相关实验视频

Updated: Feb 28, 2026

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein
09:59

Functional Reconstitution and Channel Activity Measurements of Purified Wildtype and Mutant CFTR Protein

Published on: March 9, 2015

12.7K

对CFTR变异I507del的临床,功能和治疗评估

Neeraj Sharma1, Katherine Starego1, Hongyu Li2

  • 1Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
|February 25, 2026
PubMed
概括

囊性纤维化 (CF) 的I507del变体对elexacaftor-tezacaftor-ivacaftor (ETI) 的反应很小,对vanzacaftor-tezacaftor-ivacaftor (VTI) 的效果有限. 对于携带这种变体的CF患者,建议仔细考虑调节器治疗.

关键词:
在 CFTR 函数中,CFTR 函数是埃莱克萨卡夫托尔 (Elexacaftor) 是一个F508del 是一个字母.我507德尔的时间这就是Ivacaftor的原因.泰萨卡弗托尔 (Tezacaftor) 是一个范萨卡夫托尔是一名盗窃者.在 mRNA 丰富度上.

更多相关视频

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients07:04

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

20.2K
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

11.2K

相关概念视频

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
953
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
588
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies01:27

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
3.2K
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation01:30

Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation

Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
993