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1993 2
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2006 30
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Page 1
PRSS1-Related Hereditary Pancreatitis.
Shelton C, Solomon S, LaRusch J, Whitcomb DC. Shelton C, et al. 2012 Mar 1 [updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Mar 1 [updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22379635 Free Books & Documents. Review.
GENETIC COUNSELING: HP caused by gain-of-function PRSS1 pathogenic variants is inherited in an autosomal dominant manner. The proportion of PRSS1-related HP caused by a de novo pathogenic variant is unknown. ...
GENETIC COUNSELING: HP caused by gain-of-function PRSS1 pathogenic variants is inherited in an autosomal dominant manner. The proport …
Transgenic Expression of PRSS1(R122H) Sensitizes Mice to Pancreatitis.
Huang H, Swidnicka-Siergiejko AK, Daniluk J, Gaiser S, Yao Y, Peng L, Zhang Y, Liu Y, Dong M, Zhan X, Wang H, Bi Y, Li Z, Ji B, Logsdon CD. Huang H, et al. Gastroenterology. 2020 Mar;158(4):1072-1082.e7. doi: 10.1053/j.gastro.2019.08.016. Epub 2019 Aug 13. Gastroenterology. 2020. PMID: 31419436 Free PMC article.
Blood was collected and serum amylase activity was measured. RESULTS: Pancreata from mice expressing transgenes encoding PRSS1 or PRSS1(R122H) had focal areas of inflammation; these lesions were more prominent in mice that express PRSS1(R122H). ...Administrat …
Blood was collected and serum amylase activity was measured. RESULTS: Pancreata from mice expressing transgenes encoding PRSS1 or …
Clinical interpretation of PRSS1 variants in patients with pancreatitis.
Girodon E, Rebours V, Chen JM, Pagin A, Levy P, Ferec C, Bienvenu T. Girodon E, et al. Clin Res Hepatol Gastroenterol. 2021 Jan;45(1):101497. doi: 10.1016/j.clinre.2020.07.004. Epub 2020 Nov 27. Clin Res Hepatol Gastroenterol. 2021. PMID: 33257277 Review.
Since the description of the PRSS1 gene encoding the cationic trypsinogen as being involved in dominant hereditary pancreatitis, more than 50 PRSS1 variants have been reported. Among the PRSS1 variants that have been classified as pathogenic, some have a high …
Since the description of the PRSS1 gene encoding the cationic trypsinogen as being involved in dominant hereditary pancreatitis, more …
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB, Tang XY, Zhou DZ, Qian YY, Hu LH, Yu FF, Yu D, Wu H, Deng SJ, Lin JH, Zhao AJ, Zhao ZH, Wu HY, Zhu JH, Qian W, Wang L, Xin L, Wang MJ, Wang LJ, Fang X, He L, Masson E, Cooper DN, Férec C, Li ZS, Chen JM, Liao Z. Zou WB, et al. Clin Transl Gastroenterol. 2018 Nov 12;9(11):204. doi: 10.1038/s41424-018-0069-5. Clin Transl Gastroenterol. 2018. PMID: 30420730 Free PMC article.
OBJECTIVES: Rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR genes have been strongly associated with a risk of developing chronic pancreatitis (CP). ...CONCLUSIONS: We provide evidence that rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR …
OBJECTIVES: Rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR genes have been strongly associated with a risk of developi …
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. Masson E, et al. PLoS One. 2013 Aug 8;8(8):e73522. doi: 10.1371/journal.pone.0073522. eCollection 2013. PLoS One. 2013. PMID: 23951356 Free PMC article.
For the first time, conventional types of mutation (comprising coding sequence variants and variants at intron/exon boundaries) and gross genomic rearrangements were screened for in all four major pancreatitis genes, PRSS1, SPINK1, CTRC and CFTR. For the purposes of the st …
For the first time, conventional types of mutation (comprising coding sequence variants and variants at intron/exon boundaries) and gross ge …
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
Zou WB, Cooper DN, Masson E, Pu N, Liao Z, Férec C, Chen JM. Zou WB, et al. Hum Genet. 2022 Aug;141(8):1327-1338. doi: 10.1007/s00439-022-02436-x. Epub 2022 Jan 28. Hum Genet. 2022. PMID: 35089416 Review.
Trypsinogen (PRSS1, PRSS2) copy number gains and regulatory variants have both been proposed to elevate pancreatitis risk through a gene dosage effect (i.e., by increasing the expression of wild-type protein). ...Mouse studies that analyzed the influence of a transgenicall …
Trypsinogen (PRSS1, PRSS2) copy number gains and regulatory variants have both been proposed to elevate pancreatitis risk through a g …
Diagnosis and Management of Chronic Pancreatitis: A Review.
Singh VK, Yadav D, Garg PK. Singh VK, et al. JAMA. 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. JAMA. 2019. PMID: 31860051 Review.
Approximately 1% of people diagnosed with CP may have hereditary pancreatitis, associated with cationic trypsinogen (PRSS1) gene mutations. Approximately 80% of people with CP present with recurrent or chronic upper abdominal pain. ...
Approximately 1% of people diagnosed with CP may have hereditary pancreatitis, associated with cationic trypsinogen (PRSS1) gene muta …
PRSS1 Upregulation Predicts Platinum Resistance in Ovarian Cancer Patients.
Xing L, Tian S, Mi W, Zhang Y, Zhang Y, Zhang Y, Xu F, Zhang C, Lou G. Xing L, et al. Front Cell Dev Biol. 2021 Jan 28;8:618341. doi: 10.3389/fcell.2020.618341. eCollection 2020. Front Cell Dev Biol. 2021. PMID: 33585454 Free PMC article.
PRSS1's expression pattern was continuously studied in Oncomine and cBio Cancer Genomic Portal databases, revealing the key roles of PRSS1 in ovarian cancer formation. ...By cell transfection assay, we observed that knockdown of PRSS1 reduced the resistance o …
PRSS1's expression pattern was continuously studied in Oncomine and cBio Cancer Genomic Portal databases, revealing the key roles of …
Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.
Németh BC, Sahin-Tóth M. Németh BC, et al. Am J Physiol Gastrointest Liver Physiol. 2014 Mar;306(6):G466-73. doi: 10.1152/ajpgi.00419.2013. Epub 2014 Jan 23. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 24458023 Free PMC article. Review.
However, not all PRSS1 variants are pathogenic, and clinical relevance of rare variants is often difficult to ascertain. Here we review the PRSS1 variants published since 1996 and discuss their functional properties and role in chronic pancreatitis....
However, not all PRSS1 variants are pathogenic, and clinical relevance of rare variants is often difficult to ascertain. Here we revi …
539 results