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  1. INPP5E regulates phosphoinositide-dependent cilia transition zone function

    http://iris.ucl.ac.uk/iris/publication/1638545/1

  2. INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium...

    http://iris.ucl.ac.uk/iris/publication/1638546/3

  3. A compartmentalized phosphoinositide signaling axis at cilia is regulated by INPP5E to...

    http://iris.ucl.ac.uk/iris/publication/1638543/1

  4. INPP5E mutations cause primary cilium signaling defects, ciliary instability and...

    http://iris.ucl.ac.uk/iris/publication/438606/11

  5. Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic...

    ABSTRACT

    Purpose

    Pathogenic variants in INPP5E cause Joubert syndrome, a systemic disorder that can manifest with retinal degeneration among other clinical features. We aimed to evaluate the role of INPP5E variants in non-syndromic

    http://iris.ucl.ac.uk/iris/publication/1850964/18

  6. Dr James Cox | Wolfson Institute for Biomedical Research - UCL –...

    2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet 41: 1027-1031.

    https://www.ucl.ac.uk/wolfson-institute-biomedical-research/molecular-nociception-group/dr-james-cox

  7. Dr Anu Sironen | UCL Great Ormond Street Institute of Child Health -...

    A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs.

    https://www.ucl.ac.uk/child-health/dr-anu-sironen

  8. β-catenin ablation exacerbates polycystic kidney disease progression

    Polycystic kidney disease (PKD) results from excessive renal epithelial cell proliferation, leading to the formation of large fluid filled cysts which impair renal function and frequently lead to renal failure. Hyperactivation of numerous signaling

    http://iris.ucl.ac.uk/iris/publication/1638542/7

  9. AKT signaling promotes DNA damage accumulation and proliferation in polycystic kidney...

    Abstract Polycystic kidney disease (PKD) results in the formation of renal cysts that can impair function leading to renal failure. DNA damage accumulates in renal epithelial cells in PKD but the molecular mechanisms

    http://iris.ucl.ac.uk/iris/publication/1718358/1

  10. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

    © 2020, The Author(s). Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families harboring the homozygous MINPP1 (NM

    http://iris.ucl.ac.uk/iris/publication/1829296/1

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