ArticleAmerican journal of human genetics2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers.
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90 citing papers in PubMed, 193 citations in OpenAlex.
- Disrupted PQBP1-HNRNPU-LINE-1 axis underlies aberrant neurodevelopment in renpenning syndrome.Molecular psychiatry · 2026Article
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.EBioMedicine · 2026Article
- Altered spontaneous brain activity is associated with cognitive impairment in patients with Kallmann syndrome.Reproductive biology and endocrinology : RB&E · 2026Article
- Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways.Frontiers in pediatrics · 2026Article
- Differential plasma proteome analysis reveals key proteins associated with insulin resistance in acne vulgaris patients.Scientific reports · 2025Article
- Refining antipsychotic treatment strategies in schizophrenia: discovery of genetic biomarkers for enhanced drug response prediction.Molecular psychiatry · 2025Article
- Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.International journal of molecular sciences · 2025Article
- Article
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 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
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- The hidden hedgehog of the pituitary: hedgehog signaling in development, adulthood and disease of the hypothalamic-pituitary axis.Frontiers in endocrinology · 2023Review
- Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism.International journal of general medicine · 2023Article
- Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs.PLoS genetics · 2023Article
- Genetics of pubertal delay.Clinical endocrinology · 2022Review
- Adult-onset reversible idiopathic hypogonadotropic hypogonadism in male adult carrying aBMJ case reports · 2022Article
- Disease Modeling of Rare Neurological Disorders in Zebrafish.International journal of molecular sciences · 2022Review
- 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
30 more citing papers are in PubMed but not listed here.
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Authors and funding
24 authors at 13 institutions in 7 countries.
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Abstract
By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for β propeller formation and protein-protein interaction. In addition, we discovered that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfactory neurons, and that missense alterations reduce or abolish this interaction. Our findings suggest that impaired pubertal development in these patients results from a deficiency of productive WDR11 protein interaction.
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