Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Tuberin

Das TSC2-Gen kodiert eine Protein welches in der Regulation der Zellproliferation beteiligt ist. Mutationen führen zu verschiedenen Erkrankungen mit exzessivem Zellwachstum und benignen Tumoren. Folgende Erkrankungen können abgegrenzt werden: Tuberöse Sklerose 1, Lymphangioleiomyomatose und Isolierte fokale kortikale Dysplasie 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Somatische Lymphangioleiomyomatose
TSC2
Tuberöse Sklerose 2
IFNG
TSC2
Lymphangioleiomyomatose
Somatische Lymphangioleiomyomatose
TSC2
TSC1
TSC2
Isolierte fokale kortikale Dysplasie 2
MTOR
TSC1
TSC2

Referenzen:

1.

Sato T et al. (2002) Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

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2.

None (1954) Familial renal adenomas in Wistar rats; a preliminary report.

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3.

Zhang Y et al. (2003) Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins.

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4.

Stocker H et al. (2003) Rheb is an essential regulator of S6K in controlling cell growth in Drosophila.

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5.

Martin N et al. (2003) Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

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6.

Shumway SD et al. (2003) 14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin.

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7.

Momose S et al. (2002) Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system.

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8.

Karbowniczek M et al. (2003) Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism.

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9.

Potter CJ et al. (2002) Akt regulates growth by directly phosphorylating Tsc2.

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10.

Inoki K et al. (2002) TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.

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11.

Manning BD et al. (2002) Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway.

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12.

Langkau N et al. (2002) TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

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13.

Inoki K et al. (2003) TSC2 mediates cellular energy response to control cell growth and survival.

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14.

Hodges AK et al. (2001) Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.

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15.

Nellist M et al. (2001) TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.

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16.

Niida Y et al. (2001) Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

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17.

Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

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18.

Potter CJ et al. (2001) Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size.

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19.

Tapon N et al. (2001) The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation.

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20.

Kleymenova E et al. (2001) Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.

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21.

Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

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22.

Cheadle JP et al. (2000) Molecular genetic advances in tuberous sclerosis.

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23.

Carsillo T et al. (2000) Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

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24.

Way SW et al. (2009) Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse.

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25.

Ranek MJ et al. (2019) PKG1-modified TSC2 regulates mTORC1 activity to counter adverse cardiac stress.

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26.

Du H et al. (2018) A novel mouse model of hemangiopericytoma due to loss of Tsc2.

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27.

Lim JS et al. (2017) Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

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28.

Ercan E et al. (2017) Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex.

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29.

Zhang Y et al. (2014) Coordinated regulation of protein synthesis and degradation by mTORC1.

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30.

Ha JY et al. (2014) Tnfaip8 l1/Oxi-β binds to FBXW5, increasing autophagy through activation of TSC2 in a Parkinson's disease model.

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31.

Auerbach BD et al. (2011) Mutations causing syndromic autism define an axis of synaptic pathophysiology.

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32.

Cao J et al. (2010) Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice.

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33.

Pollizzi K et al. (2009) A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.

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34.

Bonnet CS et al. (2009) Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.

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35.

Le Caignec C et al. (2009) Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

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36.

Astrinidis A et al. (2000) Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.

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37.

Hartman TR et al. (2009) The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.

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38.

Choi YJ et al. (2008) Tuberous sclerosis complex proteins control axon formation.

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39.

Ehninger D et al. (2008) Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.

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40.

Hu J et al. (2008) WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.

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41.

Ozcan U et al. (2008) Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis.

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42.

Au KS et al. (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

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43.

Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

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44.

Crino PB et al. (2006) The tuberous sclerosis complex.

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45.

Inoki K et al. (2006) TSC2 integrates Wnt and energy signals via a coordinated phosphorylation by AMPK and GSK3 to regulate cell growth.

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46.

Nellist M et al. (2005) Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.

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47.

Brook-Carter PT et al. (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.

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48.

Sepp T et al. (1996) Loss of heterozygosity in tuberous sclerosis hamartomas.

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49.

Bjornsson J et al. (1996) Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.

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50.

Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

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51.

Wilson PJ et al. (1996) Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

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52.

Carbonara C et al. (1996) Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.

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53.

Henske EP et al. (1996) Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

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54.

Kumar A et al. (1995) Mutation analysis of the TSC2 gene in an African-American family.

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55.

Green AJ et al. (1996) Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation.

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56.

None (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16.

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57.

Green AJ et al. (1994) Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

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58.

Yeung RS et al. (1994) Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.

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59.

Sandford R et al. (1996) The tuberin (TSC2), autosomal dominant polycystic kidney disease (PKD1), and somatostatin type V receptor (SSTR5) genes form a synteny group in the Fugu genome.

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60.

Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex.

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61.

Castro M et al. (1995) Pulmonary tuberous sclerosis.

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62.

Kobayashi T et al. (1995) A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer.

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63.

Kobayashi T et al. (1995) cDNA structure, alternative splicing and exon-intron organization of the predisposing tuberous sclerosis (Tsc2) gene of the Eker rat model.

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64.

Wienecke R et al. (1995) Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity.

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65.

Pilz A et al. (1995) The mouse homologue of the human tuberous sclerosis 2 (TSC2) gene maps to chromosome 17, but does not fall within the tw18 or th20 deletions.

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66.

Kumar A et al. (1995) A de novo frame-shift mutation in the tuberin gene.

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67.

Xu L et al. (1995) Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.

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68.

None (1971) Mutation and cancer: statistical study of retinoblastoma.

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69.

Webb DW et al. (1991) Non-penetrance in tuberous sclerosis.

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70.

Imai K et al. (1998) Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes.

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71.

Yamashita Y et al. (2000) Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

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72.

Au KS et al. (1999) Complete inactivation of the TSC2 gene leads to formation of hamartomas.

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73.

Niida Y et al. (1999) Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

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74.

Urban T et al. (1999) Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).

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75.

Verhoef S et al. (1999) Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.

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76.

Jones AC et al. (1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

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77.

Zhang H et al. (1999) Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

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78.

Ito N et al. (1999) gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle.

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79.

Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

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80.

Rennebeck G et al. (1998) Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development.

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81.

Kandt RS et al. (1992) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

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82.

Beauchamp RL et al. (1998) Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

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83.

Smolarek TA et al. (1998) Evidence that lymphangiomyomatosis is caused by TSC2 mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis.

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84.

Au KS et al. (1998) Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

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85.

Sampson JR et al. (1997) Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

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86.

Yates JR et al. (1997) Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

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87.

Jones AC et al. (1997) Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

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88.

Maheshwar MM et al. (1997) The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

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89.

van Bakel I et al. (1997) Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

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90.

Xiao GH et al. (1997) The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.

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91.

Au KS et al. (1997) Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

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Update: 14. August 2020
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