MKS1 regulates ciliary INPP5E levels in Joubert syndrome
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
About this item
Full title
Author / Creator
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 and Doherty, Dan
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
BackgroundJoubert 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...
Alternative Titles
Full title
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5060087
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5060087
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103250
