Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.1K citations · Full text

Haplotype Determination, Human Variation, Integrated Map +9

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Heike Olbrich, Karsten Häffner, Andreas Kispert et al. · Nature Genetics · 2002 · 550 citations

Genome Instability, Mendelian Disorder, Genetic Disorder +6

Bending patterns of <i>Chlamydomonas</i> flagella: IV. Mutants with defects in inner and outer dynein arms indicate differences in dynein arm function

Charles J. Brokaw, Ritsu Kamiya · Cell Motility and the Cytoskeleton · 1987 · 403 citations

Engineering, Genetics, Molecular Biology +20

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Gaëlle Pennarun, Estelle Escudier, Catherine Chapelin et al. · The American Journal of Human Genetics · 1999 · 393 citations · Full text

Mendelian Disorder, Genetics, Pathogenesis +6

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

Heymut Omran, Daisuke Kobayashi, Heike Olbrich et al. · Nature · 2008 · 373 citations

Natural Sciences, Axonemal Dyneins, Molecular Biology +7