MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

doi:10.1136/jmedgenet-2015-103250

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Article

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Journal of medical genetics - 1 Jan 2016

Slaats Gisela G, Isabella Christine R, Kroes Hester Y, Dempsey Jennifer C, Gremmels Hendrik, Monroe Glen R, Phelps Ian G, Duran Karen J, Adkins Jonathan, Kumar Sairam A, Knutzen Dana M, Knoers Nine V, Mendelsohn Nancy J, Neubauer David, Mastroyianni Sotiria D, Vogt Julie, Worgan Lisa, Karp Natalya, Bowdin Sarah, Glass Ian A, Parisi Melissa A, Otto Edgar A, Johnson Colin A, Hildebrandt Friedhelm, van Haaften Gijs, Giles Rachel H, Doherty Dan

Abstract excerpt

BACKGROUND: Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel-Gruber syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as...

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Identifiers

PMID: 26490104
DOI: 10.1136/jmedgenet-2015-103250
PMCID: PMC5060087

Genes

MKS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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MKS1 regulates ciliary INPP5E levels in Joubert syndrome.PMID 26490104Read ↗

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