Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

scientific article (publication date: 8 August 1997)

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1126/SCIENCE.277.5327.805
P3181OpenCitations bibliographic resource ID2809528
P698PubMed publication ID9242607

P50authorDick LindhoutQ30500447
Sergiusz JóźwiakQ55719494
Rosemary EkongQ91679560
P2093author name stringM Nellist
J P Cheadle
J R Sampson
D J Kwiatkowski
J Nahmias
J R Yates
M Fox
J Wolfe
J Young
A C Jones
M Tachataki
R G Snell
E P Henske
J Kwiatkowska
J Osborne
M P Short
S Povey
P Richardson
C Munro
S Verhoef
S Ward
A J Green
S Jeremiah
B Janssen
C Hermans
T L Hawkins
A van den Ouweland
T Sepp
D Halley
K Woodward
M van Slegtenhorst
M P Reeve
D Ravine
J H Haines
J B Ali
F Wilmer
M Burley
R de Hoogt
P433issue5327
P407language of work or nameEnglishQ1860
P921main subjecttuberous sclerosisQ1362721
P304page(s)805-8
P577publication date1997-08-08
P1433published inScienceQ192864
P1476titleIdentification of the tuberous sclerosis gene TSC1 on chromosome 9q34
P478volume277

Reverse relations

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Q34651253Lipid posttranslational modifications. Farnesyl transferase inhibitors
Q35788341Loss of Heterozygosity on Chromosomes 9q and 16p in Atypical Adenomatous Hyperplasia Concomitant with Adenocarcinoma of the Lung
Q37128350Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
Q41485973Loss of Tuberous Sclerosis Complex 2 (TSC2) as a Predictive Biomarker of Response to mTOR Inhibitor Treatment in Patients with Hepatocellular Carcinoma
Q44365146Loss of expression of tuberin and hamartin in tuberous sclerosis complex-associated but not in sporadic angiofibromas
Q33603083Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development
Q77072086Loss of heterozygosity in the tuberous sclerosis gene associated regions in adenocarcinoma of the lung accompanied by multiple atypical adenomatous hyperplasia
Q43043692Loss of heterozygosity on tuberous sclerosis complex genes in multifocal micronodular pneumocyte hyperplasia
Q34987845Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration
Q35764929Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors
Q28568651Loss of tuberin, the tuberous-sclerosis-complex-2 gene product is associated with angiogenesis
Q28507521Loss of tuberous sclerosis complex 1 (Tsc1) expression results in increased Rheb/S6K pathway signaling important for astrocyte cell size regulation
Q57793715Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder
Q34536450Lymphangioleiomyomatosis (LAM): molecular insights lead to targeted therapies
Q36357766Lymphangioleiomyomatosis - a wolf in sheep's clothing.
Q42595723Lymphangioleiomyomatosis: A Monogenic Model of Malignancy
Q38484497Lymphangioleiomyomatosis: New Treatment Perspectives
Q36067383Lymphangioleiomyomatosis: what do we know and what are we looking for?
Q34560457Lymphatics in lymphangioleiomyomatosis and idiopathic pulmonary fibrosis
Q100750562MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61
Q41672627MR imaging of tuberous sclerosis in neonates and young infants.
Q56232687Malformations of cortical development and epilepsy
Q33993991Malignant mesenteric perivascular epithelioid cell neoplasm presenting as an intra-abdominal fistula in a 49-year-old female.
Q36193682Malignant perivascular epithelioid cell neoplasm of the mediastinum and the lung: one case report
Q37432305Mammalian Target of Rapamycin (mTOR) Pathways in Neurological Diseases
Q43814142Management of CNS-related Disease Manifestations in Patients With Tuberous Sclerosis Complex
Q46697537Management of epilepsy in tuberous sclerosis complex.
Q37758485Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective.
Q35962461Managing epilepsy in tuberous sclerosis complex
Q39048621Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic
Q30746587Mechanism-based treatment in tuberous sclerosis complex
Q36922578Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation
Q64075806Mechanistic Target of Rapamycin Pathway in Epileptic Disorders
Q35777641Merlin and the ERM proteins in Schwann cells, neurons and growth cones
Q41365464Mesenchymal Tumorigenesis Driven by TSC2 Haploinsufficiency Requires HMGA2 and Is Independent of mTOR Pathway Activation.
Q28472728Metabolic regulation of neuronal plasticity by the energy sensor AMPK
Q52326182Metabolomic studies identify changes in transmethylation and polyamine metabolism in a brain-specific mouse model of tuberous sclerosis complex
Q34270994Metastasis of benign tumor cells in tuberous sclerosis complex
Q52145667Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor
Q96607410Metformin effectively treats Tsc1 deletion-caused kidney pathology by upregulating AMPK phosphorylation
Q34325886Missense mutations to the TSC1 gene cause tuberous sclerosis complex
Q47851622Modelling Autistic Features in Mice Using Quantitative Genetic Approaches
Q48023007Molecular Basis of Pediatric Brain Tumors
Q43978101Molecular Diagnosis of Genodermatoses
Q28251056Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis
Q55981792Molecular Genetics of Gastroenteropancreatic Neuroendocrine Tumours
Q42368959Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Q33257900Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
Q30433431Molecular genesis of non-muscle-invasive urothelial carcinoma (NMIUC)
Q34552842Molecular genetic basis of tuberous sclerosis complex: from bench to bedside
Q89185661Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes
Q37183447Molecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities
Q35469289Molecular mechanism of size control in development and human diseases
Q35089301Molecular mechanisms of renal development
Q36330644Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans
Q35962478Molecular pathogenesis of tuber formation in tuberous sclerosis complex
Q36716971Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links.
Q35833449Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
Q35962483Mouse models of tuberous sclerosis complex.
Q28216314Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin
Q59341135Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in -Suppressed Brain
Q35563126Multiple roles of the tuberous sclerosis complex genes
Q38553435Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
Q45185112Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Q77827590Mutation of the 9q34 gene TSC1 in sporadic bladder cancer
Q73111324Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects
Q51005551Mutational analyses of the TSC1 and TSC2 genes in cases of tuberous sclerosis complex in Chinese Han children
Q24535643Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
Q47101296Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Q30663474Mutational analysis of TSC1 and TSC2 genes in gangliogliomas
Q96576947Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
Q43862708Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported
Q90496167Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy
Q81592302Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
Q48080915Mutational and expression analysis of CDK1, cyclinA2 and cyclinB1 in epilepsy-associated glioneuronal lesions
Q34088030Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis
Q24681838Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
Q33681626Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Q50557999Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
Q34508924Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
Q82423814Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome
Q37619835Neoadjuvant sirolimus for a large hepatic perivascular epithelioid cell tumor (PEComa).
Q26850307Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments
Q28217299Neurocutaneous disorders
Q30680048Neurologic manifestations of tuberous sclerosis complex
Q38525506Neurological and neuropsychiatric aspects of tuberous sclerosis complex
Q51901866Neurological aspects of tuberous sclerosis in relation to MRI/MR spectroscopy findings in children with epilepsy
Q52601345Neuronal lysosomes
Q34432732Neuropathology of tuberous sclerosis
Q35783807Neuropsychiatric problems in tuberous sclerosis complex
Q38983786New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex
Q91880863New frontiers in modeling tuberous sclerosis with human stem cell-derived neurons and brain organoids
Q38137883New innovations: therapeutic opportunities for intellectual disabilities
Q36084916New insights into the tumor suppression function of P27(kip1)
Q74033062Non-penetrance in tuberous sclerosis
Q36162600Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases
Q28728348Non‐canonical functions of the tuberous sclerosis complex‐Rheb signalling axis
Q41667277Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas
Q48603723Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
Q86884762Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis
Q74590245Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst
Q48459208Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis
Q39745229Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications
Q34437857Nuclear PRAS40 couples the Akt/mTORC1 signaling axis to the RPL11-HDM2-p53 nucleolar stress response pathway.
Q48273239Numerous Cortical Tubers and Rhabdomyomas in a Case of Sudden Unexpected Infant Death
Q42857913Nutrients and growth factors in mTORC1 activation
Q35368205Our changing view of the genomic landscape of cancer
Q52984039Outcomes of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: A single institution experience in Japan
Q36100039PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex
Q36344290PEComa: what do we know so far?
Q24651969PEComas: the past, the present and the future
Q37896509PI3 Kinase regulation of neural regeneration and muscle hypertrophy after spinal cord injury
Q30300538PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
Q37032524PI3K/mTORC1 activation in hamartoma syndromes: therapeutic prospects
Q37500523PRAS40: target or modulator of mTORC1 signalling and insulin action?
Q28209980Pam and Its Ortholog Highwire Interact with and May Negatively Regulate the TSC1·TSC2 Complex
Q77752534Parallels between tuberous sclerosis complex and neurofibromatosis 1: common threads in the same tapestry
Q45205869Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Q87866079Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis
Q27010355Pediatric epileptology
Q33847771Pediatric low-grade gliomas: how modern biology reshapes the clinical field
Q50310468Pervasive Developmental Disorder and Obstetric Complications in Children and Adolescents with Tuberous Sclerosis
Q34535040Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis
Q33554443Phosphatidylinositol 3-kinase (PI3K) pathway activation in bladder cancer
Q28217173Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin
Q38452625Pivotal role of augmented αB-crystallin in tumor development induced by deficient TSC1/2 complex
Q42375761Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex.
Q36359660Positive and negative regulation of TSC2 activity and its effects on downstream effectors of the mTOR pathway
Q37051667Possible mechanisms of disease development in tuberous sclerosis
Q47565388Predictors of Drug-Resistant Epilepsy in Tuberous Sclerosis Complex
Q52654761Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy
Q60924052Prenatal Neuropathologies in Autism Spectrum Disorder and Intellectual Disability: The Gestation of a Comprehensive Zebrafish Model
Q52175633Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation
Q48444747Prenatal magnetic resonance imaging, ultrasound imaging findings and genetic analysis of concomitant rhabdomyomas and cerebral tuberous sclerosis
Q45186933Prevalence of tuberous sclerosis estimated by capture-recapture analysis.
Q30361244Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases.
Q58775480Primary angiosarcoma arising in an angiomyolipoma of the kidney: case report and literature review
Q35203610Protein interactome reveals converging molecular pathways among autism disorders
Q56241321Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations
Q46582182Proton spectroscopic findings in children with epilepsy owing to tuberous sclerosis complex
Q46950766Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex
Q40303846Psychopathology in tuberous sclerosis: an overview and findings in a population-based sample of adults with tuberous sclerosis.
Q24622222Pushing the envelope in the mTOR pathway: the second generation of inhibitors
Q37876523Putative roles of cilia in polycystic kidney disease
Q35575289Rab proteins and endocytic trafficking: potential targets for therapeutic intervention
Q47980226Radiobiological Characterization of Tuberous Sclerosis: a Delay in the Nucleo-Shuttling of ATM May Be Responsible for Radiosensitivity.
Q24194140Rapamycin and its analogues (rapalogs) for tuberous sclerosis complex
Q26471128Rapamycin and rapalogs for tuberous sclerosis complex
Q42871820Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex
Q34024856Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders
Q86910950Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86
Q30531079Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex
Q43099344Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia
Q47115233Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review
Q33430534Rapamycin weekly maintenance dosing and the potential efficacy of combination sorafenib plus rapamycin but not atorvastatin or doxycycline in tuberous sclerosis preclinical models
Q34645240Rare and unusual endocrine cancer syndromes with mutated genes
Q30431817Ras and Rap signaling in synaptic plasticity and mental disorders
Q33755692Recent advances in the genetics of epilepsy: insights from human and animal studies
Q98293148Recombinant Tumor Suppressor TSC1 Differentially Interacts with Escherichia coli DnaK and Human HSP70
Q35524626Reelin' in Genes for Cortical Dysplasia
Q55463935Regression of subependymal giant cell astrocytomas with RAD001 (Everolimus) in tuberous sclerosis complex.
Q35546651Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
Q28262376Regulation of B-Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent
Q44533995Regulation of PCNA and CAF-1 expression by the two tuberous sclerosis gene products
Q34488136Regulation of cell size in growth, development and human disease: PI3K, PKB and S6K
Q26995791Regulation of mTORC1 by PI3K signaling
Q27025586Regulation of mTORC1 by amino acids
Q37267573Renal and liver tumors in Tsc2(+/-) mice, a model of tuberous sclerosis complex, do not respond to treatment with atorvastatin, a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor
Q31126940Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures
Q48316314Renal angiomyolipomas, cysts, and cancer in tuberous sclerosis complex
Q91555958Renal disease in tuberous sclerosis complex: pathogenesis and therapy
Q37400584Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?
Q38556354Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.
Q40855223Renal lesion growth in children with tuberous sclerosis complex
Q35227615Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature
Q54279965Renal tumours in a Tsc1+/– mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin
Q87449061Renal tumours in a Tsc2(+/-) mouse model do not show feedback inhibition of Akt and are effectively prevented by rapamycin
Q37464956Resting and task-modulated high-frequency brain rhythms measured by scalp encephalography in infants with tuberous sclerosis complex.
Q37962315Retinal Manifestations of the Phakomatoses
Q24648897Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
Q37260909Reversing neurodevelopmental disorders in adults
Q34810946Review of the clinical, histological, and molecular aspects of pancreatic endocrine neoplasms.
Q34136234Rheb activates AMPK and reduces p27Kip1 levels in Tsc2-null cells via mTORC1-independent mechanisms: implications for cell proliferation and tumorigenesis
Q34472032Rheb activation disrupts spine synapse formation through accumulation of syntenin in tuberous sclerosis complex
Q28207283Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins
Q35077120Rheb is essential for murine development
Q36300188Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review
Q34615463Role of the Tsc1-Tsc2 complex in signaling and transport across the cell membrane in the fission yeast Schizosaccharomyces pombe
Q88515019Roles for neuronal and glial autophagy in synaptic pruning during development
Q22008476SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
Q37634656Seizure localization in patients with multiple tubers: presurgical evaluation in tuberous sclerosis
Q27308143Seizure-dependent mTOR activation in 5-HT neurons promotes autism-like behaviors in mice
Q34136115Seizures and intellectual outcome: Clinico-radiological study of 30 Egyptian cases of tuberous sclerosis complex
Q31992449Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers
Q34808699Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients
Q33597406Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers
Q45962222Self-reported reproductive health in women with tuberous sclerosis complex.
Q37350686Shank mutant mice as an animal model of autism
Q24522447Signaling by target of rapamycin proteins in cell growth control
Q28144266Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney
Q47139666Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex.
Q34627013Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin
Q28395313Somatic mutation, genomic variation, and neurological disease
Q38793867Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
Q77519093Some neoplasms and some hamartomatous syndromes: genetic considerations
Q55361036Sporadic renal angiomyolipoma in a patient with Birt-Hogg-Dubé: chaperones in pathogenesis.
Q27319406Stochastic model of Tsc1 lesions in mouse brain
Q40075039Structure of the TBC1D7-TSC1 complex reveals that TBC1D7 stabilizes dimerization of the TSC1 C-terminal coiled coil region
Q30391512Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis
Q47145272Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
Q38150748Subependymal giant cell astrocytomas in patients with tuberous sclerosis complex: considerations for surgical or pharmacotherapeutic intervention
Q60955528Subthreshold micropulse laser photocoagulation therapy in a case of bilateral retinal astrocytic hamartomas with tuberous sclerosis complex: A case report
Q48232028Sudden unexpected death in childhood associated with cardiac rhabdomyoma, involuting adrenal ganglioneuroma, and megalencephaly: another expression of tuberous sclerosis?
Q74549886Summary of ocular genetic disorders and inherited systemic conditions with eye findings
Q48378903Suppressed Expression of Autophagosomal Protein LC3 in Cortical Tubers of Tuberous Sclerosis Complex
Q36829415Suppression of tumor suppressor Tsc2 and DNA repair glycosylase Nth1 during spontaneous liver tumorigenesis in Long-Evans Cinnamon rats
Q88687508Surgery for subependymal giant cell astrocytomas in children with tuberous sclerosis complex
Q30692065Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions
Q36479094Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders
Q37463670T-cell co-regulatory molecule expression in renal angiomyolipoma and pulmonary lymphangioleiomyomatosis
Q38715345TFEB activation restores migration ability to Tsc1-deficient adult neural stem/progenitor cells
Q30312086TOR signaling
Q36916367TSC-mTOR maintains quiescence and function of hematopoietic stem cells by repressing mitochondrial biogenesis and reactive oxygen species
Q92793948TSC1 Gene Therapy AAVerts Neurological Associated Mortality
Q38434696TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex
Q40424038TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth
Q39196241TSC1 involvement in bladder cancer: diverse effects and therapeutic implications
Q33991599TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival
Q43168046Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload
Q35138543Targeting Rb inactivation in cancers by synthetic lethality
Q47562691Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development
Q36313171The Akt of translational control
Q38001221The Surgical Approach to Multifocal Renal Cancers: Hereditary Syndromes, Ipsilateral Multifocality, and Bilateral Tumors
Q24299969The TSC1 gene product hamartin interacts with NADE
Q24306637The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton
Q22254081The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
Q28507365The TSC1-2 tumor suppressor controls insulin-PI3K signaling via regulation of IRS proteins
Q34420296The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits
Q24645204The TSC1-TSC2 complex: a molecular switchboard controlling cell growth
Q40769463The Tuberous Sclerosis 2 Gene Product Can Localize to Nuclei in a Phosphorylation-Dependent Manner
Q53256800The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex
Q43592528The chromosome 9q genes TGFBR1, TSC1, and ZNF189 are rarely mutated in bladder cancer
Q50303440The clinical utility of the Social Responsiveness Scale and Social Communication Questionnaire in tuberous sclerosis complex
Q91955016The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas
Q55067670The concise handbook of family cancer syndromes. Mayo Familial Cancer Program.
Q30365726The determinants of head and neck cancer: Unmasking the PI3K pathway mutations
Q30518266The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex.
Q39678422The economic burden of tuberous sclerosis complex in UK patients with renal manifestations: a retrospective cohort study in the clinical practice research datalink (CPRD).
Q39706758The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink
Q34318188The evolution of the TOR pathway and its role in cancer
Q40399733The farnesyl transferase inhibitor (FTI) SCH66336 (lonafarnib) inhibits Rheb farnesylation and mTOR signaling. Role in FTI enhancement of taxane and tamoxifen anti-tumor activity
Q35746972The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms
Q35210970The genetic basis of renal cell carcinoma
Q51991180The genetic basis of tuberous sclerosis
Q74266215The genetics of learning disabilities
Q33723575The genetics of transitional cell carcinoma: progress and potential clinical application
Q33826893The genomic landscape of tuberous sclerosis complex
Q37831801The long and winding road to rational treatment of cancer associated with LKB1/AMPK/TSC/mTORC1 signaling
Q38108676The mTOR Signaling Pathway in Pediatric Neuroblastoma
Q47575718The mTOR inhibitor revolution rolls on.
Q37197352The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells
Q27010414The molecular biology of WHO grade I astrocytomas
Q36301318The molecular genetics of gastroenteropancreatic neuroendocrine tumors
Q36617717The neurobiology of the tuberous sclerosis complex
Q37139373The pathogenesis and imaging of the tuberous sclerosis complex
Q38724342The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex.
Q28590041The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis
Q32033134The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis
Q72997148The spectrum of renal cysts in adulthood--discussion of eight cases
Q39762792The transcription factor SP1 regulates centriole function and chromosomal stability through a functional interaction with the mammalian target of rapamycin/raptor complex.
Q24628011The tuberous sclerosis complex
Q35964423The tuberous sclerosis complex genes in tumor development
Q48354112The tuberous sclerosis complex: a comprehensive review
Q24290817The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
Q38676485The tumor suppressor hamartin enhances Dbl protein transforming activity through interaction with ezrin.
Q40237430Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice
Q33869969Three independent mutations in the TSC2 gene in a family with tuberous sclerosis
Q47816362Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences
Q33316872Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
Q34489778Toward an etiological classification of developmental disorders of the kidney and upper urinary tract
Q42822932Transgenic expression of dominant negative tuberin through a strong constitutive promoter results in a tissue-specific tuberous sclerosis phenotype in the skin and brain
Q37737055Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality
Q90428516Translation deregulation in human disease
Q39182861Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex.
Q43136879Treatment with the mTOR inhibitor temsirolimus in patients with malignant PEComa
Q34731132Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.
Q40711462Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling
Q39654246Tsc1 haploinsufficiency is sufficient to increase dendritic patterning and Filamin A levels
Q28507548Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
Q36520423Tsc2, a positional candidate gene underlying a quantitative trait locus for hepatic steatosis
Q53622635Tuberin activates the proapoptotic molecule BAD.
Q44835748Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.
Q28281015Tuberin binds p27 and negatively regulates its interaction with the SCF component Skp2
Q28211005Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis
Q46845886Tuberin--a new molecular target in Alzheimer's disease?
Q38379999Tuberous Sclerosis Complex: An Update for Dermatologists
Q59330605Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study
Q38414596Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management.
Q47761111Tuberous Sclerosis Gene 2 Product Modulates Transcription Mediated by Steroid Hormone Receptor Family Members
Q83945418Tuberous Sclerosis and Epilepsy
Q64129273Tuberous sclerosis
Q77330384Tuberous sclerosis
Q79990267Tuberous sclerosis
Q82029971Tuberous sclerosis
Q37854881Tuberous sclerosis and cardiac rhabdomyomas: a case report and review of the literature
Q47983543Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant
Q36108778Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond
Q33337266Tuberous sclerosis as an underlying basis for infantile spasm
Q43718788Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression
Q35258306Tuberous sclerosis complex and Wolff-Parkinson-White syndrome
Q36770459Tuberous sclerosis complex and epilepsy: recent developments and future challenges
Q30773684Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases
Q75333522Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases
Q36271047Tuberous sclerosis complex and the ketogenic diet
Q38725858Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy
Q28293292Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria
Q28298922Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Q28646935Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
Q91979647Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy: A case report
Q33757948Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Q37134137Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment
Q38081851Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action
Q38994919Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches.
Q39408346Tuberous sclerosis complex: Recent advances in manifestations and therapy.
Q37678112Tuberous sclerosis complex: a brave new world?
Q36505021Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects.
Q35187265Tuberous sclerosis complex: everything old is new again
Q36313189Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease
Q36387783Tuberous sclerosis complex: molecular pathogenesis and animal models
Q36239644Tuberous sclerosis complex: neurological, renal and pulmonary manifestations
Q38297624Tuberous sclerosis complex: the past and the future
Q34276993Tuberous sclerosis gene products in proliferation control
Q48381495Tuberous sclerosis-related gene expression in normal and dysplastic brain
Q34562010Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
Q35009510Tuberous sclerosis: a presentation of less-commonly encountered stigmata
Q34173640Tuberous sclerosis: from tubers to mTOR.
Q33788736Tumor suppressor genes in ophthalmology
Q90043715Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion
Q35143191Tumour suppressors hamartin and tuberin: intracellular signalling
Q36620770Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China
Q55365458Two target regions of allelic loss on chromosome 9 in urinary-bladder cancer.
Q33790242Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex
Q42376775Understanding the health economic burden of patients with tuberous sclerosis complex (TSC) with epilepsy: a retrospective cohort study in the UK Clinical Practice Research Datalink (CPRD).
Q34375358Unusual causes of pneumothorax
Q48717873Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene
Q36968955Using neurofibromatosis-1 to better understand and treat pediatric low-grade glioma
Q35410898Utility of [18F]2-fluoro-2-deoxyglucose-PET in sporadic and tuberous sclerosis-associated lymphangioleiomyomatosis.
Q48243585Value of fetal cerebral MRI in sonographically proven cardiac rhabdomyoma
Q58705385Vps34-mediated macropinocytosis in Tuberous Sclerosis Complex 2-deficient cells supports tumorigenesis
Q64095536Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex
Q30644475Wide spectrum of clinical manifestations in children with tuberous sclerosis complex – Follow-up of 20 children
Q47944047dTBC1D7 regulates systemic growth independently of TSC through insulin signaling.
Q41610591gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle
Q38798392mTOR Inhibitors in Children: Current Indications and Future Directions in Neurology
Q54978861mTOR Signaling and Neural Stem Cells: The Tuberous Sclerosis Complex Model.
Q30539812mTOR regulates tau phosphorylation and degradation: implications for Alzheimer's disease and other tauopathies.
Q36919646mTOR signalling in human cancer
Q37350523mTOR, a Potential Target to Treat Autism Spectrum Disorder
Q33292354p27Kip1 localization depends on the tumor suppressor protein tuberin

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