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1 - 10 of 11 results found for DYNC2H1.

  1. DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal...

    http://iris.ucl.ac.uk/iris/publication/1842956/3

  2. Mutations in DYNC2H1 are common in Jeune Asphyxating Thoracic Dysplasia (JATD) without...

    http://iris.ucl.ac.uk/iris/publication/840670/11

  3. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic...

    http://iris.ucl.ac.uk/iris/publication/879999/1

  4. Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune...

    In recent years whole-exome sequencing has been developed, a technique by which all exons of the genome (all the protein-coding DNA) can be sequenced at once. Here we show that whole-exome sequencing, using either 35 or 50 Mb Agilent kits for exome

    http://iris.ucl.ac.uk/iris/publication/428925/1

  5. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

    PURPOSE: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). METHODS: Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed to

    http://iris.ucl.ac.uk/iris/publication/1806612/1

  6. DYNC2H1 Mutations are commonly found in Jeune Asphyxating Thoracic Dysplasia (JATD)...

    Background: JATD is a rare autosomal-recessively inherited ciliary chondrodysplasia exhibiting high perinatal lethality. Mutations in several genes encoding mostly intraflagellar transport proteins such as IFT80, DYNC2H1, IFT144, WDR35, NEK1, TTC21B

    http://iris.ucl.ac.uk/iris/publication/891581/1

  7. Publications by iBSc Paediatric Students | UCL Great Ormond Street...

    identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly. .

    https://www.ucl.ac.uk/child-health/study/postgraduate-taught-programmes
    /ibsc-paediatrics-child-health/publications-ibsc-paediatric

  8. Severe skeletal abnormalities caused by defects in retrograde intraflagellar transport...

    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

    http://iris.ucl.ac.uk/iris/publication/1540680/7

  9. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune...

    Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2

    http://iris.ucl.ac.uk/iris/publication/916069/2

  10. Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune...

    Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2

    http://iris.ucl.ac.uk/iris/publication/921800/7

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