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Article

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.

EMBO reports - 1 Feb 2018

Kim Yeon-Joo, Osborn Daniel Ps, Lee Ji-Young, Araki Masatake, Araki Kimi, Mohun Timothy, Känsäkoski Johanna, Brandstack Nina, Kim Hyun-Taek, Miralles Francesc, Kim Cheol-Hee, Brown Nigel A, Kim Hyung-Goo, Martinez-Barbera Juan Pedro, Ataliotis Paris, Raivio Taneli, Layman Lawrence C, Kim Soo-Hyun

Abstract excerpt

WDR11 has been implicated in congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility. However, WDR11's role in development is poorly understood. Here, we report that WDR11 modulates the Hedgehog (Hh) signalling pathway and is essential for ciliogenesis. Disruption of WDR11 expression in mouse and zebrafish results...

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Source

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Identifiers

PMID: 29263200
DOI: 10.15252/embr.201744632
PMCID: PMC5797970

Genes

EMX1
GLI3

Provenance

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WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.PMID 29263200Read ↗

WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndromeSemantic proximity Read ↗

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