Hamartin

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

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.

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.

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.

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.

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

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

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

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

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.

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.

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

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.

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

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

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

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.

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

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

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

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

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

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

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

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

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

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

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

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.

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

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.

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

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

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

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

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

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

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

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

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

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.

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

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.

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.

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

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

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

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

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

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

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

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

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

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

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

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.

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.

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

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

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

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

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

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

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

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

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

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

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