CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Nav1. 8
Liu C, et al.
Molecular and Cellular Neurosciences, 28(4), 636-649 (2005)
Analysis of LRRC45 indicates cooperative functions of distal appendages at early steps of ciliogenesis.
Kurtulmus B, et al.
bioRxiv, 205625-205625 (2017)
Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.
Faily S, et al.
European Journal of Medical Genetics, 60(10), 527-532 (2017)
Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling.
Li J, et al.
Human Molecular Genetics, 26(15), 2949-2960 (2017)
Satoshi Katagiri et al.
Scientific reports, 8(1), 16733-16733 (2018-11-15)
Senior Løken syndrome (SLS) is a heterogeneous disorder characterized by severe retinal degenerations and juvenile-onset nephronophthisis. Genetic variants in ten different genes have been reported as the causes of SLS. Clinical evaluation of a patient with SLS and her unaffected...