Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Catenin beta 1

Das CTNNB1-Gen kodiert eine beta1-Catenin, welches für die Signaltransduktion und die Stabilität epithelialer Zellstrukturen von Bedeutung ist. Somatische Mutationen dieses Gens werden bei verschiedenen Tumoren und beim Nebennierenadenom gesehen, während Keimbahnmutationen zu autosomal dominanter mentaler Retardierung 19 führen.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5

Referenzen:

1.

Kléber M et. al. (2005) Neural crest stem cell maintenance by combinatorial Wnt and BMP signaling.

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2.

McCrea PD et. al. (1991) A homolog of the armadillo protein in Drosophila (plakoglobin) associated with E-cadherin.

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3.

Guénet JL et. al. (1995) The genes coding for alpha and beta catenin (Catna1 and Catnb) and plakoglobin (Jup) map to mouse chromosomes 18, 9, and 11, respectively.

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4.

van Hengel J et. al. (1995) Assignment of the human beta-catenin gene (CTNNB1) to 3p22-->p21.3 by fluorescence in situ hybridization.

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5.

Bailey A et. al. (1995) Yeast artificial chromosome cloning of the beta-catenin locus on human chromosome 3p21-22.

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6.

Kraus C et. al. (1994) Localization of the human beta-catenin gene (CTNNB1) to 3p21: a region implicated in tumor development.

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7.

None (1993) Cancer, catenins, and cuticle pattern: a complex connection.

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8.

Trent JM et. al. (1995) The gene for the APC-binding protein beta-catenin (CTNNB1) maps to chromosome 3p22, a region frequently altered in human malignancies.

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9.

Nollet F et. al. (1996) Genomic organization of the human beta-catenin gene (CTNNB1).

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10.

Korinek V et. al. (1997) Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma.

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11.

Morin PJ et. al. (1997) Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC.

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12.

Rubinfeld B et. al. (1997) Stabilization of beta-catenin by genetic defects in melanoma cell lines.

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13.

Ilyas M et. al. (1997) Beta-catenin mutations in cell lines established from human colorectal cancers.

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14.

Fearon ER et al. (1997) Human cancer syndromes: clues to the origin and nature of cancer.

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15.

Iwao K et. al. (1998) Activation of the beta-catenin gene by interstitial deletions involving exon 3 in primary colorectal carcinomas without adenomatous polyposis coli mutations.

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16.

Gat U et. al. (1998) De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin.

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17.

Koch A et. al. (1999) Childhood hepatoblastomas frequently carry a mutated degradation targeting box of the beta-catenin gene.

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18.

Chan EF et. al. (1999) A common human skin tumour is caused by activating mutations in beta-catenin.

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19.

Tetsu O et. al. (1999) Beta-catenin regulates expression of cyclin D1 in colon carcinoma cells.

[^]
20.

Eastman Q et. al. (1999) Regulation of LEF-1/TCF transcription factors by Wnt and other signals.

[^]
21.

Sagae S et. al. (1999) Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas.

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22.

Bläker H et. al. (1999) Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma.

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23.

Wright K et. al. (1999) beta-catenin mutation and expression analysis in ovarian cancer: exon 3 mutations and nuclear translocation in 16% of endometrioid tumours.

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24.

Legoix P et. al. (1999) Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity.

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25.

Roose J et. al. (1999) Synergy between tumor suppressor APC and the beta-catenin-Tcf4 target Tcf1.

[^]
26.

Harada N et. al. (1999) Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene.

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27.

Shitoh K et. al. (1999) A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene.

[^]
28.

Huang H et. al. (2000) APC mutations in sporadic medulloblastomas.

[^]
29.

Lin SY et. al. (2000) Beta-catenin, a novel prognostic marker for breast cancer: its roles in cyclin D1 expression and cancer progression.

[^]
30.

Pokutta S et. al. (2000) Structure of the dimerization and beta-catenin-binding region of alpha-catenin.

[^]
31.

Kawasaki Y et. al. (2000) Asef, a link between the tumor suppressor APC and G-protein signaling.

[^]
32.

Neish AS et. al. (2000) Prokaryotic regulation of epithelial responses by inhibition of IkappaB-alpha ubiquitination.

[^]
33.

Huelsken J et. al. (2001) beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin.

[^]
34.

Shigemitsu K et. al. (2001) Genetic alteration of the beta-catenin gene (CTNNB1) in human lung cancer and malignant mesothelioma and identification of a new 3p21.3 homozygous deletion.

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35.

Saadi-Kheddouci S et. al. (2001) Early development of polycystic kidney disease in transgenic mice expressing an activated mutant of the beta-catenin gene.

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36.

Moreno-Bueno G et. al. (2001) beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.

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37.

Wheeler JM et. al. (2002) An insight into the genetic pathway of adenocarcinoma of the small intestine.

[^]
38.

Van Aken EH et. al. (2002) Structure and function of the N-cadherin/catenin complex in retinoblastoma.

[^]
39.

Rodova M et. al. (2002) The polycystic kidney disease-1 promoter is a target of the beta-catenin/T-cell factor pathway.

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40.

Chan TA et. al. (2002) Targeted inactivation of CTNNB1 reveals unexpected effects of beta-catenin mutation.

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41.

Murase S et. al. (2002) Depolarization drives beta-Catenin into neuronal spines promoting changes in synaptic structure and function.

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42.

Chenn A et. al. (2002) Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.

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43.

Lickert H et. al. (2002) Formation of multiple hearts in mice following deletion of beta-catenin in the embryonic endoderm.

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44.

Widlund HR et. al. (2002) Beta-catenin-induced melanoma growth requires the downstream target Microphthalmia-associated transcription factor.

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45.

Kang DE et. al. (2002) Presenilin couples the paired phosphorylation of beta-catenin independent of axin: implications for beta-catenin activation in tumorigenesis.

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46.

Graham TA et. al. (2002) The crystal structure of the beta-catenin/ICAT complex reveals the inhibitory mechanism of ICAT.

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47.

Daniels DL et. al. (2002) ICAT inhibits beta-catenin binding to Tcf/Lef-family transcription factors and the general coactivator p300 using independent structural modules.

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48.

van de Wetering M et. al. (2002) The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cells.

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49.

Batlle E et. al. (2002) Beta-catenin and TCF mediate cell positioning in the intestinal epithelium by controlling the expression of EphB/ephrinB.

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50.

Jamora C et. al. (2003) Links between signal transduction, transcription and adhesion in epithelial bud development.

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51.

Reya T et. al. (2003) A role for Wnt signalling in self-renewal of haematopoietic stem cells.

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52.

Soshnikova N et. al. (2003) Genetic interaction between Wnt/beta-catenin and BMP receptor signaling during formation of the AER and the dorsal-ventral axis in the limb.

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53.

Yu X et. al. (2003) Beta-catenin is critical for dendritic morphogenesis.

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54.

Xu Y et. al. (2003) Deletion of beta-catenin impairs T cell development.

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55.

Wikramanayake AH et. al. (2003) An ancient role for nuclear beta-catenin in the evolution of axial polarity and germ layer segregation.

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56.

Lee HY et. al. (2004) Instructive role of Wnt/beta-catenin in sensory fate specification in neural crest stem cells.

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57.

Kaplan DD et. al. (2004) Identification of a role for beta-catenin in the establishment of a bipolar mitotic spindle.

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58.

Guo X et. al. (2004) Wnt/beta-catenin signaling is sufficient and necessary for synovial joint formation.

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59.

Brembeck FH et. al. (2004) Essential role of BCL9-2 in the switch between beta-catenin's adhesive and transcriptional functions.

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60.

Tian Q et. al. (2004) Proteomic analysis identifies that 14-3-3zeta interacts with beta-catenin and facilitates its activation by Akt.

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61.

Kim JH et. al. (2005) Transcriptional regulation of a metastasis suppressor gene by Tip60 and beta-catenin complexes.

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62.

Ghiselli G et. al. (2005) The human D-glucuronyl C5-epimerase gene is transcriptionally activated through the beta-catenin-TCF4 pathway.

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63.

Hill TP et. al. (2005) Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

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64.

Day TF et. al. (2005) Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

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65.

Glass DA et. al. (2005) Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation.

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66.

Essers MA et. al. (2005) Functional interaction between beta-catenin and FOXO in oxidative stress signaling.

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67.

Franco AT et. al. (2005) Activation of beta-catenin by carcinogenic Helicobacter pylori.

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68.

Shah S et. al. (2006) The molecular basis of vitamin D receptor and beta-catenin crossregulation.

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69.

Noubissi FK et. al. (2006) CRD-BP mediates stabilization of betaTrCP1 and c-myc mRNA in response to beta-catenin signalling.

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70.

Parakh TN et. al. (2006) Follicle-stimulating hormone/cAMP regulation of aromatase gene expression requires beta-catenin.

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71.

Järvinen E et. al. (2006) Continuous tooth generation in mouse is induced by activated epithelial Wnt/beta-catenin signaling.

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72.

Liu F et. al. (2007) Wnt-beta-catenin signaling initiates taste papilla development.

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73.

Zamora M et. al. (2007) Epicardium-derived progenitor cells require beta-catenin for coronary artery formation.

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74.

Moore AC et. al. (2008) Myeloid translocation gene family members associate with T-cell factors (TCFs) and influence TCF-dependent transcription.

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75.

Petersen CP et. al. (2008) Smed-betacatenin-1 is required for anteroposterior blastema polarity in planarian regeneration.

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76.

Gurley KA et. al. (2008) Beta-catenin defines head versus tail identity during planarian regeneration and homeostasis.

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77.

Bahmanyar S et. al. (2008) beta-Catenin is a Nek2 substrate involved in centrosome separation.

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78.

Tomizuka K et. al. (2008) R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.

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79.

Chassot AA et. al. (2008) Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.

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80.

Malanchi I et. al. (2008) Cutaneous cancer stem cell maintenance is dependent on beta-catenin signalling.

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81.

Morris EJ et. al. (2008) E2F1 represses beta-catenin transcription and is antagonized by both pRB and CDK8.

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82.

Firestein R et. al. (2008) CDK8 is a colorectal cancer oncogene that regulates beta-catenin activity.

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83.

Kohler EM et. al. (2009) Beta-catenin degradation mediated by the CID domain of APC provides a model for the selection of APC mutations in colorectal, desmoid and duodenal tumours.

[^]
84.

Liu CF et. al. (2009) Sex-specific roles of beta-catenin in mouse gonadal development.

[^]
85.

Gattinoni L et. al. (2009) Wnt signaling arrests effector T cell differentiation and generates CD8+ memory stem cells.

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86.

Huang SM et. al. (2009) Tankyrase inhibition stabilizes axin and antagonizes Wnt signalling.

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87.

Zhao DM et. al. (2010) Constitutive activation of Wnt signaling favors generation of memory CD8 T cells.

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88.

Berthon A et. al. (2010) Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.

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89.

Driessens G et. al. (2010) Beta-catenin does not regulate memory T cell phenotype.

[^]
90.

Jeannet G et. al. (2010) Essential role of the Wnt pathway effector Tcf-1 for the establishment of functional CD8 T cell memory.

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91.

Manicassamy S et. al. (2010) Activation of beta-catenin in dendritic cells regulates immunity versus tolerance in the intestine.

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92.

None (2011) Comment on "Activation of β-catenin in dendritic cells regulates immunity versus tolerance in the intestine".

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93.

Yang W et. al. (2011) Nuclear PKM2 regulates β-catenin transactivation upon EGFR activation.

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94.

Hoffmeyer K et. al. (2012) Wnt/β-catenin signaling regulates telomerase in stem cells and cancer cells.

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95.

de Ligt J et. al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability.

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96.

Takeo M et. al. (2013) Wnt activation in nail epithelium couples nail growth to digit regeneration.

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97.

Beronja S et. al. (2013) RNAi screens in mice identify physiological regulators of oncogenic growth.

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98.

Kode A et. al. (2014) Leukaemogenesis induced by an activating β-catenin mutation in osteoblasts.

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99.

Tucci V et. al. (2014) Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

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100.

Deschene ER et. al. (2014) β-Catenin activation regulates tissue growth non-cell autonomously in the hair stem cell niche.

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101.

Dias C et. al. (2014) β-catenin mediates stress resilience through Dicer1/microRNA regulation.

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102.

Benham-Pyle BW et. al. (2015) Cell adhesion. Mechanical strain induces E-cadherin-dependent Yap1 and β-catenin activation to drive cell cycle entry.

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103.

Teo AE et. al. (2015) Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations.

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