ArticleEMBO reports2018
WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Article in EMBO reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 53 citations in OpenAlex.
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Altered spontaneous brain activity is associated with cognitive impairment in patients with Kallmann syndrome.Reproductive biology and endocrinology : RB&E · 2026Article
- Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.International journal of molecular sciences · 2025Article
- Splicing control by PHF5A is crucial for melanoma cell survival.Cell proliferation · 2025Article
- Article
- FAM91A1-TBC1D23 complex structure reveals human genetic variations susceptible for PCH.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development.Scientific reports · 2023Article
- Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.European journal of human genetics : EJHG · 2023Review
- Quantitative Image Processing for Three-Dimensional Episcopic Images of Biological Structures: Current State and Future Directions.Biomedicines · 2023Review
- Article
- FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.Human molecular genetics · 2023Article
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.American journal of human genetics · 2022Article
- Epidemiology of Male Hypogonadism.Endocrinology and metabolism clinics of North America · 2022Review
- Balancing the length of the distal tip by septins is key for stability and signalling function of primary cilia.The EMBO journal · 2022Article
- Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.Frontiers in endocrinology · 2022Article
- Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report.Frontiers in pediatrics · 2022Article
- Article
- Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.European journal of human genetics : EJHG · 2021Article
- The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 5 countries.
Funding
Abstract
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 in phenotypic characteristics associated with defective Hh signalling, accompanied by dysgenesis of ciliated tissues.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.