Progress in understanding the molecular pathology and microbiology of cystic fibrosis.,The Lancet Respiratory Medicine

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Progress in understanding the molecular pathology and microbiology of cystic fibrosis.
The Lancet Respiratory Medicine ( IF 38.7 ) Pub Date : 2019-09-27 , DOI: 10.1016/s2213-2600(19)30333-9
Burkhard Tümmler ₁

Affiliation

Since the discovery of the cystic fibrosis transmembrane conductance regulator ( CFTR) gene in 1989, cystic fibrosis has become a paradigm for cutting-edge basic, translational, and clinical research, which has transformed a devastating disease of childhood to a chronic condition with a reasonable quality of life that can last for decades. Being a monogenic autosomal recessive trait, cystic fibrosis was one of the first inherited disorders for which the disease-causing lesions were resolved by reverse genetics and subsequent mutation scanning of the affected gene. Of the more than 2000 known CFTR variants, clinical information and results of functional testing are currently available for more than 400 individual variants on The Clinical and Functional Translation of CFTR (CFTR2) .

中文翻译：

在了解囊性纤维化的分子病理学和微生物学方面的进展。

自1989年发现囊性纤维化跨膜电导调节剂（CFTR）基因以来，囊性纤维化已成为尖端基础，转化和临床研究的范例，已将儿童的毁灭性疾病转变为合理的慢性病可以持续数十年的生活质量。囊性纤维化是一种单基因常染色体隐性遗传性疾病，是最早的遗传性疾病之一，可通过反向遗传学和随后对受影响基因的突变扫描来解决引起疾病的病变。在2000多种已知的CFTR变体中，有关CFTR的临床和功能翻译（CFTR2）的400多个个体变体，目前可获得临床信息和功能测试结果。

更新日期：2019-12-20

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