Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. - Wikidata - wikimedia - TriplyDB

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

http://www.wikidata.org/entity/Q30440634

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Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing Wnt signaling networks in autism spectrum disorder and intellectual disability N-cadherin-based adherens junction regulates the maintenance, proliferation, and differentiation of neural progenitor cells during development Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.Paternal Aging Affects Behavior in Pax6 Mutant Mice: A Gene/Environment Interaction in Understanding Neurodevelopmental Disorders TAPO: A combined method for the identification of tandem repeats in protein structures.DWI and complex brain network analysis predicts vascular cognitive impairment in spontaneous hypertensive rats undergoing executive function tests.Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Olanzapine-induced methylation alters cadherin gene families and associated pathways implicated in psychosis.Identification of genes that promote or inhibit olfactory memory formation in Drosophila.A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report Cadherins and catenins in dendrite and synapse morphogenesis Actin Out: Regulation of the Synaptic Cytoskeleton.A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement Molecular subtyping and improved treatment of neurodevelopmental disease.Working-for-Food Behaviors: A Preclinical Study in Prader-Willi Mutant Mice.A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.Spatial Impairment and Memory in Genetic Disorders: Insights from Mouse Models.Deep Genetic Connection Between Cancer and Developmental Disorders.Automated multi-subject fiber clustering of mouse brain using dominant sets.Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome.Early postnatal vocalizations predict sociability and spatial memory in C57BL/6J mice: Individual differences in behavioral traits emerge early in development.Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.Human accelerated regions and other human-specific sequence variations in the context of evolution and their relevance for brain development.WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.β-Catenin in the Adult Visual Cortex Regulates NMDA-Receptor Function and Visual Responses.Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-iPSCs.Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.When Rett syndrome is due to genes other than MECP2.

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P2860

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

http://www.wikidata.org/entity/Q30440634

description

2014 nî lūn-bûn

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2014 թուականի Մարտին հրատարակուած գիտական յօդուած

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2014 թվականի մարտին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Dominant β-catenin mutations c ...... cognizable syndromic features.

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Dominant β-catenin mutations c ...... cognizable syndromic features.

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Dominant β-catenin mutations c ...... cognizable syndromic features.

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Dominant β-catenin mutations c ...... cognizable syndromic features.

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Dominant β-catenin mutations c ...... cognizable syndromic features.

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Dominant β-catenin mutations c ...... cognizable syndromic features.

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Journal of Clinical Investigation

P1476

Dominant β-catenin mutations c ...... cognizable syndromic features.

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Andrea Hardy

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Angelo Bifone

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Anneke T Vulto-van Silfhout

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Barbara Greco

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Chris Esapa

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Daniela Cantatore

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Federico Tinarelli

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Helen Hilton

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Ines Heise

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Luca Berdondini

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P2860

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

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

Crystal Structure of a Full-Length β-Catenin

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

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

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

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

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

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

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

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1468-1482

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10.1172/JCI70372

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4

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124

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Patrick M. Nolan

Liam J. McGuffin

Lisenka Vissers

Alessandro Gozzi

Andrea Contestabile

Laura Gasparini

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2014-03-10T00:00:00Z

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260682504

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24614104

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3973091

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