Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. (Q43640848)

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29 February 2020

title

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes (English)

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Daniel Nilsson

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Outi Mäkitie

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Giedre Grigelioniene

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Wolfgang Hofmeister

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Alexandra Topa

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Kristina Lagerstedt Robinson

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Tobias Laurell

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Magnus Nordenskjöld

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Sarina G Kant

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author name string

Maria Pettersson

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Britt-Marie Anderlid

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Claudia A L Ruivenkamp

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Peter Gustavsson

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Helena Valta

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Stefan Geiberger

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Josephine Wincent

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Minna Pekkinen

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language of work or name

English

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publication date

7 November 2013

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Journal of Medical Genetics

29 February 2020

published in

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volume

51

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issue

1

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29 February 2020

page(s)

45-54

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PDE4 cAMP-specific phosphodiesterases

29 February 2020

cites work

1 reference

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Biochemistry and physiology of cyclic nucleotide phosphodiesterases: essential components in cyclic nucleotide signaling

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Exome sequencing identifies PDE4D mutations in acrodysostosis

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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

21 January 2018

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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

21 January 2018

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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

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Partial tetrasomy 14 associated with multiple malformations.

21 January 2018

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A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene

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21 January 2018

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Enhanced long-term potentiation and impaired learning in phosphodiesterase 4D-knockout (PDE4D) mice

21 January 2018

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Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmias

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p53 activation by knockdown technologies

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