ArticleMolecular and cellular endocrinology2015
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
Article in Molecular and cellular endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Pooled it
- Management of Acquired Hypothalamic Dysfunction and the Hypothalamic Syndrome; It Is More Than Obesity.Endocrine reviews · 2025Review
- Appetite- and Weight-Regulating Neuroendocrine Circuitry in Hypothalamic Obesity.Endocrine reviews · 2024Review
- Growth hormone deficiency in a case of septo-optic-dysplasia due toBMJ case reports · 2022Article
- Anosmin-1-Like Effect of UMODL1/Olfactorin on the Chemomigration of Mouse GnRH Neurons and Zebrafish Olfactory Axons Development.Frontiers in cell and developmental biology · 2022Article
- Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.The Journal of clinical endocrinology and metabolism · 2021Article
- Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.Human genetics · 2021Review
- Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.Frontiers in pediatrics · 2020Review
- An association with hypopituitarism and 9q subtelomere deletion syndrome.Clinical case reports · 2018Article
- ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1.Briefings in functional genomics · 2017Article
- Brain Lesions in Children with Unilateral Spastic Cerebral Palsy.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2017Article
- Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2017Article
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 4 countries.
Funding
Abstract
KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). To date, a reporter-based assay to assess the functional consequences of KAL1 mutations is lacking. We aimed to develop a luciferase assay for novel application to functional assessment of rare KAL1 mutations detected in a screen of 422 patients with SOD. Quantitative analysis was performed using L6-myoblasts stably expressing FGFR1, transfected with a luciferase-reporter vector containing elements of the FGF-responsive osteocalcin promoter. The two variants assayed [p.K185N, p.P291T], were detected in three females with SOD (presenting with optic nerve hypoplasia, midline and pituitary defects). Our novel assay revealed significant decreases in transcriptional activity [p.K185N: 21% (p < 0.01); p.P291T: 40% (p < 0.001)]. Our luciferase-reporter assay, developed for assessment of KAL1 mutations, determined that two variants in females with hypopituitarism/SOD are loss-of-function; demonstrating that this assay is suitable for quantitative assessment of mutations in this gene.
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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.