, pp.100-110, 2018. ,
215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site, Gut, vol.55, p.1214, 2006. ,
Functional assays are essential for interpretation of missense variants associated with variable expressivity, The Genome Aggregation Database (gnomAD), vol.102, pp.1062-77, 2018. ,
Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes, Hum Mutat, vol.30, pp.1435-1483, 2009. ,
Patterns and mutational signatures of tandem base substitutions causing human inherited disease, Hum Mutat, vol.34, pp.1119-1149, 2013. ,
HGVS recommendations for the description of sequence variants: 2016 update, Hum Mutat, vol.37, pp.564-573, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-02438000
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis, Nat Genet, vol.47, pp.518-540, 2015. ,
No association between CEL-HYB hybrid allele and chronic pancreatitis in Asian populations, Gastroenterology, vol.150, pp.1558-60, 2016. ,
URL : https://hal.archives-ouvertes.fr/inserm-01293422
Variants in CPA1 are strongly associated with early onset chronic pancreatitis, Nat Genet, vol.45, pp.1216-1236, 2013. ,
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort, Hum Mutat, vol.38, pp.959-63, 2017. ,
,
, Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis, Gut, vol.67, pp.1855-63, 2018.
The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation, Gut, vol.67, pp.1368-1377, 2018. ,
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis, Nat Genet, vol.25, pp.213-219, 2000. ,
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene, Nat Genet, vol.14, pp.141-146, 1996. ,
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis, Nat Genet, vol.40, pp.78-82, 2008. ,
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis, Hum Genet, vol.123, pp.83-91, 2008. ,
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis, N Engl J Med, vol.339, pp.653-661, 1998. ,
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis, N Engl J Med, vol.339, pp.645-52, 1998. ,
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients, PLoS One, vol.8, p.73522, 2013. ,
URL : https://hal.archives-ouvertes.fr/hal-01314873
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation, Genome Med, vol.9, p.13, 2017. ,
RNA mis-splicing in disease, Nat Rev Genet, vol.17, pp.19-32, 2016. ,
A comprehensive characterization of cis-acting splicing-associated variants in human cancer, Genome Res, vol.28, pp.1111-1136, 2018. ,
Whole USH2A gene sequencing identifies several new deep intronic mutations, Hum Mutat, vol.37, pp.184-93, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01885918
Functional characterization and rescue of a deep intronic mutation in OCRL gene responsible for Lowe syndrome, Hum Mutat, vol.38, pp.152-161, 2017. ,
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene, J Cyst Fibros, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02400710
Correction of a cystic fibrosis splicing mutation by antisense oligonucleotides, Hum Mutat, vol.37, pp.209-224, 2016. ,
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene, Hum Mutat, vol.38, pp.1660-1665, 2017. ,
URL : https://hal.archives-ouvertes.fr/inserm-02862494
Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA, Biochem Biophys Res Commun, vol.132, pp.605-617, 1985. ,
Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene, Biochem Biophys Res Commun, vol.149, pp.635-676, 1987. ,
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis, Gut, vol.58, pp.545-554, 2009. ,
, , 2018.
Is the SPINK1 p.Asn34Ser missense mutation per se the true culprit within its associated haplotype?, WebmedCentral GENETICS, vol.3, p.3084, 2012. ,