[HTML][HTML] Organic Synthesis and Current Understanding of the Mechanisms of CFTR Modulator Drugs Ivacaftor, Tezacaftor, and Elexacaftor

FC Ferreira, CD Buarque, M Lopes-Pacheco - Molecules, 2024 - mdpi.com
The monogenic rare disease Cystic Fibrosis (CF) is caused by mutations in the gene
encoding the CF transmembrane conductance (CFTR) protein, an anion channel expressed …

Cystic Fibrosis in an Adolescent: A “Miranda Warning” Against Blaming TB—A Case-Based Scholarly Update

AY Adela, AG Kebede, D Zewdneh… - … Health, Medicine and …, 2024 - Taylor & Francis
Cystic fibrosis (CF) is a multisystem disorder that occurs as a result of autosomal recessive
congenital transmission of CF transmembrane conductance regulator (CFTR) gene mutation …

Human genetics of face recognition: discovery of MCTP2 mutations in humans with face blindness (congenital prosopagnosia)

Y Sun, W Men, I Kennerknecht, W Fang, HF Zheng… - Genetics, 2024 - academic.oup.com
Face recognition is important for both visual and social cognition. While prosopagnosia or
face blindness has been known for seven decades and face-specific neurons for half a …