rs193922525
|
|
|
0.840 |
GeneticVariation |
BEFREE |
However, mutations that disrupt the interaction of ATP with ATP-binding site 1, including K464A, D572N and the CF-associated mutation G1349D all abolished the prolongation of τ<sub>cf</sub> at pH<sub>i</sub> 6.3.
|
27779763 |
2017 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
BEFREE |
We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF.
|
28655774 |
2017 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs193922525
|
|
A |
0.840 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.
|
21931512 |
2011 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
|
19914443 |
2009 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.
|
17761616 |
2007 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
BEFREE |
We conclude that G551D- and G1349D-CFTR have distinct pharmacological profiles and speculate that drug therapy for CF is likely to be mutation-specific.
|
16311240 |
2006 |
rs193922525
|
|
A |
0.840 |
GeneticVariation |
CLINVAR |
Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.
|
15638824 |
2005 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
|
15789152 |
2005 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
BEFREE |
The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.
|
15163550 |
2004 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Standards and guidelines for CFTR mutation testing.
|
12394352 |
2003 |
rs193922525
|
|
|
0.840 |
GeneticVariation |
UNIPROT |
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
|
11280952 |
2001 |
rs193922525
|
|
A |
0.840 |
GeneticVariation |
CLINVAR |
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
|
10762539 |
2000 |
rs193922525
|
|
A |
0.840 |
GeneticVariation |
CLINVAR |
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
|
7544319 |
1995 |
rs193922525
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
|
|
|