Citation Impact
Citing Papers
Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
2003 StandoutScience
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
PIEZOs mediate neuronal sensing of blood pressure and the baroreceptor reflex
2018 StandoutScienceNobel
Frequent Mutations of Chromatin Remodeling Gene ARID1A in Ovarian Clear Cell Carcinoma
2010 StandoutScience
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
Piezo1 in Smooth Muscle Cells Is Involved in Hypertension-Dependent Arterial Remodeling
2015
Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
2008
A Little CFTR Goes a Long Way: CFTR-Dependent Sweat Secretion from G551D and R117H-5T Cystic Fibrosis Subjects Taking Ivacaftor
2014
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
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
Genetic analysis of autoimmune type 1 diabetes mellitus in mice
1991 Nature
Mouse genetic models for prepulse inhibition: an early review
2002
Physical Principles of Membrane Shape Regulation by the Glycocalyx
2019 StandoutNobel
The Tuberous Sclerosis Complex
2006 Standout
Endometrial Carcinomas
2011
Long-term uncoupling of chloride secretion from intracellular calcium levels by lns(3,4,5,6)P4
1994 StandoutNatureNobel
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
Understanding how cystic fibrosis mutations disrupt CFTR function: From single molecules to animal models
2014
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
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
RAS and RHO GTPases in G1-phase cell-cycle regulation
2004
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
Relative Contribution of Genetic and Nongenetic Modifiers to Intestinal Obstruction in Cystic Fibrosis
2006
Genotype and Phenotype in Cystic Fibrosis
2000
Clinical Epidemiological Quality in Molecular Genetic Research
1999
Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks
2009 StandoutNobel
Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner
2005
Founder Effect at PGL1 in Hereditary Head and Neck Paraganglioma Families from The Netherlands
1998
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
2006
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
Knockout mouse model for Fxr2: a model for mental retardation
2002
Modifier genes in Mendelian disorders: the example of cystic fibrosis
2010
TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth
2001
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
2006
The TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton
2002
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
Breast Cancer after Prophylactic Bilateral Mastectomy in Women with aBRCA1orBRCA2Mutation
2001
Upstream and downstream of mTOR
2004 Standout
Comprehensive Proteomic Analysis of Interphase and Mitotic 14-3-3-binding Proteins
2004
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
2001
Processing of CFTR: Traversing the cellular maze—How much CFTR needs to go through to avoid cystic fibrosis?
2005
Integrated genomic characterization of endometrial carcinoma
2013 StandoutNature
The 14-3-3 proteins: integrators of diverse signaling cues that impact cell fate and cancer development
2008
Angelman syndrome: a review of clinical and genetic aspects
1999
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
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
2002 Standout
Tuberous sclerosis
2008 Standout
Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration
2002
Akt regulates growth by directly phosphorylating Tsc2
2002 Standout
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Cystic fibrosis genetics: from molecular understanding to clinical application
2014 Standout
The Neurology of mTOR
2014
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
Tuberous Sclerosis: from Tubers to mTOR
2003
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
2007
CFTR Genotype as a Predictor of Prognosis in Cystic Fibrosis
2006
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
A constitutively open potassium channel formed by KCNQ1 and KCNE3
2000 StandoutNature
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios
2002
Cystic fibrosis: molecular biology and therapeutic implications
1992 StandoutScience
Loss of autophagy in the central nervous system causes neurodegeneration in mice
2006 StandoutNature
A functional CFTR assay using primary cystic fibrosis intestinal organoids
2013
Complementation of the xeroderma pigmentosum DNA repair synthesis defect withEscherichia coliUvrABC proteins in a cell-free system
1990 StandoutNobel
The Neurobiology of the Tuberous Sclerosis Complex
2006
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for Reporting Observational Studies
2007 Standout
Surrogate Wnt agonists that phenocopy canonical Wnt and β-catenin signalling
2017 StandoutNatureNobel
Genetic Modifiers of Lung Disease in Cystic Fibrosis
2005
XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes
1996
Neuropathology of tuberous sclerosis
2001
Ras, PI(3)K and mTOR signalling controls tumour cell growth
2006 StandoutNature
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
2007
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
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies
2007 Standout
Lung disease modifier genes in cystic fibrosis
2014
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia
2010
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
Categories of ΔF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics
2000
Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients
1998
Pulmonary Function and Clinical Observations in Men With Congenital Bilateral Absence of the Vas Deferens
1996
Drosophila Tsc1 Functions with Tsc2 to Antagonize Insulin Signaling in Regulating Cell Growth, Cell Proliferation, and Organ Size
2001
Modulation of Cell Migration and Invasiveness by Tumor Suppressor TSC2 in Lymphangioleiomyomatosis
2005
Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers
2002
Coated pits, coated vesicles, and receptor-mediated endocytosis
1979 StandoutNatureNobel
Establishment of NOD-Pdcd1-/-mice as an efficient animal model of type I diabetes
2005 StandoutNobel
Outcome of Preventive Surgery and Screening for Breast and Ovarian Cancer in BRCA Mutation Carriers
2002
Hijacking the Chromatin Remodeling Machinery: Impact ofSWI/SNFPerturbations in Cancer
2009
Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment
2005
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
1993 StandoutNobel
TSC2: filling the GAP in the mTOR signaling pathway
2003
In vitro repair of oxidative DNA damage by human nucleotide excision repair system: Possible explanation for neurodegeneration in Xeroderma pigmentosum patients
1997 StandoutNobel
Cholinergic ion secretion in human colon requires coactivation by cAMP
1998
eIF3d is an mRNA cap-binding protein that is required for specialized translation initiation
2016 StandoutNatureNobel
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
Tuberous sclerosis
2006
14-3-3 interacts with the tumor suppressor tuberin at Akt phosphorylation site(s).
2002
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression
2014
Intracellular protein topogenesis
1980 StandoutNobel
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases
1987 Standout
The transport of lysosomal enzymes
1977
The Tuberous Sclerosis Complex and its Highly Variable Manifestations
2003
A Receptor-Mediated Pathway for Cholesterol Homeostasis
1986 StandoutScienceNobel
Organogenesis in a dish: Modeling development and disease using organoid technologies
2014 StandoutScience
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
2011 StandoutNobel
Control of skin cancer by the circadian rhythm
2011 StandoutNobel
The enterocyte microvillus is a vesicle-generating organelle
2009
Pam and Its Ortholog Highwire Interact with and May Negatively Regulate the TSC1·TSC2 Complex
2004
The TSC1–TSC2 complex: a molecular switchboard controlling cell growth
2008 Standout
Mechanically activated ion channel PIEZO1 is required for lymphatic valve formation
2018 StandoutNobel
The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: Guidelines for Reporting Observational Studies
2007 Standout
Cystic fibrosis: a disease in electrolyte transport
1990
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Clinical features of Friedreich's ataxia: classical and atypical phenotypes
2013
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
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
2004
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
2000 StandoutScience
Inhibition of intestinal Cl- secretion by clotrimazole: direct effect on basolateral membrane K+ channels
1997
Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning
2006
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Works of Dicky Halley 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
Complete FXN Deletion in a Patient with Friedreich's Ataxia
2012
Genetic heterogeneity in tuberous sclerosis
1990
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene
1998
Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families
1999
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
Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.
1994
Tuberous Sclerosis: Between Genetic and Physical Analysis
1996
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
Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis
2000
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex
2004
The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis
2004
A Novel Splicing Mutation in KCNQ2 in a Multigenerational Family with BFNC Followed for 25 Years
2006
Characterization of the Cytosolic Tuberin-Hamartin Complex
1999
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings
2001
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
2008
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
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
2000
Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey
1997
A Cystic Fibrosis Mutation Associated with Mild Lung Disease
1995
Identification of the L927P and ΔL1260 mutations in the CFTR gene
1994
Phosphorylation and binding partner analysis of the TSC1–TSC2 complex
2005
Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair
1979
Cosmid Contigs from theTuberous Sclerosis CandidateRegion on Chromosome 9q34
1995
Founder effect in a Belgian-Dutch fragile X population
1993
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
1999
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting
2008
Intercellular exchange of lysosomal enzymes: Enzyme assays in single human fibroblasts after co-cultivation
1976
Functional Assessment ofTSC2Variants Identified in Individuals with Tuberous Sclerosis Complex
2013
Angelman syndrome without detectable chromosome 15q11-13 anomaly: Clinical study of familial and isolated cases
1998
Chloride Transport in the Cystic Fibrosis Enterocyte
1991
Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2
1999