Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features (Q30440634)

21 August 2017

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features (English)

1 reference

disability affecting intellectual abilities

21 August 2017

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Valter Tucci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Silvia Maggi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Liam J. McGuffin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Lisenka Vissers

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Zafar Iqbal

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marta Orlando

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alessandro Maccione

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Glenda Lassi

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Andrea Contestabile

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Thierry Nieus

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Andrea Raimondi

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Laura Gasparini

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Alessandro Gozzi

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

32

Luca Berdondini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

2

Tjitske Kleefstra

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marjolein H Willemsen

6

object named as

Marjolein H Willemsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

Anneke T Vulto-van Silfhout

9 June 2020

19

object named as

Anneke T Vulto-van Silfhout

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Andrea Hardy

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ines Heise

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Helen Hilton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Chris Esapa

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Michelle Simon

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maria-Teresa Buenavista

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Lucie Vizor

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Luca Dodero

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sotirios Tsaftaris

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rosario Romero

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Willy N Nillesen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marlies J Kempers

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pasqualina Farisello

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Federico Tinarelli

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Barbara Greco

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Daniela Cantatore

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Angelo Bifone

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sara Wells

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

10 March 2014

1 reference

Journal of Clinical Investigation

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

124

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

1468-1482

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

9 June 2020

PyMOL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=PMC3973091

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3973091/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Loss of Gnas imprinting differentially affects REM/NREM sleep and cognition in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Wnt signaling from membrane to nucleus: β-catenin caught in a loop.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Molecular mechanisms of fear learning and memory.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

The IntFOLD server: an integrated web resource for protein fold recognition, 3D model quality assessment, intrinsic disorder prediction, domain prediction and ligand binding site prediction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Stringent requirement of a proper level of canonical WNT signalling activity for head formation in mouse embryo

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Risk assessment in man and mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

A novel algorithm for precise identification of spikes in extracellularly recorded neuronal signals.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Beta-catenin is required for memory consolidation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Ultrasonic vocalizations: a tool for behavioural phenotyping of mouse models of neurodevelopmental disorders.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of beta-catenin in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Large-scale, high-resolution data acquisition system for extracellular recording of electrophysiological activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Crystal Structure of a Full-Length β-Catenin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Mechanistic insights from structural studies of beta-catenin and its binding partners

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Symmetric diffeomorphic image registration with cross-correlation: evaluating automated labeling of elderly and neurodegenerative brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

The regulation of cadherin-mediated adhesion by tyrosine phosphorylation/dephosphorylation of beta-catenin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Cadherins and catenins in synapse development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Regulation of cerebral cortical size by control of cell cycle exit in neural precursors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Depolarization drives beta-Catenin into neuronal spines promoting changes in synaptic structure and function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

The molecular biology of memory storage: a dialogue between genes and synapses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

The structure of the beta-catenin/E-cadherin complex and the molecular basis of diverse ligand recognition by beta-catenin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

PTP1B regulates neurite extension mediated by cell-cell and cell-matrix adhesion molecules

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Requirement for beta-catenin in anterior-posterior axis formation in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Developments of a water-maze procedure for studying spatial learning in the rat

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Diagnostic exome sequencing in persons with severe intellectual disability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Improvement of 3D protein models using multiple templates guided by single-template model quality assessment

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

β-catenin tyrosine 654 phosphorylation increases Wnt signalling and intestinal tumorigenesis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Active pixel sensor array for high spatio-temporal resolution electrophysiological recordings from single cell to large scale neuronal networks

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

A comparison of physiological and behavioural parameters in C57BL/6J mice undergoing food or water restriction regimes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Beta-catenin function is required for cerebellar morphogenesis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Increased seizure susceptibility and cortical malformation in beta-catenin mutant mice

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Sources of variability and systematic error in mouse timing behavior.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Role of beta-catenin in the developing cortical and hippocampal neuroepithelium

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

β-catenin is critical for dendritic morphogenesis

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Regulation of beta-catenin structure and activity by tyrosine phosphorylation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Phosphorylation and free pool of beta-catenin are regulated by tyrosine kinases and tyrosine phosphatases during epithelial cell migration.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973091

Both Schwann cell and axonal defects cause motor peripheral neuropathy in Ebf2-/- mice

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24614104

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI70372

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

24614104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24614104%20AND%20SRC:MED&resulttype=core&format=json