Citation Impact
Citing Papers
Cross-regulation of TNF and IFN-α in autoimmune diseases
2005
The mucin-selective protease StcE enables molecular and functional analysis of human cancer-associated mucins
2019 StandoutNobel
Premature Aging in Mice Deficient in DNA Repair and Transcription
2002 Science
Plasmacytoid dendritic cells initiate a complex chemokine and cytokine network and are a viable drug target in chronic HCV patients
2007 StandoutNobel
A metabolic labeling approach toward proteomic analysis of mucin-type O-linked glycosylation
2003 StandoutNobel
Loss of cryptochrome reduces cancer risk in p53 mutant mice
2009 StandoutNobel
TOR Signaling in Growth and Metabolism
2006 Standout
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-GalUDP-GalNAc 4-epimerase deficient mutant
1986
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
Bioorthogonal Chemistry: Fishing for Selectivity in a Sea of Functionality
2009 StandoutNobel
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
2009
Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study
1997
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
The Third Human FER-1-like Protein Is Highly Similar to Dysferlin
2000
Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease
2005
Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex
2004 StandoutNobel
The DNA Damage Response Kinases DNA-dependent Protein Kinase (DNA-PK) and Ataxia Telangiectasia Mutated (ATM) Are Stimulated by Bulky Adduct-containing DNA
2011 StandoutNobel
Genomic evolution drives the evolution of the translation system
1995
The genome sequence of Rickettsia prowazekii and the origin of mitochondria
1998 StandoutNature
Tuberous Sclerosis Complex Gene Products, Tuberin and Hamartin, Control mTOR Signaling by Acting as a GTPase-Activating Protein Complex toward Rheb
2003 Standout
Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions
2001
Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis
1999
Relationship of CDK-activating kinase and RNA polymerase II CTD kinase TFIIH/TFIIK
1994 StandoutNobel
Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
2008 Standout
mTOR Signaling in Growth, Metabolism, and Disease
2017 Standout
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
2003 Standout
DNA Damage, Aging, and Cancer
2009 Standout
Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm
2000 StandoutNobel
Chronic Health Conditions in Adult Survivors of Childhood Cancer
2006 Standout
Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease
2010 Standout
Phosphorylation and Functional Inactivation of TSC2 by Erk
2005 Standout
Different forms of TFIIH for transcription and DNA repair: Holo-TFIIH and a nucleotide excision repairosome
1995 StandoutNobel
Molecular genetic advances in tuberous sclerosis
2000
Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes
2016
Tuberous sclerosis
2008 Standout
Pathogenesis of Tuberous Sclerosis Subependymal Giant Cell Astrocytomas: Biallelic Inactivation ofTSC1orTSC2Leads to mTOR Activation
2004
Genome maintenance mechanisms for preventing cancer
2001 StandoutNature
Hematopoietic Stem-Cell Transplantation
2006 Standout
Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis
1998
Tsc2+/– mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
1999
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios
2002
Coupling of Human DNA Excision Repair and the DNA Damage Checkpoint in a Defined in Vitro System
2014 StandoutNobel
Long-term Complications Following Childhood and Adolescent Cancer: Foundations for Providing Risk-based Health Care for Survivors
2004
Where transcription meets repair
1994 StandoutNobel
Synaptotagmins: Why So Many?
2002 StandoutNobel
Squamous cell carcinoma of the skin (excluding lip and oral mucosa)
1992
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
Global, In Vivo, and Site-Specific Phosphorylation Dynamics in Signaling Networks
2006 Standout
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
Ras, PI(3)K and mTOR signalling controls tumour cell growth
2006 StandoutNature
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
2002
Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
1999
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
2005
CSB protein is (a direct target of HIF‐1 and) a critical mediator of the hypoxic response
2008
Linking DNA damage and neurodegeneration
2000
Xeroderma pigmentosum complementation group H falls into complementation group D
1991
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases
2001
Autism and Tuberous Sclerosis
1998
Hamartin and Tuberin Interaction With the G2/M Cyclin-Dependent Kinase CDK1 and Its Regulatory Cyclins A and B
2001
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
Cutaneous Squamous-Cell Carcinoma
2001 Standout
Genome-wide analysis of human global and transcription-coupled excision repair of UV damage at single-nucleotide resolution
2015 StandoutNobel
Subependymal giant cell tumors in tuberous sclerosis complex
2004
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
1982
RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX
1998
Metabolic cross-talk allows labeling of O-linked β- N -acetylglucosamine-modified proteins via the N -acetylgalactosamine salvage pathway
2011 StandoutNobel
Investigating Cell Surface Galectin-Mediated Cross-Linking on Glycoengineered Cells
2012 StandoutNobel
Reconstitution of a human ATR-mediated checkpoint response to damaged DNA
2007 StandoutNobel
Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
1997
Quality Control by DNA Repair
1999 StandoutScienceNobel
Gene-specific formation and repair of cisplatin intrastrand adducts and interstrand cross-links in Chinese hamster ovary cells.
1991 StandoutNobel
Mechanisms of DNA Excision Repair
1994 StandoutScienceNobel
Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging
2005 StandoutScience
Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).
1994
Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe.
1993
Ketone Isosteres of 2-N-Acetamidosugars as Substrates for Metabolic Cell Surface Engineering
2001 StandoutNobel
Heterogeneity of nitrogen mustard-induced DNA damage and repair at the level of the gene in Chinese hamster ovary cells.
1990 StandoutNobel
Adaptive and Maladaptive Cardiorespiratory Responses to Continuous and Intermittent Hypoxia Mediated by Hypoxia-Inducible Factors 1 and 2
2012 StandoutNobel
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
1999
Differential Repair of the Two Major UV-Induced Photolesions in Trichothiodystrophy Fibroblasts
2004
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.
1998
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
1996
DNA nucleotide excision repair-dependent signaling to checkpoint activation
2006
DNA Repair and Its Pathogenetic Implications
1990
Mutations in the tuberous sclerosis complex geneTSC2are a cause of sporadic pulmonary lymphangioleiomyomatosis
2000
Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development
1998
Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase
2004
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
1999
LONG-TERM OUTCOME OF TRANSCATHETER EMBOLIZATION OF RENAL ANGIOMYOLIPOMAS DUE TO TUBEROUS SCLEROSIS COMPLEX
2005
The genetic basis of tuberous sclerosis
1998
Final adult height of patients who received hematopoietic cell transplantation in childhood
2004
Neuropathological findings of an autopsy case of adult ?-galactosidase and neuraminidase deficiency
1983
Molecular cloning of the human nucleotide-excision-repair gene ERCC4.
1994 StandoutNobel
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
1993
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
1996
Works of C Borrone being referenced
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome
1989
Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy
1999
Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas
1996
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
1994
Alterations in the CSB Gene in Three Italian Patients with the Severe Form of Cockayne Syndrome (CS) But Without Clinical Photosensitivity
1999
Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency
1982
Sialidosis (mucolipidosis I).
1977
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency
1983
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
1986
Differences in tumor necrosis factor-alpha soluble receptor serum concentrations between patients with Henoch-Schönlein purpura and pediatric systemic lupus erythematosus: pathogenetic implications.
1998
Fucosidosis
1969
Role of busulfan and total body irradiation on growth of prepubertal children receiving bone marrow transplantation and results of treatment with recombinant human growth hormone
1995