'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
about
Patterns of GI disease in adulthood associated with mutations in the CFTR geneAsthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based studyAnimal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and DivergencesGenetic variation and clinical heterogeneity in cystic fibrosisThe H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closingMeasurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.How to identify the genetic basis of gastrointestinal and liver diseases?Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients.Protein traffic disorders: an effective high-throughput fluorescence microscopy pipeline for drug discovery.Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis.Screening for single gene genetic disease.Quantification of type II procollagen splice forms using alternative transcript-qPCR (AT-qPCR)Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction in Chronic Bronchitis and Other Diseases of Mucus ClearanceCFTR activity and mitochondrial function.A major susceptibility locus for specific language impairment is located on 13q21.Exon identity crisis: disease-causing mutations that disrupt the splicing code.Cystic fibrosis transmembrane conductance regulator protein (CFTR) expression in the developing human brain: comparative immunohistochemical study between patients with normal and mutated CFTR.Cystic fibrosis genetics: from molecular understanding to clinical application.Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa.Mortality from cystic fibrosis in Europe: 1994-2010.Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.Hitting the target: new treatments for cystic fibrosis.Analysis of cystic fibrosis gener product (CFTR) function in patients with pancreas divisum and recurrent acute pancreatitis.Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses.Single nucleotide polymorphisms related to cystic fibrosis in chronic rhinositus-a pilot study.Nasal airway ion transport and lung function in young people with cystic fibrosis.Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.The therapeutic potential of CFTR modulators for COPD and other airway diseases.Rational approach to genetic testing of cystic fibrosis (CF) in infertile men.
P2860
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P2860
'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@ast
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@en
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@nl
type
label
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@ast
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@en
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@nl
prefLabel
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@ast
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@en
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@nl
P2860
P921
P3181
P356
P1433
P1476
'CFTR-opathies': disease pheno ...... brane regulator gene mutations
@en
P2093
M R Knowles
P2860
P2888
P304
P3181
P356
10.1186/RR82
P407
P577
2001-08-09T00:00:00Z
P5875
P6179
1044622055