Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis
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Witt, 2007, Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy, Gastroenterology, 132, 1557, 10.1053/j.gastro.2007.03.001
Kleeff, 2017, Chronic pancreatitis, Nat Rev Dis Primers, 3, 17060, 10.1038/nrdp.2017.60
Saluja, 2019, Early intra-acinar events in pathogenesis of pancreatitis, Gastroenterology, 156, 1979, 10.1053/j.gastro.2019.01.268
Whitcomb, 1996, Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene, Nat Genet, 14, 141, 10.1038/ng1096-141
Sharer, 1998, Mutations of the cystic fibrosis gene in patients with chronic pancreatitis, N Engl J Med, 339, 645, 10.1056/NEJM199809033391001
Cohn, 1998, Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis, N Engl J Med, 339, 653, 10.1056/NEJM199809033391002
Witt, 2000, Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis, Nat Genet, 25, 213, 10.1038/76088
Rosendahl, 2008, Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis, Nat Genet, 40, 78, 10.1038/ng.2007.44
Witt, 2013, Variants in CPA1 are strongly associated with early onset chronic pancreatitis, Nat Genet, 45, 1216, 10.1038/ng.2730
Fjeld, 2015, A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis, Nat Genet, 47, 518, 10.1038/ng.3249
Lasher, 2019, Protease-sensitive pancreatic lipase variants are associated with early onset chronic pancreatitis, Am J Gastroenterol, 114, 974, 10.14309/ajg.0000000000000051
Whitcomb, 2013, Genetic risk factors for pancreatic disorders, Gastroenterology, 144, 1292, 10.1053/j.gastro.2013.01.069
Masamune, 2014, Genetics of pancreatitis: the 2014 update, Tohoku J Exp Med, 232, 69, 10.1620/tjem.232.69
Gerasimenko, 2014, The role of Ca2+ in the pathophysiology of pancreatitis, J Physiol, 592, 269, 10.1113/jphysiol.2013.261784
Gerasimenko, 2018, Ca2+ signalling underlying pancreatitis, Cell Calcium, 70, 95, 10.1016/j.ceca.2017.05.010
Krüger, 2000, The role of intracellular calcium signaling in premature protease activation and the onset of pancreatitis, Am J Pathol, 157, 43, 10.1016/S0002-9440(10)64515-4
Peng, 1999, Molecular cloning and characterization of a channel-like transporter mediating intestinal calcium absorption, J Biol Chem, 274, 22739, 10.1074/jbc.274.32.22739
Fecher-Trost, 2017, TRPV6: from identification to function, Cell Calcium, 67, 116, 10.1016/j.ceca.2017.04.006
Stoerger, 2014, The transient receptor potential cation channel subfamily V member 6 (TRPV6): genetics, biochemical properties, and functions of exceptional calcium channel proteins, Biochem Cell Biol, 92, 441, 10.1139/bcb-2014-0063
Bianco, 2007, Marked disturbance of calcium homeostasis in mice with targeted disruption of the Trpv6 calcium channel gene, J Bone Miner Res, 22, 274, 10.1359/jbmr.061110
Woudenberg-Vrenken, 2012, Functional TRPV6 channels are crucial for transepithelial Ca2+ absorption, Am J Physiol Gastrointest Liver Physiol, 303, G879, 10.1152/ajpgi.00089.2012
2013, The Genotype-Tissue Expression (GTEx) project, Nat Genet, 45, 580, 10.1038/ng.2653
Wissenbach, 2001, Expression of CaT-like, a novel calcium-selective channel, correlates with the malignancy of prostate cancer, J Biol Chem, 276, 19461, 10.1074/jbc.M009895200
Segerstolpe, 2016, Single-cell transcriptome profiling of human pancreatic islets in health and type 2 diabetes, Cell Metab, 24, 593, 10.1016/j.cmet.2016.08.020
Nagasaki, 2015, Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals, Nat Commun, 6, 8018, 10.1038/ncomms9018
Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324
Wang, 2010, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Res, 38, e164, 10.1093/nar/gkq603
Abecasis, 2012, An integrated map of genetic variation from 1,092 human genomes, Nature, 491, 56, 10.1038/nature11632
Higasa, 2016, Human genetic variation database, a reference database of genetic variations in the Japanese population, J Hum Genet, 61, 547, 10.1038/jhg.2016.12
Robinson, 2011, Integrative genomics viewer, Nat Biotechnol, 29, 24, 10.1038/nbt.1754
Nakano, 2015, Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis, Dig Dis Sci, 60, 1297, 10.1007/s10620-014-3476-9
Masson, 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, PLoS One, 8, 10.1371/journal.pone.0073522
Rosendahl, 2013, CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?, Gut, 62, 582, 10.1136/gutjnl-2011-300645
Sudo, 2010, Derived (mutated)–types of TRPV6 channels elicit greater Ca2+ influx into the cells than ancestral-types of TRPV6: evidence from Xenopus oocytes and mammalian cell expression system, J Pharmacol Sci, 114, 281, 10.1254/jphs.10169FP
Weissgerber, 2011, Male fertility depends on Ca2+ absorption by TRPV6 in epididymal epithelia, Sci Signal, 4, ra27, 10.1126/scisignal.2001791
Jensen, 2005, Recapitulation of elements of embryonic development in adult mouse pancreatic regeneration, Gastroenterology, 128, 728, 10.1053/j.gastro.2004.12.008
Junqueira, 1979, Picrosirius staining plus polarization microscopy, a specific method for collagen detection in tissue sections, Histochem J, 11, 447, 10.1007/BF01002772
Puchtler, 1973, Polarization microscopic studies of connective tissue stained with picro-sirius red FBA, Beitr Path, 150, 174, 10.1016/S0005-8165(73)80016-2
McGoldrick, 2018, Opening of the human epithelial calcium channel TRPV6, Nature, 553, 233, 10.1038/nature25182
Kinjo, 2017, Protein Data Bank Japan (PDBj): updated user interfaces, resource description framework, analysis tools for large structures, Nucleic Acids Res, 45, D282, 10.1093/nar/gkw962
Voets, 2001, CaT1 and the calcium release-activated calcium channel manifest distinct pore properties, J Biol Chem, 276, 47767, 10.1074/jbc.C100607200
Fecher-Trost, 2013, The in vivo TRPV6 protein starts at a non-AUG triplet, decoded as methionine, upstream of canonical initiation at AUG, J Biol Chem, 288, 16629, 10.1074/jbc.M113.469726
Akey, 2006, TRPV6 exhibits unusual patterns of polymorphism and divergence in worldwide populations, Hum Mol Genet, 15, 2106, 10.1093/hmg/ddl134
Suzuki, 2008, Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation, Hum Mol Genet, 17, 1613, 10.1093/hmg/ddn048
Zou, 2016, No association between CEL–HYB hybrid allele and chronic pancreatitis in Asian populations, Gastroenterology, 150, 1558, 10.1053/j.gastro.2016.02.071
Hirnet, 2003, The TRPV6 gene, cDNA and protein, Cell Calcium, 33, 509, 10.1016/S0143-4160(03)00066-6
Park, 2009, Altered biochemical properties of transient receptor potential vanilloid 6 calcium channel by peptide tags, Biol Pharm Bull, 32, 1790, 10.1248/bpb.32.1790
Voets, 2003, Mg2+-dependent gating and strong inward rectification of the cation channel TRPV6, J Gen Physiol, 121, 245, 10.1085/jgp.20028752
Zou, 2018, SPINK1, PRSS1, CTRC, and CFTR genotypes influence disease onset and clinical outcomes in chronic pancreatitis, Clin Transl Gastroenterol, 9, 204, 10.1038/s41424-018-0069-5
Chiari, 1896, Über die Selbstverdauung des menschlichen Pankreas, Z Heilk, 17, 69
Whitcomb, 2012, Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis, Nat Genet, 44, 1349, 10.1038/ng.2466
Aune, 2019, Tobacco smoking and the risk of pancreatitis: a systematic review and meta-analysis of prospective studies, Pancreatology, 19, 1009, 10.1016/j.pan.2019.09.004
Weissgerber, 2012, Excision of Trpv6 gene leads to severe defects in epididymal Ca2+ absorption and male fertility much like single D541A pore mutation, J Biol Chem, 287, 17930, 10.1074/jbc.M111.328286
Zhuang, 2002, Calcium-selective ion channel, CaT1, is apically localized in gastrointestinal tract epithelia and is aberrantly expressed in human malignancies, Lab Invest, 82, 1755, 10.1097/01.LAB.0000043910.41414.E7
Peng, 2003, Epithelial Ca2+ entry channels: transcellular Ca2+ transport and beyond, J Physiol, 551, 729, 10.1113/jphysiol.2003.043349
Petersen, 2009, Fatty acids, alcohol and fatty acid ethyl esters: toxic Ca2+ signal generation and pancreatitis, Cell Calcium, 45, 634, 10.1016/j.ceca.2009.02.005
Suzuki, 2018, TRPV6 variants interfere with maternal-fetal calcium transport through the placenta and cause transient neonatal hyperparathyroidism, Am J Hum Genet, 102, 1104, 10.1016/j.ajhg.2018.04.006
Burren, 2018, TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton, Am J Med Genet A, 176, 1950, 10.1002/ajmg.a.40484
Mooren, 2001, Calcium-magnesium interactions in pancreatic acinar cells, FASEB J, 15, 659, 10.1096/fj.00-0172com