Search Results - "Cassidy, Brett M."

Single nucleotide polymorphisms in CEL‐HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding by Cassidy, Brett M., Zino, Sammy, Fjeld, Karianne, Molven, Anders, Lowe, Mark E., Xiao, Xunjun

“…Genetic variants contribute to the risk of chronic pancreatitis (CP) in adults and children. The risk variant CEL‐HYB1, a recombinant hybrid allele of CEL and…”
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Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis by 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

“…Increasing evidence implicates mutation-induced protein misfolding and endoplasm reticulum (ER) stress in the pathophysiology of chronic pancreatitis (CP). The…”
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Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency by Lin, Jianguo, Matiwala, Neel, Curry, Grace E, Wilhelm, Steven J, Cassidy, Brett M, Lowe, Mark E, Xiao, Xunjun

“…Studies of a rare homozygous missense mutation identified in two brothers diagnosed with congenital pancreatic lipase deficiency (CPLD) provided the first…”
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Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort by Cassidy, Brett M., Jiang, Fei, Lin, Jianguo, Chen, Jian-Min, Curry, Grace E., Ma, Guo-Xiu, Wilhelm, Steven J., Deng, Shun-Jiang, Zhu, Guoying, Liao, Zhuan, Lowe, Mark E., Xiao, Xunjun K., Zou, Wen-Bin

“…Protease-sensitive PNLIP variants were recently associated with chronic pancreatitis (CP) in European populations. The pathological mechanism yet remains…”
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