Article
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Scientific reports - 1 Jul 2015
Kessler Kristin, Wunderlich Ina, Uebe Steffen, Falk Nathalie S, Gießl Andreas, Brandstätter Johann Helmut, Popp Bernt, Klinger Patricia, Ekici Arif B, Sticht Heinrich, Dörr Helmuth-Günther, Reis André, Roepman Ronald, Seemanová Eva, Thiel Christian T
Abstract excerpt
Skeletal ciliopathies are a heterogeneous group of autosomal recessive osteochondrodysplasias caused by defects in formation, maintenance and function of the primary cilium. Mutations in the underlying genes affect the molecular motors, intraflagellar transport complexes (IFT), or the basal body....
Topics
- Cilia
- Codon, Nonsense
- Cytoplasmic Dyneins
- Exome
- Fibroblasts
- Fluorescent Antibody Technique
- Heterozygote
- Humans
- Mutation
- Protein Structure, Tertiary
- Sequence Analysis, DNA