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American Journal of Respiratory Cell and Molecular Biology|May 6, 2026
mRNA therapy improves the composition and motility in CCDC40-deficient cilia in vitro and in vivoKai Wohlgemuth, Margarida Rasteiro, Manish Aneja, et al.American Journal of Human Genetics|July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryRim Hjeij, Anna Lindstrand, Richard Francis, et al.Kidney International Reports|September 12, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With NephronophthisisJens Christian König, Rebeka Karsay, Joachim Gerß, et al.Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.American Journal of Respiratory Cell and Molecular Biology|February 25, 2016
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm ComplexesGerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, et al.American Journal of Human Genetics|October 22, 2019
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body AsymmetryJulia Wallmeier, Diana Frank, Amelia Shoemark, et al.American Journal of Human Genetics|September 6, 2014
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationRim Hjeij, Alexandros Onoufriadis, Christopher M Watson, et al.Nature Genetics|July 23, 2013
DYX1C1 is required for axonemal dynein assembly and ciliary motilityAarti Tarkar, Niki T Loges, Christopher E Slagle, et al.American Journal of Human Genetics|September 24, 2013
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein armsMichael R Knowles, Lawrence E Ostrowski, Niki T Loges, et al.Nature Communications|November 3, 2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis moduleGerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, et al.Pageof 7