Citation Impact

Citing Papers

Functional specialization of β-arrestin interactions revealed by proteomic analysis
2007 StandoutNobel
Lysine Acetylation Targets Protein Complexes and Co-Regulates Major Cellular Functions
2009 StandoutScience
Biochemical and Functional Characterizations of Small GTPase Rheb and TSC2 GAP Activity
2004
Identification of the Tuberous Sclerosis Complex-2 Tumor Suppressor Gene Product Tuberin as a Target of the Phosphoinositide 3-Kinase/Akt Pathway
2002 Standout
TOR Signaling in Growth and Metabolism
2006 Standout
TSC1 Activates TGF-β-Smad2/3 Signaling in Growth Arrest and Epithelial-to-Mesenchymal Transition
2015
Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
2008
The Tuberous Sclerosis 2 Gene Product, Tuberin, Functions as a Rab5 GTPase Activating Protein (GAP) in Modulating Endocytosis
1997
Hamartin and Tuberin Expression in Human Tissues
2001
Autism and tuberous sclerosis
1992
Differential Membrane Localization of ERas and Rheb, Two Ras-related Proteins Involved in the Phosphatidylinositol 3-Kinase/mTOR Pathway
2005 StandoutNobel
Structures, sequence characteristics, and synteny relationships of the transcription factor E4TF1, the splicing factor U2AF35 and the cystathionine beta synthetase genes from Fugu rubripes
1999
Tuberous Sclerosis Complex 2 Gene Product Interacts with Human SMAD Proteins
2004
The Drosophila Tuberous Sclerosis Complex Gene Homologs Restrict Cell Growth and Cell Proliferation
2001
Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis
1999
mTOR Signaling in Growth Control and Disease
2012 Standout
The Tuberous Sclerosis Complex
2006 Standout
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis
1997
Positive and Negative Regulation of TSC2 Activity and Its Effects on Downstream Effectors of the mTOR Pathway
2005
The tor pathway: a target for cancer therapy
2004 Standout
The p38 and MK2 Kinase Cascade Phosphorylates Tuberin, the Tuberous Sclerosis 2 Gene Product, and Enhances Its Interaction with 14-3-3
2003
Tsc tumour suppressor proteins antagonize amino-acid–TOR signalling
2002
Spatial Control of the TSC Complex Integrates Insulin and Nutrient Regulation of mTORC1 at the Lysosome
2014
Identification of Tuberin, the Tuberous Sclerosis-2 Product. TUBERIN POSSESSES SPECIFIC Rap1GAP ACTIVITY
1995
AKT/PKB Signaling: Navigating Downstream
2007 Standout
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
2007
Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease
2005
The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners
2008
Estrogen-induced Smooth Muscle Cell Growth Is Regulated by Tuberin and Associated with Altered Activation of Platelet-derived Growth Factor Receptor-β and ERK-1/2
2004
Bootstrapping in human genetic linkage
1994
The mTOR pathway and its role in human genetic diseases
2008
Cell Cycle-regulated Phosphorylation of Hamartin, the Product of the Tuberous Sclerosis Complex 1 Gene, by Cyclin-dependent Kinase 1/Cyclin B
2003
Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex
2004 StandoutNobel
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
1992
Tuberin Regulates p70 S6 Kinase Activation and Ribosomal Protein S6 Phosphorylation
2002
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis
2002
Hallmarks of aging: An expanding universe
2023 Standout
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
2006
Renal angiomyolipomata
2004
gigas, a Drosophila Homolog of Tuberous Sclerosis Gene Product-2, Regulates the Cell Cycle
1999
Neural-Tube Defects
1999 Standout
Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions
2001
Response and Acquired Resistance to Everolimus in Anaplastic Thyroid Cancer
2014
Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis
1999
Temsirolimus, Interferon Alfa, or Both for Advanced Renal-Cell Carcinoma
2007 Standout
mTOR at the nexus of nutrition, growth, ageing and disease
2020 Standout
TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth
2001
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Cloning and sequencing of complement component C9 and its linkage to DOC-2 in the pufferfish Fugu rubripes
1997 StandoutNobel
Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
2008 Standout
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
2006
Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene
1997
The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton
2002
Base Excision Repair of Oxidative DNA Damage Activated by XPG Protein
1999 StandoutNobel
Hypoxia regulates TSC1/2–mTOR signaling and tumor suppression through REDD1-mediated 14–3–3 shuttling
2008
mTOR Signaling in Growth, Metabolism, and Disease
2017 Standout
Regulation of mTORC1 by PI3K signaling
2015
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
1994
Upstream and downstream of mTOR
2004 Standout
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
2003 Standout
Comprehensive Proteomic Analysis of Interphase and Mitotic 14-3-3-binding Proteins
2004
Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains
1997
The Hippo Signaling Pathway Coordinately Regulates Cell Proliferation and Apoptosis by Inactivating Yorkie, the Drosophila Homolog of YAP
2005 Standout
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
2001
Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease
2010 Standout
Phosphorylation and Functional Inactivation of TSC2 by Erk
2005 Standout
The 14-3-3 proteins: integrators of diverse signaling cues that impact cell fate and cancer development
2008
Molecular genetic advances in tuberous sclerosis
2000
Identification of a Proline-rich Akt Substrate as a 14-3-3 Binding Partner
2003
TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1
2012
Tuberous sclerosis
2008 Standout
Malignant Gliomas in Adults
2008 Standout
Akt regulates growth by directly phosphorylating Tsc2
2002 Standout
The Two TORCs and Akt
2007
The Neurology of mTOR
2014
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
2007
Competition and Compensation
2002 Standout
A Role for 14-3-3 in Insulin-stimulated GLUT4 Translocation through Its Interaction with the RabGAP AS160
2006
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios
2002
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
1995
Tuberous sclerosis complex: from Drosophila to human disease
2004
The Neurobiology of the Tuberous Sclerosis Complex
2006
AKT/PKB Signaling: Navigating the Network
2017 Standout
Tsc2 Null Murine Neuroepithelial Cells Are a Model for Human Tuber Giant Cells, and Show Activation of an mTOR Pathway
2002
TSC2 Integrates Wnt and Energy Signals via a Coordinated Phosphorylation by AMPK and GSK3 to Regulate Cell Growth
2006 Standout
Neuropathology of tuberous sclerosis
2001
The PI3K Pathway in Human Disease
2017 Standout
Ras, PI(3)K and mTOR signalling controls tumour cell growth
2006 StandoutNature
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis
1997
Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
1999
The Tuberous Sclerosis 2 Gene Product Can Localize to Nuclei in a Phosphorylation-Dependent Manner
2001
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
2005
Loss of tuberin, the tuberous‐sclerosis‐complex‐2 gene product is associated with angiogenesis
2001
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway
2016
Rictor/TORC2 regulates fat metabolism, feeding, growth, and life span in Caenorhabditis elegans
2009 StandoutNobel
Autism and Tuberous Sclerosis
1998
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
1998
Hamartin and Tuberin Interaction With the G2/M Cyclin-Dependent Kinase CDK1 and Its Regulatory Cyclins A and B
2001
Autophagy activators suppress cystogenesis in an autosomal dominant polycystic kidney disease model
2016
Genetic Causes of Brain Tumors: Neurofibromatosis, Tuberous Sclerosis, von Hippel-Lindau, and Other Syndromes
2007
The Comparative Genomic Structure and Sequence of the Surfeit Gene Homologs in the Puffer Fish Fugu rubripes and their Association with CpG-Rich Islands
1997
Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients
1998
Drosophila Tsc1 Functions with Tsc2 to Antagonize Insulin Signaling in Regulating Cell Growth, Cell Proliferation, and Organ Size
2001
Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment
2005
Tuberous sclerosis-associated neoplasms express activated p42/44 mitogen-activated protein (MAP) kinase, and inhibition of MAP kinase signaling results in decreased in vivo tumor growth.
2003
TSC2: filling the GAP in the mTOR signaling pathway
2003
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
1996 StandoutNobel
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
1996
Tuberous sclerosis complex: From molecular biology to novel therapeutic approaches
2016
eIF3d is an mRNA cap-binding protein that is required for specialized translation initiation
2016 StandoutNatureNobel
Late changes in spliceosomal introns define clades in vertebrate evolution
1999 StandoutNobel
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Tuberous sclerosis
2006
14-3-3 interacts with the tumor suppressor tuberin at Akt phosphorylation site(s).
2002
Life with 6000 Genes
1996 StandoutScience
Conserved linkage between the puffer fish (Fugu rubripes) and human genes for platelet-derived growth factor receptor and macrophage colony-stimulating factor receptor.
1996 StandoutNobel
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
The Tuberous Sclerosis Complex and its Highly Variable Manifestations
2003
mTORC1 and mTORC2 selectively regulate CD8+ T cell differentiation
2015
Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice.
1999
Pam and Its Ortholog Highwire Interact with and May Negatively Regulate the TSC1·TSC2 Complex
2004
Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies
1997 Science
The TSC1–TSC2 complex: a molecular switchboard controlling cell growth
2008 Standout
Genetic Dissection of Complex Traits
1994 StandoutScience
Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
1997 StandoutNobel
The genetic basis of tuberous sclerosis
1998
Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxyguanine-DNA glycosylase
1997 StandoutNobel
New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex
2016
mTOR Pathway as a Target in Tissue Hypertrophy
2006
Normal development is an integral part of tumorigenesis in T cell-specific PTEN-deficient mice
2008 StandoutNobel
Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning
2006
Transgenic rats reveal functional conservation of regulatory controls between the Fugu isotocin and rat oxytocin genes
1997 StandoutNobel

Works of Mark Nellist being referenced

Cognitive impairment in tuberous sclerosis complex is a multifactorial condition
2007
Large Deletion at the TSC1 Locus in a Family with Tuberous Sclerosis Complex
2005
PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex
2015
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
1998
Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish
1996
Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7)
2016
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex
2011
Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families
1994
Absence of linkage of ABO blood group locus to familial tuberous sclerosis
1989
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
2010
Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex
2008
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
2005
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome
1994
Linkage Studies in Tuberous Sclerosis
1991
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations
2015
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex
2004
Characterization of the Cytosolic Tuberin-Hamartin Complex
1999
Alternative Splicing of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Mouse Tissues
1995
Identification and Characterization of the Interaction between Tuberin and 14-3-3ζ
2002
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits
2012
Phosphorylation and binding partner analysis of the TSC1–TSC2 complex
2005
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
1996
Rheb Is Essential for Murine Development
2011
Cosmid Contigs from theTuberous Sclerosis CandidateRegion on Chromosome 9q34
1995
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients
1998
Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber
2004
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
1999
Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins
2003
Functional Assessment ofTSC2Variants Identified in Individuals with Tuberous Sclerosis Complex
2013
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
2004
TORC1‐dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice
2013
Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).
1993
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