Cystic fibrosis transmembrane conductance regulator - Wikipedia
Cystic fibrosis transmembrane conductance regulator (CFTСR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [5][6] Geneticist Lap-Chee Tsui and …
CFTR - Johns Hopkins Cystic Fibrosis Center
The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7. Mutations in this gene lead to CF. Since the discovery of the CFTR gene in 1989, more than …
CFTR function, pathology and pharmacology at single-molecule
2023年3月22日 · Here we combine ensemble functional measurements, single-molecule fluorescence resonance energy transfer, electrophysiology and kinetic simulations to show …
CFTR Gene - GeneCards | CFTR Protein | CFTR Antibody
2024年12月24日 · CFTR (CF Transmembrane Conductance Regulator) is a Protein Coding gene. Diseases associated with CFTR include Cystic Fibrosis and Vas Deferens, Congenital …
NM_000492.3(CFTR):c.1210-12T[5] AND Cystic fibrosis
2023年9月4日 · NM_000492.3 (CFTR):c.1210-7_1210-6delTT (aka IVS8-5T or 5T) is a variant within the polyT tract located within intron 8 of the CFTR gene. 5T has been observed in …
Molecular mechanisms of cystic fibrosis – how mutations lead to ...
Cystic fibrosis, the most common autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which …
囊性纤维化的发病机制和分子调节治疗的研究进展 - 中华实用儿科 …
囊性纤维化 (CF)是一种常染色体隐性单基因遗传病，由于囊性纤维化跨膜传导调节蛋白 (CFTR)基因纯合和双重杂合突变所致。 CFTR 基因编码的是一种氯离子通道蛋白，分布于气道、胰腺 …
CFTR CF transmembrane conductance regulator [ (human)]
Data show that 7 cystic fibrosis causing cystic fibrosis transmembrane conductance regulator (CFTR) mutations were identified in 10 patients. This study was the first to explore the …
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR …
By analyzing 30 YAC clones from the region of chromosome 7 containing the CFTR gene, a contig map spanning more than 1.5 Mbp was assembled. Individual YACs as large as 790 kb …
【遗传病科普】什么是囊性纤维化？ - 知乎 - 知乎专栏
囊性纤维化病是因7号染色体上称为cftr （囊性纤维化跨膜电导调节剂）的缺陷基因突变导致。 该基因产生的蛋白质通常有助于盐（氯化钠）进出细胞。 如果蛋白质不能…