Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CTRC: V235I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CTRC: V235I; rs140993290

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Hereditary pancreatitis: An updated review in pediatrics.

World Journal Of Clinical Pediatrics

Panchoo, Arvind Vasant AV; VanNess, Grant H GH; Rivera-Rivera, Edgardo E; Laborda, Trevor J TJ

Publication Date: 2022-01-09

Variant appearance in text: CTRC: V235I

PubMed Link: 35096544

Variant Present in the following documents:

• WJCP-11-27.pdf

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Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Genes

Wertheim-Tysarowska, Katarzyna K; Oracz, Grzegorz G; Rygiel, Agnieszka Magdalena AM

Publication Date: 2021-05-20

Variant appearance in text: CTRC: Val235Ile

PubMed Link: 34065437

Variant Present in the following documents:

• Main text
• genes-12-00785.pdf

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.

Genes

Chen, Jian-Min JM; Herzig, Anthony F AF; Génin, Emmanuelle E; Masson, Emmanuelle E; Cooper, David N DN; Férec, Claude C

Publication Date: 2021-03-25

Variant appearance in text: CTRC: 703G>A; Val235Ile

PubMed Link: 33806082

Variant Present in the following documents:

• genes-12-00471-s001.pdf

View BVdb publication page

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Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Bmc Medical Genomics

Suárez-González, Julia J; Seidel, Verónica V; Andrés-Zayas, Cristina C; Izquierdo, Elvira E; Buño, Ismael I

Publication Date: 2021-03-26

Variant appearance in text: CTRC: 703G>A; Val235Ile; rs140993290

PubMed Link: 33771153

Variant Present in the following documents:

• 12920_2021_943_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.

Diagnostics (Basel, Switzerland)

Suzuki, Mitsuyoshi M; Minowa, Kei K; Nakano, Satoshi S; Isayama, Hiroyuki H; Shimizu, Toshiaki T

Publication Date: 2020-12-26

Variant appearance in text: CTRC: V235I

PubMed Link: 33375361

Variant Present in the following documents:

• Main text
• diagnostics-11-00031.pdf

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The histopathology of SPINK1-associated chronic pancreatitis.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]

Jones, Terrell E TE; Bellin, Melena D MD; Yadav, Dhiraj D; Freeman, Martin L ML; Schwarzenberg, Sarah J SJ; Slivka, Adam A; Chennat, Jennifer S JS; Beilman, Gregory J GJ; Chinnakotla, Srinath S; Pruett, Timothy L TL; Kirchner, Varvara V; Humar, Abhinav A; Wijkstrom, Martin M; Zureikat, Amer H AH; Nikiforova, Marina N MN; Wald, Abigail I AI; Whitcomb, David C DC; Singhi, Aatur D AD

Publication Date: 2020-12

Variant appearance in text: CTRC: V235I

PubMed Link: 33097431

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CTRC: 703G>A; Val235Ile; rs140993290

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications

von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M

Publication Date: 2020-01-16

Variant appearance in text: CTRC: V235I

PubMed Link: 31949146

Variant Present in the following documents:

• 41467_2019_13915_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature

Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-10

Variant appearance in text: CTRC: V235I

PubMed Link: 31664194

Variant Present in the following documents:

• NIHMS1539056-supplement-2.xlsx, sheet 5

View BVdb publication page

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Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Gastroenterology

Mayerle, Julia J; Sendler, Matthias M; Hegyi, Eszter E; Beyer, Georg G; Lerch, Markus M MM; Sahin-Tóth, Miklós M

Publication Date: 2019-05

Variant appearance in text: CTRC: V235I

PubMed Link: 30660731

Variant Present in the following documents:

• Main text

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: CTRC: V235I; rs140993290

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Surace, Cecilia C; Terlizzi, Vito V; Da Sacco, Letizia L; Alghisi, Federico F; Angiolillo, Antonella A; Braggion, Cesare C; Cirilli, Natalia N; Colombo, Carla C; Di Lullo, Antonella A; Padoan, Rita R; Quattrucci, Serena S; Raia, Valeria V; Tuccio, Giuseppe G; Zarrilli, Federica F; Tomaiuolo, Anna Cristina AC; Novelli, Antonio A; Lucidi, Vincenzina V; Lucarelli, Marco M; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2018-07-27

Variant appearance in text: CTRC: V235I

PubMed Link: 30134826

Variant Present in the following documents:

• Main text
• 10020_2018_Article_41.pdf

View BVdb publication page

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Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.

Digestive Diseases And Sciences

Hegyi, Eszter E; Sahin-Tóth, Miklós M

Publication Date: 2017-07

Variant appearance in text: CTRC: V235I

PubMed Link: 28536777

Variant Present in the following documents:

• Main text
• 10620_2017_Article_4601.pdf

View BVdb publication page

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Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics

Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A

Publication Date: 2017-07

Variant appearance in text: CTRC: V235I

PubMed Link: 28502372

Variant Present in the following documents:

• Main text

View BVdb publication page

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CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.

Bmc Gastroenterology

Koziel, Dorota D; Gluszek, Stanislaw S; Kowalik, Artur A; Chlopek, Malgorzata M

Publication Date: 2017-01-17

Variant appearance in text: CTRC: V235I

PubMed Link: 28095786

Variant Present in the following documents:

• Main text
• 12876_2016_Article_566.pdf

View BVdb publication page

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Causal Evaluation of Acute Recurrent and Chronic Pancreatitis in Children: Consensus From the INSPPIRE Group.

Journal Of Pediatric Gastroenterology And Nutrition

Gariepy, Cheryl E CE; Heyman, Melvin B MB; Lowe, Mark E ME; Pohl, John F JF; Werlin, Steven L SL; Wilschanski, Michael M; Barth, Bradley B; Fishman, Douglas S DS; Freedman, Steven D SD; Giefer, Matthew J MJ; Gonska, Tanja T; Himes, Ryan R; Husain, Sohail Z SZ; Morinville, Veronique D VD; Ooi, Chee Y CY; Schwarzenberg, Sarah J SJ; Troendle, David M DM; Yen, Elizabeth E; Uc, Aliye A

Publication Date: 2017-01

Variant appearance in text: CTRC: V235I

PubMed Link: 27782962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary pancreatitis: current perspectives.

Clinical And Experimental Gastroenterology

Raphael, Kara L KL; Willingham, Field F FF

Publication Date: 2016

Variant appearance in text: CTRC: V235I

PubMed Link: 27555793

Variant Present in the following documents:

• Main text
• ceg-9-197.pdf

View BVdb publication page

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Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports

Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G

Publication Date: 2016-08-22

Variant appearance in text: CTRC: V235I

PubMed Link: 27545006

Variant Present in the following documents:

• srep31628-s2.xls, sheet 1
• srep31628-s2.xls, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CTRC: 703G>A; V235I; rs140993290

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CTRC: 703G>A; V235I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CTRC: V235I

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.

Molecular Medicine (Cambridge, Mass.)

Sofia, Valentina Maria VM; Da Sacco, Letizia L; Surace, Cecilia C; Tomaiuolo, Anna Cristina AC; Genovese, Silvia S; Grotta, Simona S; Gnazzo, Maria M; Ciocca, Laura L; Petrocchi, Stefano S; Alghisi, Federico F; Montemitro, Enza E; Martemucci, Luigi L; Elce, Ausilia A; Lucidi, Vincenzina V; Castaldo, Giuseppe G; Angioni, Adriano A

Publication Date: 2016-09

Variant appearance in text: CTRC: 703G>A; Val235Ile

PubMed Link: 27264265

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CTRC: V235I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis.

Bmc Gastroenterology

Koziel, Dorota D; Gluszek, Stanislaw S; Kowalik, Artur A; Chlopek, Malgorzata M; Pieciak, Liliana L

Publication Date: 2015-06-23

Variant appearance in text: CTRC: 703G>A; V235I

PubMed Link: 26100556

Variant Present in the following documents:

• Main text
• 12876_2015_Article_302.pdf

View BVdb publication page

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Genetic and phenotypic heterogeneity in tropical calcific pancreatitis.

World Journal Of Gastroenterology

Paliwal, Sumit S; Bhaskar, Seema S; Chandak, Giriraj R GR

Publication Date: 2014-12-14

Variant appearance in text: CTRC: 703G>A; V235I

PubMed Link: 25516642

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of acute and chronic pancreatitis: An update.

World Journal Of Gastrointestinal Pathophysiology

Ravi Kanth, Vv V; Nageshwar Reddy, D D

Publication Date: 2014-11-15

Variant appearance in text: CTRC: V235I

PubMed Link: 25400986

Variant Present in the following documents:

• Main text

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Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Bmj Open

Wang, Wei W; Sun, Xiao-Tian XT; Weng, Xiao-Ling XL; Zhou, Dai-Zhan DZ; Sun, Chang C; Xia, Tian T; Hu, Liang-Hao LH; Lai, Xiao-Wei XW; Ye, Bo B; Liu, Mu-Yun MY; Jiang, Fei F; Gao, Jun J; Bo, Lu-Min LM; Liu, Yun Y; Liao, Zhuan Z; Li, Zhao-Shen ZS

Publication Date: 2013-09-03

Variant appearance in text: CTRC: 703G>A

PubMed Link: 24002981

Variant Present in the following documents:

• Main text
• bmjopen-2013-003150.draft_revisions.pdf
• bmjopen-2013-003150.pdf

View BVdb publication page

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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

Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C

Publication Date: 2013

Variant appearance in text: CTRC: V235I

PubMed Link: 23951356

Variant Present in the following documents:

• Main text
• pone.0073522.s001.xls, sheet 1

View BVdb publication page

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Genetic risk factors for pancreatic disorders.

Gastroenterology

Whitcomb, David C DC

Publication Date: 2013-06

Variant appearance in text: CTRC: V235I

PubMed Link: 23622139

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Gut

Beer, Sebastian S; Zhou, Jiayi J; Szabó, András A; Keiles, Steven S; Chandak, Giriraj Ratan GR; Witt, Heiko H; Sahin-Tóth, Miklós M

Publication Date: 2013-11

Variant appearance in text: CTRC: 703G>A; V235I

PubMed Link: 22942235

Variant Present in the following documents:

• Main text

View BVdb publication page

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The mutational landscape of lethal castration-resistant prostate cancer.

Nature

Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA

Publication Date: 2012-07-12

Variant appearance in text: CTRC: V235I

PubMed Link: 22722839

Variant Present in the following documents:

• NIHMS368879-supplement-2.xlsx, sheet 4

View BVdb publication page

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Chymotrypsin C mutations in chronic pancreatitis.

Journal Of Gastroenterology And Hepatology

Zhou, Jiayi J; Sahin-Tóth, Miklós M

Publication Date: 2011-08

Variant appearance in text: CTRC: V235I

PubMed Link: 21631589

Variant Present in the following documents:

• Main text

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Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Nature Genetics

Rosendahl, Jonas J; Witt, Heiko H; Szmola, Richárd R; Bhatia, Eesh E; Ozsvári, Béla B; Landt, Olfert O; Schulz, Hans-Ulrich HU; Gress, Thomas M TM; Pfützer, Roland R; Löhr, Matthias M; Kovacs, Peter P; Blüher, Matthias M; Stumvoll, Michael M; Choudhuri, Gourdas G; Hegyi, Péter P; te Morsche, René H M RH; Drenth, Joost P H JP; Truninger, Kaspar K; Macek, Milan M; Puhl, Gero G; Witt, Ulrike U; Schmidt, Hartmut H; Büning, Carsten C; Ockenga, Johann J; Kage, Andreas A; Groneberg, David Alexander DA; Nickel, Renate R; Berg, Thomas T; Wiedenmann, Bertram B; Bödeker, Hans H; Keim, Volker V; Mössner, Joachim J; Teich, Niels N; Sahin-Tóth, Miklós M

Publication Date: 2008-01

Variant appearance in text: CTRC: 703G>A; V235I

PubMed Link: 18059268

Variant Present in the following documents:

• Main text

View BVdb publication page

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