(Q34560912)

3 August 2017

Mutations in prickle orthologs cause seizures in flies, mice, and humans (English)

1 reference

3 August 2017

32

1 reference

3 August 2017

31

Anna-Elina Lehesjoki

1 reference

3 August 2017

Diane C Slusarski

33

0 references

John A Wemmie

object named as

John Wemmie

34

0 references

Hatem El-shanti

object named as

Hatem El-Shanti

27

0 references

Naoto Ueno

object named as

Naoto Ueno

35

0 references

author name string

Hirotaka Tao

1

1 reference

3 August 2017

J Robert Manak

2

1 reference

3 August 2017

Levi Sowers

3

1 reference

3 August 2017

Xue Mei

4

1 reference

3 August 2017

Hiroshi Kiyonari

5

1 reference

3 August 2017

Takaya Abe

6

1 reference

3 August 2017

Nader S Dahdaleh

7

1 reference

3 August 2017

Tian Yang

8

1 reference

3 August 2017

Shu Wu

9

1 reference

3 August 2017

Shan Chen

10

1 reference

3 August 2017

Mark H Fox

11

1 reference

3 August 2017

Christina Gurnett

12

1 reference

3 August 2017

Thomas Montine

13

1 reference

3 August 2017

Thomas Bird

14

1 reference

3 August 2017

Lisa G Shaffer

15

1 reference

3 August 2017

Jill A Rosenfeld

16

1 reference

3 August 2017

Juliann McConnell

17

1 reference

3 August 2017

Suneeta Madan-Khetarpal

18

1 reference

3 August 2017

Elizabeth Berry-Kravis

19

1 reference

3 August 2017

Hilary Griesbach

20

1 reference

3 August 2017

Russell P Saneto

21

1 reference

3 August 2017

Matthew P Scott

22

1 reference

3 August 2017

Dragana Antic

23

1 reference

3 August 2017

Jordan Reed

24

1 reference

3 August 2017

Riley Boland

25

1 reference

3 August 2017

Salleh N Ehaideb

26

1 reference

3 August 2017

Vinit B Mahajan

28

1 reference

3 August 2017

Polly J Ferguson

29

1 reference

3 August 2017

Jeffrey D Axelrod

30

1 reference

3 August 2017

Alexander G Bassuk

36

1 reference

3 August 2017

language of work or name

English

0 references

publication date

3 February 2011

1 reference

American Journal of Human Genetics

3 August 2017

1 reference

3 August 2017

88

1 reference

3 August 2017

138-149

1 reference

3 August 2017

2

1 reference

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Wnt11 patterns a myocardial electrical gradient through regulation of the L-type Ca(2+) channel

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Intraflagellar transport proteins are essential for cilia formation and for planar cell polarity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Planar cell polarity breaks bilateral symmetry by controlling ciliary positioning

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Planar cell polarity signaling in neural development.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Prickle1b mediates interpretation of migratory cues during zebrafish facial branchiomotor neuron migration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Cilia organize ependymal planar polarity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Multiple mechanisms mediate motor neuron migration in the zebrafish hindbrain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Genetics and development of neural tube defects.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Regulation of convergence and extension movements during vertebrate gastrulation by the Wnt/PCP pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Mouse prickle1, the homolog of a PCP gene, is essential for epiblast apical-basal polarity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Molecular dissection of Drosophila Prickle isoforms distinguishes their essential and overlapping roles in planar cell polarity.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Neuropathology in Drosophila mutants with increased seizure susceptibility

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

From bench to drug: human seizure modeling using Drosophila

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Asymmetric distribution of prickle-like 2 reveals an early underlying polarization of vestibular sensory epithelia in the inner ear

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Indirect Suppression Involving Behavioral Mutants with Altered Nerve Excitability in DROSOPHILA MELANOGASTER.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Effects of valproic acid derivatives on inositol trisphosphate depletion, teratogenicity, glycogen synthase kinase-3beta inhibition, and viral replication: a screening approach for new bipolar disorder drugs derived from the valproic acid core struc

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

ang is a novel gene expressed in early neuroectoderm, but its null mutant exhibits no obvious phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Mutations in EFHC1 cause juvenile myoclonic epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Expanded characterization of the social interaction abnormalities in mice lacking Dvl1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Back mutation in Drosophila melanogaster. I. X-ray induced back mutations at the yellow, scute and white loci.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Mutations in NHLRC1 cause progressive myoclonus epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

The balance between isoforms of the prickle LIM domain protein is critical for planar polarity in Drosophila imaginal discs

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Speed congenics: a classic technique in the fast lane (relatively speaking).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Stages of embryonic development of the zebrafish

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

A novel ES cell line, TT2, with high germline-differentiating potency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Role of the teashirt gene in Drosophila midgut morphogenesis: secreted proteins mediate the action of homeotic genes.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

From the gene to behavior

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Progressive myoclonus epilepsy. A clinical and histopathological study.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

The planar polarity protein Scribble1 is essential for neuronal plasticity and brain function.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Seizures, ataxia, and neuronal loss in cystatin B heterozygous mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Polarized transport of Frizzled along the planar microtubule arrays in Drosophila wing epithelium.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Anticonvulsant valproate reduces seizure-susceptibility in mutant Drosophila

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3035715

CACNA1A and P/Q-type calcium channels in epilepsy

27 October 2018

1 reference

12 December 2020

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

1 reference

12 December 2020

A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Valproic acid selectively reduces the low-threshold (T) calcium current in rat nodose neurons

1 reference

12 December 2020

10.1016/J.AJHG.2010.12.012

Identifiers

DOI

1 reference

3 August 2017

1 reference

3 August 2017

1 reference