A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome (Q24310789)

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25 December 2019

title

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome (English)

1 reference

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RE1-silencing transcription factor

25 December 2019

main subject

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GOA release 2020-03-11

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25 December 2019

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Pedro Gonzalez-Alegre

object named as

Pedro Gonzalez-Alegre

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Alexander G Bassuk

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language of work or name

English

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publication date

30 October 2008

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American Journal of Human Genetics

25 December 2019

published in

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volume

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issue

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page(s)

572-581

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Prickle-1 negatively regulates Wnt/beta-catenin pathway by promoting Dishevelled ubiquitination/degradation in liver cancer

25 December 2019

cites work

1 reference

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19 March 2017

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REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor

19 March 2017

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Expression of planar cell polarity genes during development of the mouse CNS

19 March 2017

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Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

19 March 2017

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Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning

19 March 2017

1 reference

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Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle

19 March 2017

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19 March 2017

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Evidence that the peptidylprolyl isomerase domain of the hsp90-binding immunophilin FKBP52 is involved in both dynein interaction and glucocorticoid receptor movement to the nucleus

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Prickle mediates feedback amplification to generate asymmetric planar cell polarity signaling

19 March 2017

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Neuronal expression of zinc finger transcription factor REST/NRSF/XBR gene

19 March 2017

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A second canon. Functions and mechanisms of beta-catenin-independent Wnt signaling

19 March 2017

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The mood stabilizer valproate inhibits both inositol- and diacylglycerol-signaling pathways in Caenorhabditis elegans

7 April 2017

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Mouse Prickle1 and Prickle2 are expressed in postmitotic neurons and promote neurite outgrowth

27 September 2017

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27 September 2017

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Mode of action: inhibition of histone deacetylase, altering WNT-dependent gene expression, and regulation of beta-catenin--developmental effects of valproic acid

27 September 2017

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Planar cell polarity signalling couples cell division and morphogenesis during neurulation.

27 September 2017

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WNTs in the vertebrate nervous system: from patterning to neuronal connectivity

27 September 2017

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Prickle 1 regulates cell movements during gastrulation and neuronal migration in zebrafish

27 September 2017

1 reference

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Zebrafish prickle, a modulator of noncanonical Wnt/Fz signaling, regulates gastrulation movements.

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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29 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/18976727

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12 December 2020

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RE-1 silencer of transcription/neural restrictive silencer factor modulates ectodermal patterning during Xenopus development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18976727

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Effects of Central Nervous System-Active Valproic Acid Constitutional Isomers, Cyclopropyl Analogs, and Amide Derivatives on Neuronal Growth Cone Behavior

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18976727

inferred from PubMed ID database lookup

12 December 2020

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Identifiers

DOI

10.1016/J.AJHG.2008.10.003

2 references

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25 December 2019

1 reference

2 references

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25 December 2019

PubMed publication ID

18976727

2 references

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