Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis

被引:6
作者
Sandor, Mate [1 ]
Sahin-Toth, Miklos [1 ,2 ]
机构
[1] Univ Calif Los Angeles, Dept Surg, Los Angeles, CA USA
[2] Univ Calif Los Angeles, Dept Surg, Los Angeles, CA 90095 USA
关键词
CHRONIC PANCREATITIS; GENETIC TESTING;
D O I
10.1136/gutjnl-2023-331105
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:1589 / 1590
页数:2
相关论文
共 8 条
[1]   Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice [J].
Hegyi, Eszter ;
Sahin-Toth, Miklos .
GUT, 2019, 68 (02) :301-312
[2]   A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis [J].
Kujko, Aleksandra A. ;
Berki, Dorottya M. ;
Oracz, Grzegorz ;
Wejnarska, Karolina ;
Antoniuk, Justyna ;
Wertheim-Tysarowska, Katarzyna ;
Kolodziejczyk, Elwira ;
Bal, Jerzy ;
Sahin-ToTh, Miklos ;
Rygiel, Agnieszka M. .
GUT, 2017, 66 (09) :1728-+
[3]   Genetics of Pancreatitis: The 2014 Update [J].
Masamune, Atsushi .
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2014, 232 (02) :69-77
[4]   Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance [J].
Nemeth, Balazs Csaba ;
Orekhova, Anna ;
Zhang, Wenying ;
Nortman, Shannon A. ;
Thompson, Tyler ;
Hegyi, Peter ;
Abu-El-Haija, Maisam .
GUT, 2020, 69 (04) :790-792
[6]   Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1) [J].
Sandor, Mate ;
Thiel, Franziska G. ;
Schmid, Margit ;
Demcsak, Alexandra ;
Granda, Nataly C. Morales ;
Nemeth, Balazs Csaba ;
Vajda, Sandor ;
Hoerning, Andre ;
Sahin-Toth, Miklos .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (24)
[7]   Variants in CPA1 are strongly associated with early onset chronic pancreatitis [J].
Witt, Heiko ;
Beer, Sebastian ;
Rosendahl, Jonas ;
Chen, Jian-Min ;
Chandak, Giriraj Ratan ;
Masamune, Atsushi ;
Bence, Melinda ;
Szmola, Richard ;
Oracz, Grzegorz ;
Macek, Milan, Jr. ;
Bhatia, Eesh ;
Steigenberger, Sandra ;
Lasher, Denise ;
Buehler, Florence ;
Delaporte, Catherine ;
Tebbing, Johanna ;
Ludwig, Maren ;
Pilsak, Claudia ;
Saum, Karolin ;
Bugert, Peter ;
Masson, Emmanuelle ;
Paliwal, Sumit ;
Bhaskar, Seema ;
Sobczynska-Tomaszewska, Agnieszka ;
Bak, Daniel ;
Balascak, Ivan ;
Choudhuri, Gourdas ;
Reddy, D. Nageshwar ;
Rao, G. Venkat ;
Thomas, Varghese ;
Kume, Kiyoshi ;
Nakano, Eriko ;
Kakuta, Yoichi ;
Shimosegawa, Tooru ;
Durko, Lukasz ;
Szabo, Andras ;
Schnur, Andrea ;
Hegyi, Peter ;
Rakonczay, Zoltan, Jr. ;
Pfuetzer, Roland ;
Schneider, Alexander ;
Groneberg, David Alexander ;
Braun, Markus ;
Schmidt, Hartmut ;
Witt, Ulrike ;
Friess, Helmut ;
Alguel, Hana ;
Landt, Olfert ;
Schuelke, Markus ;
Krueger, Renate .
NATURE GENETICS, 2013, 45 (10) :1216-U359
[8]   Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis [J].
Zhu, Guoying ;
Wilhelm, Steven J. ;
George, Leah G. ;
Cassidy, Brett M. ;
Zino, Sammy ;
Luke, Cliff J. ;
Hanna, Mina ;
Stone, Stephen ;
Phan, Nhung ;
Matiwala, Neel ;
Ballentine, Samuel J. ;
Lowe, Mark E. ;
Xiao, Xunjun .
GUT, 2023, 72 (07) :1340-1354