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

Hamartin

Das TSC1-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
Forschung 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:

Isolierte fokale kortikale Dysplasie 2
MTOR
TSC1
TSC2
Lymphangioleiomyomatose
Somatische Lymphangioleiomyomatose
TSC2
TSC1
TSC2
Tuberöse Sklerose 1
TSC1

Referenzen:

1.

Bénit P et al. (1999) Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.

external link
2.

Uhlmann EJ et al. (2002) Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

external link
3.

Kwiatkowski DJ et al. (2002) A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.

external link
4.

Kobayashi T et al. (2001) A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice.

external link
5.

Benvenuto G et al. (2000) The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination.

external link
6.

Cheadle JP et al. (2000) Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus.

external link
7.

Miloloza A et al. (2000) The TSC1 gene product, hamartin, negatively regulates cell proliferation.

external link
8.

Fukuhara S et al. (2000) A new twist for the tumour suppressor hamartin.

external link
9.

Lamb RF et al. (2000) The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho.

external link
10.

Becker AJ et al. (2002) Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

external link
11.

Mayer K et al. (1999) Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.

external link
12.

Smith M et al. (1999) Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas.

external link
13.

van Slegtenhorst M et al. (1999) Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

external link
14.

Kwiatkowska J et al. (1999) Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.

external link
15.

Kwiatkowska J et al. (1998) Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

external link
16.

Ali JB et al. (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

external link
17.

Young JM et al. (1998) A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.

external link
18.

Goorden SM et al. (2007) Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures.

external link
19.

Abs E et al. (2013) TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.

external link
20.

Iyer G et al. (2012) Genome sequencing identifies a basis for everolimus sensitivity.

external link
21.

Tsai PT et al. (2012) Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice.

external link
22.

Adhikari D et al. (2010) Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial follicles.

external link
23.

Zhou J et al. (2009) Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1.

external link
24.

Gumbinger C et al. (2009) Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.

external link
25.

Nellist M et al. (2009) Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

external link
26.

Zeng LH et al. (2008) Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

external link
27.

van Slegtenhorst M et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

external link
28.

Astrinidis A et al. (2006) Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner.

external link
29.

Rendtorff ND et al. (2005) Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

external link
30.

Wilson C et al. (2005) A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.

external link
31.

Sancak O et al. (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.

external link
32.

Meikle L et al. (2005) A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes.

external link
33.

Jeganathan D et al. (2002) Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.

external link
34.

Uhlmann EJ et al. (2002) Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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.

external link
42.

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

external link
43.

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.

external link
44.

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.

external link
45.

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

external link
46.

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

external link
47.

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

external link
48.

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

external link
49.

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

external link
50.

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

external link
51.

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

external link
52.

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

external link
53.

van Slegtenhorst M et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

external link
54.

Povey S et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

external link
55.

Green AJ et al. (1994) The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.

external link
56.

Carbonara C et al. (1994) 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.

external link
57.

Nagase T et al. (1996) Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

external link
58.

DiBella LM et al. (2009) Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway.

external link
59.

Park KK et al. (2008) Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway.

external link
60.

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

external link
61.

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

external link
62.

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

external link
63.

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

external link
64.

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

external link
65.

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

external link
66.

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

external link
67.

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

external link
68.

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

external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz