Associated Papers
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Markulić J et al.
Bmj Open, 2025
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
Kay DM et al.
Pediatric Pulmonology, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Hirai S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2023
Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis.
Fujita S et al.
Endocrine Journal, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
The CFTR gene variants in Japanese children with idiopathic pancreatitis.
Iso M et al.
Human Genome Variation, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
Nefzi M et al.
Pathologie-biologie, 2015
Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.
Kondo S et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.
Nakano E et al.
Digestive Diseases and Sciences, 2015
CFTR polymorphisms of healthy individuals in two Chinese cities--Changchun and Nanjing.
Jin CX et al.
Nagoya Journal of Medical Science, 2012
Association of CFTR gene mutation with bronchial asthma.
Maurya N et al.
The Indian Journal of Medical Research, 2012
Physiology and pathophysiology of bicarbonate secretion by pancreatic duct epithelium.
Ishiguro H et al.
Nagoya Journal of Medical Science, 2012
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea.
Kim KW et al.
Yonsei Medical Journal, 2010
Naturally occurring mutations in the canine CFTR gene.
Spadafora D et al.
Physiological Genomics, 2010
A novel computational and structural analysis of nsSNPs in CFTR gene.
George Priya Doss C et al.
Genomic Medicine, 2008
Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?
Naruse S et al.
Journal of Gastroenterology, 2007
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Keiles S et al.
Pancreas, 2006
Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.
Koh WJ et al.
Journal of Korean Medical Science, 2006
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
Do CFTR gene polymorphisms determine the susceptibility to alcoholic chronic pancreatitis?
Naruse S
Internal Medicine (tokyo, Japan), 2004
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
Fujiki K et al.
Journal of Medical Genetics, 2004
A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.
Lee JH et al.
Human Molecular Genetics, 2003
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.
Bernardino AL et al.
Jop : Journal of the Pancreas, 2003
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR.
Saito S et al.
Journal of Human Genetics, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Impact of cystic fibrosis transmembrane conductance regulator gene mutation on the occurrence of chronic pancreatitis in Japanese patients.
Aoyagi H et al.
The Journal of International Medical Research, 0