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

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...

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Veröffentlicht in:	EMBO reports 2018-02, Vol.19 (2), p.269-289
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Animals Biopsy Cilia Ciliopathies - genetics Ciliopathies - metabolism ciliopathy Congenital diseases Cytoplasm Disorders EMBO05 EMBO24 EMBO37 Gene Expression Gene Expression Profiling Gene Knockout Techniques Genetic Association Studies Genetic disorders Genotype Gli3 protein Haploinsufficiency Hedgehog protein Hedgehog Proteins - metabolism hedgehog signal pathway Humans Hypogonadism hypogonadotropic hypogonadism Infertility kallmann syndrome Kallmann Syndrome - diagnosis Kallmann Syndrome - genetics Kallmann Syndrome - metabolism Kallmann's syndrome Magnetic Resonance Imaging Membrane Proteins - genetics Membrane Proteins - metabolism Mice Mice, Knockout Mutation Nuclei Organ Specificity - genetics Patched-1 Receptor - genetics Phenotype Pituitary (anterior) Promoter Regions, Genetic Protein Binding Protein Transport Proteolysis Puberty Signal Transduction Signaling Transcriptome WDR11 Zebrafish
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