ArticleFEBS letters2017
An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.
Article in FEBS letters, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.Journal of cell science · 2025Article
- A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.European journal of human genetics : EJHG · 2025Article
- CPLANE protein INTU regulates growth and patterning of the mouse lungs through cilia-dependent Hh signaling.Developmental biology · 2024Article
- Article
- An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling.bioRxiv : the preprint server for biology · 2024Article
- Ciliogenesis-associated Kinase 1 Promotes Breast Cancer Cell Proliferation and Chemoresistance via Phosphorylating ERK1.International journal of biological sciences · 2024Article
- The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.Molecular and cellular biology · 2023Article
- Modulation of Primary Cilia by Alvocidib Inhibition of CILK1.International journal of molecular sciences · 2022Article
- Ciliary Hedgehog signaling patterns the digestive system to generate mechanical forces driving elongation.Nature communications · 2021Article
- Mice Harboring a Non-FunctionalInternational journal of molecular sciences · 2021Article
- Review
- Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Article
- Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome.EBioMedicine · 2019Article
- Ciliogenesis associated kinase 1: targets and functions in various organ systems.FEBS letters · 2019Review
- Article
- Interplay Between Primary Cilia and Autophagy and Its Controversial Roles in Cancer.Biomolecules & therapeutics · 2019Review
- A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.Calcified tissue international · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. To elucidate the molecular basis of ECO syndrome, we constructed an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Newborns bearing Ick R272Q homozygous mutations die at birth due to respiratory distress. Ick mutant lungs exhibit not only impaired branching morphogenesis associated with reduced mesenchymal proliferation but also significant airspace deficiency in primitive alveoli concomitant with abnormal interstitial mesenchymal differentiation. ICK dysfunction induces elongated primary cilia and perturbs ciliary Hedgehog signaling and autophagy during lung sacculation. Our study identifies an essential role for ICK in lung development and advances the mechanistic understanding of ECO syndrome.
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Registered trials
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