| scholarly article | Q13442814 |
| P50 | author | Heiko Witt | Q90796906 |
| Giriraj R Chandak | Q61093977 | ||
| David N. Cooper | Q30503192 | ||
| P2093 | author name string | Sumit Paliwal | |
| Jian-Min Chen | |||
| D Nageshwar Reddy | |||
| Claude Férec | |||
| Arnaud Boulling | |||
| Seema Bhaskar | |||
| Emmanuelle Masson | |||
| P2860 | cites work | Hereditary pancreatitis caused by triplication of the trypsinogen locus | Q79314164 |
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| Identification of novel pancreas-specific regulatory sequences in the promoter region of human pancreatic secretory trypsin inhibitor gene | Q40988637 | ||
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| Human cell line (COLO 357) of metastatic pancreatic adenocarcinoma | Q42800640 | ||
| [-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site | Q42844578 | ||
| Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis | Q43074804 | ||
| CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients | Q44606666 | ||
| Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis | Q44727697 | ||
| The true culprit within the SPINK1 p.N34S-containing haplotype is still at large. | Q51759308 | ||
| Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. | Q51796788 | ||
| Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. | Q54593532 | ||
| Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis | Q57263763 | ||
| Gene promoter analysis in molecular diagnostics: do or don’t? | Q63865974 | ||
| Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients | Q78575271 | ||
| Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis | Q79144290 | ||
| Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene | Q24311652 | ||
| PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L. | Q24535567 | ||
| Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis | Q24645261 | ||
| Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis | Q24681604 | ||
| SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis | Q28138406 | ||
| Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis | Q28145585 | ||
| Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene | Q28299358 | ||
| Identification of a cell-specific DNA-binding activity that interacts with a transcriptional activator of genes expressed in the acinar pancreas | Q28583023 | ||
| Genetic analysis of the glycoprotein 2 gene in patients with chronic pancreatitis | Q34106571 | ||
| Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis | Q34732835 | ||
| The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion | Q35013336 | ||
| Mutational analysis of the gene encoding the zymogen granule membrane glycoprotein 2 (GP2) in patients with chronic pancreatitis | Q35015906 | ||
| A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance. | Q35760356 | ||
| Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. | Q37181595 | ||
| Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis | Q37395316 | ||
| Chronic pancreatitis: genetics and pathogenesis | Q37488219 | ||
| Expression of the L-type pyruvate kinase gene and the hepatocyte nuclear factor 4 transcription factor in exocrine and endocrine pancreas | Q38309952 | ||
| Two HNF-1 binding sites govern the glucose repression of the human sucrase-isomaltase promoter. | Q38331531 | ||
| P275 | copyright license | Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported | Q15643954 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 10 | |
| P304 | page(s) | 1066-1073 | |
| P577 | publication date | 2011-05-25 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Assessing the pathological relevance of SPINK1 promoter variants | |
| P478 | volume | 19 |
| Q51632031 | Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis. |
| Q26801332 | Framework for interpretation of trypsin-antitrypsin imbalance and genetic heterogeneity in pancreatitis |
| Q40314070 | Functional significance of SPINK1 promoter variants in chronic pancreatitis. |
| Q33843764 | Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway |
| Q34667122 | Genetic and phenotypic heterogeneity in tropical calcific pancreatitis |
| Q38757404 | Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype |
| Q64239617 | Toward a clinical diagnostic pipeline for SPINK1 intronic variants |
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