The most prevalent disease-causing mutation of CFTR is the deletion of Phe508 (ΔF508),
which leads to defects in conventional Golgi-mediated exocytosis and cell surface expression. …

Autism spectrum disorder (ASD) is a group of conditions characterized by impaired social
interaction and communication, and restricted and repetitive behaviours. ASD is a highly …

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in
the first two decades of life. Effective treatment is lacking. First insights into disease …

Sodium–glucose cotransporter 2 (SGLT2) inhibitors reduce cardiovascular events in
humans with type 2 diabetes (T2D); however, the underlying mechanism remains unclear. …

… Authorship note: Shazia Ashraf and Heon Yung Gee contributed equally to this work. …
Authorship note: Shazia Ashraf and Heon Yung Gee contributed equally to this work. …

Chronic kidney disease (CKD) represents a major health burden 1 . Its central feature of renal
fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as …

Intraflagellar transport (IFT) depends on two evolutionarily conserved modules,
subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A …

Primary ciliary dyskinesia (PCD) is caused when defects of motile cilia lead to chronic
airway infections, male infertility, and situs abnormalities. Multiple causative PCD mutations …

Rationale: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder
of motile cilia, but the genetic cause is not defined for all patients with PCD. Objectives: To …

Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent
respiratory infections and male infertility. Using whole-exome resequencing and high-…