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- W2774846509 endingPage "401" @default.
- W2774846509 startingPage "356" @default.
- W2774846509 abstract "Human “ciliopathies,” congenital developmental defects arising from cilia dysfunction, are thought to affect more than 1 per 2000 people. A subset of ciliopathies are skeletal syndromes marked by a narrowed thorax with shortened ribs, polydactyly and variable extraskeletal findings including renal and retinal involvement. These are usually caused by gene mutations affecting ciliary intraflagellar transport (IFT). Most mutations affect the IFT retrograde motor, cytoplasmic IFT dynein-2, most commonly its heavy chain dynein, DYNC2H1. Mutations are also found in its dynein intermediate chains, WDR60 and WDR34; light–intermediate chain, DYNC2LI1; and one light chain, TCTEX1D2. These retrograde motor dynein mutations can cause both lethal short-rib polydactyly syndromes and Jeune asphyxiating thoracic dysplasia with high (∼80%) survival, without any clear phenotype–genotype correlations. Mutations affecting motor-associated IFT complex A and B proteins (IFT140, IFT172, IFT80, and more rarely IFT144, IFT139/TTC21B) and several proteins localizing to the ciliary base can also cause skeletal ciliopathies. Here we describe clinical aspects of dynein biology focusing on the spectrum of IFT-associated skeletal abnormalities." @default.
- W2774846509 created "2017-12-22" @default.
- W2774846509 creator A5013522956 @default.
- W2774846509 creator A5033536108 @default.
- W2774846509 date "2018-01-01" @default.
- W2774846509 modified "2023-09-25" @default.
- W2774846509 title "Severe skeletal abnormalities caused by defects in retrograde intraflagellar transport dyneins" @default.
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