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Article

Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).

Molecular and cellular endocrinology - 5 Dec 2015

McCabe Mark J, Hu Youli, Gregory Louise C, Gaston-Massuet Carles, Alatzoglou Kyriaki S, Saldanha José W, Gualtieri Angelica, Thankamony Ajay, Hughes Ieuan, Townshend Sharron, Martinez-Barbera Juan-Pedro, Bouloux Pierre-Marc, Dattani Mehul T

Abstract excerpt

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...

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Identifiers

PMID: 26375424
DOI: 10.1016/j.mce.2015.09.010
PMCID: PMC4646839

Genes

FGFR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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