Associated Papers
Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.
Phuong PT et al.
Orphanet Journal of Rare Diseases, 2025
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
CFTR complex alleles and phenotypic variability in cystic fibrosis disease.
El-Seedy A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.
Guo R et al.
Diagnostic Pathology, 2024
[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].
Zhang JY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024
Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.
Anton-Păduraru DT et al.
Diagnostics (basel, Switzerland), 2024
An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.
Wang M et al.
Journal of Assisted Reproduction and Genetics, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
A Chinese pediatric cystic fibrosis patient with the c.1624G>T, p. Gly542x/c.223C>T, p. Arg75x genotype.
Zhang R et al.
Pediatric Pulmonology, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Qu X et al.
Scientific Reports, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Shen Y et al.
Journal of Medical Genetics, 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
Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.
Cheng H et al.
Journal of Assisted Reproduction and Genetics, 2022
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Nappo S et al.
Annals of Human Genetics, 2020
Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.
Wang H et al.
Andrology, 2020
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
Zou WB et al.
Clinical and Translational Gastroenterology, 2018
Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.
Guan WJ et al.
Journal of Thoracic Disease, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2017
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.
Wang G et al.
The Journal of Biological Chemistry, 2012
Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.
El Hiani Y et al.
Biochemistry, 2012
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.
Polizzi A et al.
Genetics and Molecular Biology, 2011
COMMD1-mediated ubiquitination regulates CFTR trafficking.
Drévillon L et al.
Plos One, 2011
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Green DM et al.
Respiratory Research, 2010
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Lucarelli M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
Izumikawa K et al.
Internal Medicine (tokyo, Japan), 2009
Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
Lin CJ et al.
Pediatrics and Neonatology, 2008
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
Clain J et al.
Human Genetics, 2005
First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.
Jalalirad M et al.
Journal of Tropical Pediatrics, 2004
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
Fujiki K et al.
Journal of Medical Genetics, 2004
A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.
Naruse S et al.
Pancreas, 2004
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Wong LJ et al.
American Journal of Medical Genetics. Part A, 2003
[Molecular genetics principles in cystic fibrosis. An example of genetic illness in pneumology].
Tümmler B et al.
Der Internist, 2003
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
Alper OM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.
Anzai C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2003
Three autopsied cases of cystic fibrosis in Japan.
Iwasa S et al.
Pathology International, 2001
Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.
Clain J et al.
The Journal of Biological Chemistry, 2001