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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
Mutations in genes affecting intraflagellar transport account for some but not all cases of short rib polydactyly syndromes. Here Taylor et al. use whole exome sequencing and in vivo cell line assays to identify novel disease associated mutations in DYNC2LI1.
- S. Paige Taylor
- , Tiago J. Dantas
- & Deborah Krakow
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| Open AccessTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Severe congenital development defects such as Jeune syndrome can result from the malfunction of primary cilia and dynein. Here Schmidts et al. report unique biallelic null mutations in a gene encoding a dynein light chain, helping to explain the nature of ciliopathies in human patients.
- Miriam Schmidts
- , Yuqing Hou
- & Hou-Feng Zheng