Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.
Li Y et al.
Medicine, 2025
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
Genetic Variants in SPINK1 , PRSS1, or CFTR Are Not Associated With The Development of Post-ERCP Pancreatitis.
de Jong MJP et al.
Pancreas, 2025
Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant.
Budhwar V et al.
Scientific Reports, 2024
A De Novo CaSR Missense Variant in Combination with Two Inherited Missense Variants in CFTR and SPINK1 Detected in a Patient with Chronic Pancreatitis.
Bontempo P et al.
Biomedicines, 2024
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
Inhibition of mouse trypsin isoforms by SPINK1 and effect of human pancreatitis-associated mutations.
Morales Granda NC et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
Chen JM et al.
Genes, 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
The impact of physiological stress conditions on protein structure and trypsin inhibition of serine protease inhibitor Kazal type 1 (SPINK1) and its N34S variant.
Buchholz I et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2020
Genetic polymorphisms and pancreatic cancer risk: A PRISMA-compliant systematic review and meta-analysis.
Dai P et al.
Medicine, 2019
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
Pancreatitis-Associated Genes and Pancreatic Cancer Risk: A Systematic Review and Meta-analysis.
Cazacu IM et al.
Pancreas, 2018
An immunocapture-LC-MS-based assay for serum SPINK1 allows simultaneous quantification and detection of SPINK1 variants.
Ravela S et al.
Analytical and Bioanalytical Chemistry, 2018
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
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
Frequency of Tabagism and N34S and P55S Mutations of Serine Peptidase Inhibitor, Kazal Type 1 (SPINK1) and R254W Mutation of Chymotrypsin C (CTRC) in Patients With Chronic Pancreatitis and Controls.
da Costa MZ et al.
Pancreas, 2016
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Sofia VM et al.
Molecular Medicine (cambridge, Mass.), 2016
Hereditary pancreatitis: current perspectives.
Raphael KL et al.
Clinical and Experimental Gastroenterology, 2016
Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D et al.
Bmc Gastroenterology, 2015
Germline mutations in MAP3K6 are associated with familial gastric cancer.
Gaston D et al.
Plos Genetics, 2014
Frequency of SPINK1 N34S mutation in acute and recurrent acute pancreatitis.
Rai P et al.
Journal of Hepato-biliary-pancreatic Sciences, 2014
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
LaRusch J et al.
Plos Genetics, 2014
TATI as a biomarker.
Itkonen O et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
Martinez B et al.
Journal of Human Genetics, 2014
Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report.
Terlizzi V et al.
Minerva Pediatrica, 2013
Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.
Paliwal S et al.
Gut, 2013
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J et al.
Gut, 2013
Molecular dynamics simulations reveal structural instability of human trypsin inhibitor upon D50E and Y54H mutations.
Mokmak W et al.
Journal of Molecular Modeling, 2013
Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.
Hamoir C et al.
Digestion, 2013
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.
Masson E et al.
Plos One, 2013
Genetics and pathogenesis of chronic pancreatitis: the 2012 update.
Chen JM et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?
Jøergensen MT et al.
European Journal of Gastroenterology & Hepatology, 2012
Functional analysis of eight missense mutations in the SPINK1 gene.
Boulling A et al.
Pancreas, 2012
The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis.
Cichoż-Lach H et al.
Polskie Archiwum Medycyny Wewnetrznej, 2012
Recent human evolution has shaped geographical differences in susceptibility to disease.
Marigorta UM et al.
Bmc Genomics, 2011
Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.
Schneider A et al.
Gastroenterology, 2011
[Effect of pancreatic secretory trypsin gene mutations on the development of chronic pancreatitis].
Kucheriavyĭ IuA et al.
Eksperimental'naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology, 2011
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark.
Joergensen MT et al.
The American Journal of Gastroenterology, 2010
Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.
Derikx MH et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Incidence, etiology and prognosis of first-time acute pancreatitis in young patients: a population-based cohort study.
Joergensen M et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2010
Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis.
Garg PK et al.
Journal of Clinical Gastroenterology, 2009
Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis.
Sundaresan S et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2009