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

Gut

Volumn 62, Issue 11, 2013, Pages 1616-1624

  Beer, Sebastian ^a   Zhou, Jiayi ^a   Szabó, András ^a   Keiles, Steven ^b   Chandak, Giriraj Ratan ^c   Witt, Heiko ^d,e   Sahin Tóth, Miklós ^a  

^a BOSTON UNIVERSITY   (United States)

^b AMBRY GENETICS   (United States)

^c CENTRE FOR CELLULAR AND MOLECULAR BIOLOGY   (India)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHYMOTRYPSIN; CHYMOTRYPSIN C; TRYPSIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CATALYSIS; CHRONIC PANCREATITIS; CONTROLLED STUDY; CTRC GENE; EMBRYO; ENDOPLASMIC RETICULUM STRESS; ENZYME ACTIVITY; ENZYME DEGRADATION; ENZYME RELEASE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK ASSESSMENT; RISK FACTOR; WILD TYPE;

PANCREATIC DISEASE; PANCREATIC DISORDERS; PANCREATIC ENZYMES; PANCREATIC PHYSIOLOGY; PANCREATITIS;

BIOCATALYSIS; CHYMOTRYPSIN; CULTURE MEDIA, CONDITIONED; ENDOPLASMIC RETICULUM STRESS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEK293 CELLS; HUMANS; MUTATION, MISSENSE; PANCREATITIS, CHRONIC; TRYPSIN;

EID: 84885611335     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2012-303090     Document Type: Article

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