Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation.

Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation.

Item
http://www.wikidata.org/entity/Q44200339
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.Apical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis.The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs.Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypesRegulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators.Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells.Elevated Mirc1/Mir17-92 cluster expression negatively regulates autophagy and CFTR (cystic fibrosis transmembrane conductance regulator) function in CF macrophages.Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.An unexpected effect of TNF-α on F508del-CFTR maturation and function.Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
P2860

Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation.

Item
http://www.wikidata.org/entity/Q44200339
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
@zh-hans
2002年学术文章
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2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
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name
Normal function of the cystic ...... mozygous (Delta)F508 mutation.
@en
Normal function of the cystic ...... be associated with homozygous
@nl
type
label
Normal function of the cystic ...... mozygous (Delta)F508 mutation.
@en
Normal function of the cystic ...... be associated with homozygous
@nl
prefLabel
Normal function of the cystic ...... mozygous (Delta)F508 mutation.
@en
Normal function of the cystic ...... be associated with homozygous
@nl
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P1476
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Normal function of the cystic ...... mozygous (Delta)F508 mutation.
@en
P2093
P2860
P2888
P304
P31
P356
10.1203/00006450-200211000-00005
P407
P433
P478
P577
P6179
P698
P921