Detalhe da pesquisa
1.
The Kalimantacin Polyketide Antibiotics Inhibit Fatty Acid Biosynthesis in Staphylococcus aureus by Targeting the Enoyl-Acyl Carrier Protein Binding Site of FabI.
Angew Chem Int Ed Engl
; 59(26): 10549-10556, 2020 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32208550
2.
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association.
Eur Respir J
; 50(5)2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122913
3.
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.
J Med Genet
; 48(1): 24-31, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837493
4.
Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
J Cyst Fibros
; 21(4): 644-651, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690578
5.
Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease.
Am J Respir Crit Care Med
; 182(2): 163-9, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20378733
6.
The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema.
Am J Respir Crit Care Med
; 181(5): 486-93, 2010 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20007924
7.
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Hum Mutat
; 31(4): 421-8, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052766
8.
A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.
J Physiol
; 588(Pt 8): 1211-25, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20194130
9.
Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis.
Cell Physiol Biochem
; 25(1): 145-58, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20054153
10.
The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation.
Life (Basel)
; 11(1)2020 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33375403
11.
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Hum Mutat
; 30(7): 1093-103, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19462466
12.
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.
Nucleic Acids Res
; 35(Database issue): D690-5, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17135191
13.
Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?
Eur Respir J
; 42(4): 1159-61, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24081772
14.
Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
J Cyst Fibros
; 7(2): 102-9, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17662673
15.
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
J Cyst Fibros
; 16(4): 488-491, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28233695
16.
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
Eur J Hum Genet
; 14(5): 567-76, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16493442
17.
Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel.
FEBS Lett
; 579(16): 3392-6, 2005 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15936019
18.
Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells.
J Periodontol
; 76(8): 1293-303, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16101361
19.
The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions.
J Cyst Fibros
; 1(1): 13-29, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15463806
20.
Is there evidence for correct diagnosis in cystic fibrosis registries?
J Cyst Fibros
; 13(3): 275-80, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24274930