Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
about
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaRequirements for Efficient Correction of ΔF508 CFTR Revealed by Analyses of Evolved SequencesComplement yourself: Transcomplementation rescues partially folded mutant proteins.Melanocortin 3 receptor has a 5' exon that directs translation of apically localized protein from the second in-frame ATG.The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.The hypertonic environment differentially regulates wild-type CFTR and TNR-CFTR chloride channels.Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] alleleRestoration of NBD1 thermal stability is necessary and sufficient to correct ∆F508 CFTR folding and assemblyGout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small moleculesTruncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.Cystic fibrosis genetics: from molecular understanding to clinical application.Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.Structural determinants for rCNT2 sorting to the plasma membrane of polarized and non-polarized cells.Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
P2860
Q24310215-AC398620-46D2-47AE-96B7-D55CF82DE639Q27676826-4E946646-A082-49FF-9AD3-CF3A29F1411CQ33763709-00F6D9A2-CA28-4794-ABAD-9AEDC98E090DQ34131659-73145BDF-AD65-40E5-BF12-8554594CAD7EQ34285307-8639F8C1-6510-4570-B48A-8BAB679251C9Q34625411-0F46B146-A739-4F69-85E2-DCC3E4232CA8Q35199944-22DC19D7-B9AC-446F-BE79-98D788F1CFD3Q36591437-77152758-0948-4DC4-9390-3AD1C987BD1FQ36729796-9CDA3B47-8F69-4382-A530-FDE2A63C47A9Q37389602-6826F2B1-F6A6-4DEF-84A4-CEBE1F178020Q37418902-CF2B5BB2-1E9B-4821-8FF5-A5C266A411B8Q38268916-43C2B4EC-44CE-4E19-A3BE-102064C3C19BQ38971197-96815B28-D25A-4260-9393-58FA462F903AQ42394236-0DE49F51-904A-4284-9716-E0DE2E865622Q46368190-A7C88C2D-0770-4185-81B1-5083C37468B4Q47649705-4823CE00-D0CB-43D6-9B97-AD7074662DBBQ48199671-4A7B70F6-C50A-4B7A-A10F-F208F568D4B1Q51763381-A8CCD0C6-1CEB-41EB-9E85-E2D297FD84EAQ52367423-851EEBDA-82E6-477D-9F72-7AF0CB30EC9A
P2860
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Localization studies of rare m ...... otype-phenotype relationships.
@en
Localization studies of rare m ...... membrane conductance regulator
@nl
type
label
Localization studies of rare m ...... otype-phenotype relationships.
@en
Localization studies of rare m ...... membrane conductance regulator
@nl
prefLabel
Localization studies of rare m ...... otype-phenotype relationships.
@en
Localization studies of rare m ...... membrane conductance regulator
@nl
P2093
P2860
P356
P1433
P1476
Localization studies of rare m ...... notype-phenotype relationships
@en
P2093
Garry R Cutting
Kristina V Krasnov
William B Guggino
P2860
P304
P356
10.1002/HUMU.20866
P50
P577
2008-11-01T00:00:00Z