Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
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囊性纤维化跨膜调节基因和体内跨上皮电位的突变。
DOI：
10.1164/rccm.200509-1377oc
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发表时间：
2006
影响因子：
24.7
通讯作者：
Durie,Peter
中科院分区：
文献类型：
--
作者：
Wilschanski,Michael;Dupuis,Annie;Ellis,Lynda;Jarvi,Keith;Zielenski,Julian;Tullis,Elizabeth;Martin,Sheelagh;Corey,Mary;Tsui,Lap-Chee;Durie,Peter
Aim:To examine the relationship between cystic fibrosis transmembrane regulator gene mutations (CFTR) andin vivotransepithelial potentials.Methods:We prospectively evaluated 162 men including 31 healthy subjects, 21 obligate heterozygotes, 60 with congenital bilateral absence of the vas deferens (CBAVD) and 50 with CF by extensive CFTR genotyping, sweat chloride and nasal potential difference testing.Results:Six (10%) men with CBAVD carried no CFTR mutations, 18 (30%) carried one mutation, including the 5T variant, and 36 (60%) carried mutations on both alleles, for a significantly higher rate carrying one or more mutations than healthy controls (90% versus 19%, p < 0.001). There was an overlapping spectrum of ion channel measurements among the men with CBAVD, ranging from values in the control and obligate heterozygote range at one extreme, to values in the CF range at the other. All pancreatic-sufficient patients with CF and 34 of 36 patients with CBAVD with mutations on both alleles carried at least one mild mutation. However, the distribution of mild mutations in the two groups differed greatly. Genotyping, sweat chloride and nasal potential difference (alone or in combination) excluded CF in all CBAVD men with no mutations. CF was confirmed in 56% and 67% of CBAVD men carrying 1 and 2 CFTR mutations, respectively.Conclusion:Abnormalities of CFTR transepithelial function correlate with the number and severity of CFTR gene mutations.
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影响因子：
--
作者：
B. Landing;T. R. Wells;C. I. Wang
通讯作者：
C. I. Wang
先天性双侧附睾或输精管发育不全的无精子症男性的整个 CFTR 编码区和剪接点分析
影响因子：
5.3
作者：
J. Culard;M. Desgeorges;Pierre Costa;M. Laussel;Gaby Razakatzara;H. Navratil;J. Demaille;M. Claustres
通讯作者：
M. Claustres
影响因子：
9.8
作者：
P. Kristidis;D. Bozon;M. Corey;D. Markiewicz;J. Rommens;Lap-Chee Tsui;P. Durie
通讯作者：
P. Kristidis;D. Bozon;M. Corey;D. Markiewicz;J. Rommens;Lap-Chee Tsui;P. Durie
影响因子：
30.8
作者：
CHU, CS;TRAPNELL, BC;CRYSTAL, RG
通讯作者：
CRYSTAL, RG
影响因子：
158.5
作者：
KAPLAN, E;SHWACHMA.H;HOLSCLAW, DS
通讯作者：
HOLSCLAW, DS