Variant: rs1553630472 

    present in Gene: CTNNB1
    present in Chromosome: 3
    Position on Chromosome: 41225721
    Alleles of this Variant: C/T

rs1553630472 in CTNNB1 gene and Dysmorphic features PMID 18334222 2008 Crystal structure of a full-length beta-catenin.

PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

PMID 22682243 2012 Wnt/β-catenin signaling and disease.

PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.

PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.

PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 15713948 2005 Wnt/beta-catenin pathway.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.

PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.