| Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases. | Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases.
Stefanovics R, Sándor M, Demcsák A, Berke G, Németh BC, Zhang W, Abu-El-Haija M, Sahin-Tóth M., | 07/31/2024 |
| Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis. | Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.
Berke G, Beer S, Gede N, Takáts A, Szentesi A, Hegyi P, Rosendahl J, Sahin-Tóth M, Németh BC, Hegyi E., Free PMC Article | 11/10/2023 |
| Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis. | Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.
Takáts A, Berke G, Gede N, Németh BC, Witt H, Głuszek S, Rygiel AM, Hegyi P, Sahin-Tóth M, Hegyi E., Free PMC Article | 05/28/2022 |
| Clinical interpretation of SPINK1 and CTRC variants in pancreatitis. | Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Girodon E, Rebours V, Chen JM, Pagin A, Levy P, Ferec C, Bienvenu T. | 09/18/2021 |
| Chronic pancreatitis with polycystic kidney disease: A rare coincidence? | Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Hrčková G, Hegyi E, Skalická K, Čierna I, Dallos T, Ilenčíková D. | 06/12/2021 |
| Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis. | Association between genetic variants in CYP2E1 and CTRC genes and susceptibility to alcoholic pancreatitis: A systematic review and meta-analysis.
Usategui-Martín R, Carbonell C, Novo-Veleiro I, Hernández-Pinchete S, Mirón-Canelo JA, Chamorro AJ, Marcos M. | 03/27/2021 |
| Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation. | Inactivation of mesotrypsin by chymotrypsin C prevents trypsin inhibitor degradation.
Toldi V, Szabó A, Sahin-Tóth M., Free PMC Article | 12/12/2020 |
| No relationship between the c.738_761del and p.Arg254Trp mutations and the development of alcoholic chronic pancreatitis was found | Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.
Cichoż-Lach H, Michalak-Wojnowska M, Lis-Janczarek E, Wojcierowski J, Hydzik M. | 10/26/2019 |
| CTRC variants, including p.Gly60Gly (c.180C>T) variant are significant chronic pancreatitis risk factors in pediatric patients. Screening for CTRC variants should be always considered in routine molecular diagnostics in early onset chronic pancreatitis. | Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.
Grabarczyk AM, Oracz G, Wertheim-Tysarowska K, Kujko AA, Wejnarska K, Kolodziejczyk E, Bal J, Koziel D, Kowalik A, Gluszek S, Rygiel AM. | 05/19/2018 |
| Our preliminary results show that the CTRC polymorphism p.G60= (c.180C>T) is frequent in patients with pancreatic cancer. However, further research is needed to verify our findings. | CTRC gene polymorphism may increase pancreatic cancer risk - preliminary study.
Głuszek S, Kowalik A, Kozieł D, Wawrzycka I, Głuszek-Osuch M, Matykiewicz J. | 12/9/2017 |
| Gene mutations were present in PRSS1 in 26 patients with acute recurrent and chronic pancreatitis, SPINK1 in 23, CTRC in 3, and CPA1 in 5. In the 31 patients with mutations in SPINK1, CTRC, or CPA1, 16 (51.6%) had homozygous or heterozygous mutations with other mutations. | Genetic Analysis of Japanese Children With Acute Recurrent and Chronic Pancreatitis.
Saito N, Suzuki M, Sakurai Y, Nakano S, Naritaka N, Minowa K, Sai JK, Shimizu T. | 11/26/2017 |
| Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. | Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ, Lowe ME, Werlin SL, Zimmerman B, Wilschanski M, Troendle D, Schwarzenberg SJ, Pohl JF, Palermo J, Ooi CY, Morinville VD, Lin TK, Husain SZ, Himes R, Heyman MB, Gonska T, Gariepy CE, Freedman SD, Fishman DS, Bellin MD, Barth B, Abu-El-Haija M, Uc A., Free PMC Article | 09/9/2017 |
| CTRC polymorphism increases the risk of an acute pancreatitis occurrence and together with the SPINK 1 mutation, may be responsible for a more severe course of the disease. | CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.
Koziel D, Gluszek S, Kowalik A, Chlopek M., Free PMC Article | 02/18/2017 |
| One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. | PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis.
Cho SM, Shin S, Lee KA., Free PMC Article | 02/18/2017 |
| Human anionic trypsinogen is controlled by CTRC in a manner that individual natural mutations are unlikely to increase stability enough to promote intra-pancreatic activation. | Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.
Jancsó Z, Sahin-Tóth M., Free PMC Article | 11/19/2016 |
| Letter: CTRC intron mutations associated with acute or chronic pancreatitis. | Report of 2 CTRC Intronic Mutations Associated With Acute or Chronic Pancreatitis and Delineation of Their Pathogenic Molecular Mechanisms.
Masson E, Chen JM, Férec C. | 04/16/2016 |
| In Israel, pediatric as well as adult recurrent acute pancreatitis and chronic pancreatitis are often associated with cationic trypsinogen, serine protease inhibitor Kazal type 1, CTRC, or Cystic Fibrosis Transmembrane Conductance Regulator mutations. | Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M. | 02/27/2016 |
| Mutations in SPINK 1, CFTR and CTRC were detected in 6.3%, 2.3% and 1.8% of patients with acute pancreatitis versus 3.2%, 3.8% and 1.2% of controls. No relationship was found between the detected mutations and severity of pancreatitis. | Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.
Koziel D, Gluszek S, Kowalik A, Chlopek M, Pieciak L., Free PMC Article | 02/6/2016 |
| Loss-of-function mutations in CTRC increase the risk for chronic pancreatitis. Describe functional analysis of eight previously uncharacterized natural CTRC variants tested for potential defects in secretion, proteolytic stability, and catalytic activity. | Mesotrypsin Signature Mutation in a Chymotrypsin C (CTRC) Variant Associated with Chronic Pancreatitis.
Szabó A, Ludwig M, Hegyi E, Szépeová R, Witt H, Sahin-Tóth M., Free PMC Article | 10/3/2015 |
| Expression of endoplasmic reticulum stress associated CTRC mutants reduces the levels of acetylated tubulin by increasing both the levels and phosphorylation of the deacetylase SIRT2. | ER stress-associated CTRC mutants decrease stimulated pancreatic zymogen secretion through SIRT2-mediated microtubule dysregulation.
Binker MG, Richards D, Gaisano HY, Cosen-Binker LI. | 09/12/2015 |
| None of the selected 121 pancreatic cancer samples showed a pancreatitis-predisposing mutation in the CTRC gene. | CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients.
Schubert S, Traub F, Brakensiek K, von Kopylow K, Marohn B, Maelzer M, Gaedcke J, Kreipe H, Stuhrmann M. | 05/30/2015 |
| Rare CTRC genotypes contributed to the development of idiopathic chronic pancreatitis in 4.3% of cases. | 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, Chen JM, Audrézet MP, Cooper DN, Férec C., Free PMC Article | 05/3/2014 |
| Chymotrypsin C variants reveals distinct loss-of-function mechanisms associated with chronic pancreatitis risk. | Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Beer S, Zhou J, Szabó A, Keiles S, Chandak GR, Witt H, Sahin-Tóth M., Free PMC Article | 12/21/2013 |
| This study on a large cohort of tropical calcific pancreatitis patients provides evidence of allelic heterogeneity and confirms that CTRC variants play a significant role in its pathogenesis. | Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.
Paliwal S, Bhaskar S, Mani KR, Reddy DN, Rao GV, Singh SP, Thomas V, Chandak GR. | 12/21/2013 |
| long-range electrostatic attraction toward substrates of concentrated negative charge governs substrate discrimination, which explains CTRC selectivity in regulating active digestive enzyme levels | Long-range electrostatic complementarity governs substrate recognition by human chymotrypsin C, a key regulator of digestive enzyme activation.
Batra J, Szabó A, Caulfield TR, Soares AS, Sahin-Tóth M, Radisky ES., Free PMC Article | 06/1/2013 |