Condition: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
rs191456345 in
CFTR gene and
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
PMID 28785019 2017 Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.
PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.
PMID 23687349 2013 Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.
PMID 9239681 1996 Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
PMID 22483971 2012 Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.
PMID 28830496 2017 What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
PMID 7739684 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
PMID 16196493 2006 Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
PMID 23104983 2013 Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.
PMID 15097853 2004 Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
PMID 25033378 2014 Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
PMID 19810821 2009 The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders.
PMID 19812525 2010 Independent contribution of common CFTR variants to chronic pancreatitis.
PMID 10376575 1999 Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
PMID 25735457 2016 Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
PMID 26003066 2015 Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
PMID 18685558 2009 Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
PMID 17175965 2006 [Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation].
PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
PMID 27264265 2016 Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
PMID 20059485 2010 Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
PMID 9272157 1997 Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
PMID 17507277 2007 [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)].
PMID 10755189 2000 CFTR gene mutations and male infertility.
PMID 15121783 2004 Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
PMID 11118444 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.
PMID 15537723 2004 First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.
PMID 21483833 2011 COMMD1-mediated ubiquitination regulates CFTR trafficking.
PMID 12940920 2003 The phenotypic consequences of CFTR mutations.
PMID 15084988 2004 A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.
PMID 20932301 2010 Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
PMID 9550362 1998 Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.
PMID 16840743 2006 Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
PMID 19166122 2008 Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
PMID 15744523 2005 A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.
PMID 24697796 2014 Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?