Idiopathic pancreatitis related to CFTR: Complex inheritance and identification of a modifier gene

Journal of Investigative Medicine

Volumn 50, Issue 5, 2002, Pages

  Cohn, Jonathan A ^a   Noone, Peadar G ^a   Jowell, Paul S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CHLORIDE; CYCLIC AMP; PROTEIN KINASE; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN INHIBITOR; APROTININ; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; TRYPSINOGEN;

ADOLESCENT; ADULT; CHILD; CHRONIC PANCREATITIS; CLINICAL ARTICLE; CONFERENCE PAPER; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; IDIOPATHIC DISEASE; MALE; PANCREATITIS; PATHOGENESIS; PHENOTYPE; PREVALENCE; SPIROMETRY; SWEAT TEST; ARTICLE; DNA SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; MIDDLE AGED; MUTATIONAL ANALYSIS; PROTEIN FUNCTION; SCHOOL CHILD;

EID: 0036713680     PISSN: 17088267     EISSN: None     Source Type: Journal    
DOI: 10.1136/jim-50-suppl5-01     Document Type: Conference Paper

References (72)

1. Chronic pancreatitis: Diagnosis, classification, and new genetic developments
2. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
3. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
4. Cystic fibrosis
5. Cystic fibrosis
6. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
7. Identification of the cystic fibrosis gene: Genetic analysis
8. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
9. Defective regulation of outwardly rectifying Cl-channels by protein kinase A corrected by insertion of CFTR
10. CFTR as a cAMP-dependent regulator of sodium channels
11. - exchange in mouse submandibular and pancreatic ducts
12. Phosphorylation fails to activate chloride channels from cystic fibrosis airway cells
13. Rectum has abnormal ion transport but normal cAMP-binding proteins in cystic fibrosis
14. Protein phosphorylation responses in normal and cystic fibrosis airway epithelial cell lines
15. Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel
16. Characterization of the cystic fibrosis transmembrane conductance regulator in a colonocyte cell line
17. Phosphorylation of the cystic fibrosis transmembrane conductance regulator
18. Cystic fibrosis: Genotypic and phenotypic variations
19. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
20. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
21. Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR
22. Submucosal glands are the predominant site of CFTR expression in the human bronchus
23. Mislocalization of ΔF508 CFTR in cystic fibrosis sweat gland
24. The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment
25. Multiple proteolytic systems, including the proteasome, contribute to CFTR processing
26. Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunction
27. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis
28. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
29. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations
30. Infertility in male patients with cystic fibrosis
31. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
32. Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance
33. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
34. CFTR Development of high-affinity antibodies and localization in sweat gland
35. Localization of the cystic fibrosis transmembrane conductance regulator in pancreas
36. Pathology of cystic fibrosis: Review of the literature and comparison with 146 autopsied cases
37. 3-secretion in cystic fibrosis
38. Pancreatic fluid secretion and protein hyperconcentration in cystic fibrosis
39. Origins of chloride and bicarbonate secretory defects in the cystic fibrosis pancreas as suggested by pancreatic function studies on control and CF subjects with preserved pancreatic function
40. Three-dimensional reconstruction of the pancreatic ducts in chronic pancreatitis
41. Pathology and pathogenesis of diseases of the pancreas
42. Histological study of alcoholic, nonalcoholic, and obstructive chronic pancreatitis
43. Sweat electrolytes in chronic pancreatitis
44. The significance of the sweat test in chronic pancreatitis
45. Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes
46. Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations
47. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
48. Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens
49. Mutations in the gene encoding the serine protease inhibitor. Kazal type 1 are associated with chronic pancreatitis
50. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
51. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis
52. Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis
53. In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
54. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
55. Increased prevalence of mutations of the cystic fibrosis gene in idiopathic chronic and recurrent pancreatitis (letter)
56. Polyvariant mutant CFTR genes in patients with chronic pancreatitis
57. Pancreatitis and cystic fibrosis gene mutations
58. Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis
59. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
60. Does complete DNA analysis identify a higher percentage of cystic fibrosis gene mutations in patients with idiopathic chronic and recurrent acute pancreatitis (abstract)?
61. Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): Correlation between genotype and phenotype
62. Congenital absence of the vas deferens: Incomplete penetrance of cystic fibrosis gene mutations
63. Cystic fibrosis syndrome: A new paradigm for inherited disorders and implications for molecular diagnostics
64. Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis
65. Cystic fibrosis genotypes and alcoholic pancreatitis
66. Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis
67. CFTR dysfunction may explain pancreatitis in patients with pancreas divisum
68. Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells
69. Regulation of membrane chloride currents in rat bile duct epithelial cells
70. Primary sclerosing cholangitis is associated with abnormalities in cystic fibrosis-mediated chloride channel function
71. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
72. The diagnosis of cystic fibrosis: A consensus statement: Cystic Fibrosis Foundation Consensus Panel