Related references
Note: Only part of the references are listed.WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
Celine Huber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
Aideen M. McInerney-Leo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Miriam Schmidts et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Genevieve Baujat et al.
JOURNAL OF MEDICAL GENETICS (2013)
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Miriam Schmidts et al.
JOURNAL OF MEDICAL GENETICS (2013)
Ciliary disorder of the skeleton
Celine Huber et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
The 2.8 Å crystal structure of the dynein motor domain
Takahide Kon et al.
NATURE (2012)
Structural Basis for Microtubule Binding and Release by Dynein
William B. Redwine et al.
SCIENCE (2012)
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Denise P. Cavalcanti et al.
JOURNAL OF MEDICAL GENETICS (2011)
Crystal Structure of the Dynein Motor Domain
Andrew P. Carter et al.
SCIENCE (2011)
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
Amy E. Merrill et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Nathalie Dagoneau et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Philip L. Beales et al.
NATURE GENETICS (2007)
Share Paper
