A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza; Davide Cittaro; Elia Stupka; Donatella Biancolini; Maria Grazia Patricelli; Dario Bonanomi; Dejan Lazarević

doi:10.1371/journal.pone.0210097

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Open Access

Peer-reviewed

Research Article

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza ,

Contributed equally to this work with: Fabiola Valenza, Davide Cittaro

Roles Formal analysis, Investigation, Writing – original draft, Writing – review & editing

Affiliation Molecular Neurobiology Laboratory, Division of Neuroscience, IRCSS San Raffaele Scientific Institute, Milan, Italy
⨯
Davide Cittaro ,

Contributed equally to this work with: Fabiola Valenza, Davide Cittaro

Roles Conceptualization, Formal analysis, Investigation, Writing – original draft, Writing – review & editing

Affiliation Centre for Translational Genomics and Bioinformatics, IRCSS San Raffaele Scientific Institute, Milan, Italy

http://orcid.org/0000-0003-0384-3700

⨯
Elia Stupka,

Roles Conceptualization, Funding acquisition

Affiliations Centre for Translational Genomics and Bioinformatics, IRCSS San Raffaele Scientific Institute, Milan, Italy, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, United States of America
⨯
Donatella Biancolini,

Roles Formal analysis, Resources

Affiliation Centre for Translational Genomics and Bioinformatics, IRCSS San Raffaele Scientific Institute, Milan, Italy
⨯
Maria Grazia Patricelli,

Roles Conceptualization, Investigation, Writing – review & editing

Affiliation Molecular Biology and Citogenetics, IRCSS San Raffaele Scientific Institute, Milan, Italy
⨯
Dario Bonanomi,

Roles Conceptualization, Investigation, Supervision, Writing – original draft, Writing – review & editing

Affiliation Molecular Neurobiology Laboratory, Division of Neuroscience, IRCSS San Raffaele Scientific Institute, Milan, Italy
⨯
Dejan Lazarević

Roles Conceptualization, Investigation, Project administration, Supervision, Writing – original draft, Writing – review & editing

* E-mail: lazarevic.dejan@hsr.it

Affiliation Centre for Translational Genomics and Bioinformatics, IRCSS San Raffaele Scientific Institute, Milan, Italy

http://orcid.org/0000-0001-7485-4189

⨯

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza,
Davide Cittaro,
Elia Stupka,
Donatella Biancolini,
Maria Grazia Patricelli,
Dario Bonanomi,
Dejan Lazarević

Published: January 10, 2019
https://doi.org/10.1371/journal.pone.0210097

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Hedgehog signaling
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Frameshift mutation
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Transfection
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DNA transcription
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Pituitary gland
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Luciferase
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Gene sequencing
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Luciferase assay
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