Published in N Engl J Med on January 10, 2008
The LKB1-AMPK pathway: metabolism and growth control in tumour suppression. Nat Rev Cancer (2009) 8.43
Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med (2011) 6.74
The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J (2008) 6.32
LKB1 and AMP-activated protein kinase control of mTOR signalling and growth. Acta Physiol (Oxf) (2009) 2.94
mTOR signaling and drug development in cancer. Nat Rev Clin Oncol (2010) 2.77
Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med (2011) 2.67
Common corruption of the mTOR signaling network in human tumors. Oncogene (2008) 2.60
The tuberous sclerosis complex. Ann N Y Acad Sci (2010) 2.51
Amino acids and mTORC1: from lysosomes to disease. Trends Mol Med (2012) 2.38
mTOR and HIF-1alpha-mediated tumor metabolism in an LKB1 mouse model of Peutz-Jeghers syndrome. Proc Natl Acad Sci U S A (2009) 2.08
"Malignant" perivascular epithelioid cell neoplasm: risk stratification and treatment strategies. Sarcoma (2012) 1.75
Lymphangioleiomyomatosis: what do we know and what are we looking for? Eur Respir Rev (2011) 1.73
mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3. Oncogene (2014) 1.69
Serum VEGF-D a concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial. Lancet Respir Med (2013) 1.69
Control of HIF-1{alpha} and vascular signaling in fetal lung involves cross talk between mTORC1 and the FGF-10/FGFR2b/Spry2 airway branching periodicity clock. Am J Physiol Lung Cell Mol Physiol (2010) 1.63
Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders. Trends Mol Med (2010) 1.46
From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res (2009) 1.37
mTORC2 is required for proliferation and survival of TSC2-null cells. Mol Cell Biol (2011) 1.36
Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. Neurology (2013) 1.33
The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway. Hum Mol Genet (2008) 1.30
Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics (2011) 1.27
Renal angiomyolipoma: a radiological classification and update on recent developments in diagnosis and management. Abdom Imaging (2014) 1.25
Rapamycin weekly maintenance dosing and the potential efficacy of combination sorafenib plus rapamycin but not atorvastatin or doxycycline in tuberous sclerosis preclinical models. BMC Pharmacol (2009) 1.20
Equivalent benefit of mTORC1 blockade and combined PI3K-mTOR blockade in a mouse model of tuberous sclerosis. Mol Cancer (2009) 1.16
Comparison of three rapamycin dosing schedules in A/J Tsc2+/- mice and improved survival with angiogenesis inhibitor or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors. J Transl Med (2010) 1.15
Rapamycin-insensitive up-regulation of MMP2 and other genes in tuberous sclerosis complex 2-deficient lymphangioleiomyomatosis-like cells. Am J Respir Cell Mol Biol (2009) 1.15
Rab GTPases implicated in inherited and acquired disorders. Semin Cell Dev Biol (2010) 1.15
Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol (2014) 1.11
mTOR Inhibitors in Tuberous Sclerosis Complex. Curr Neuropharmacol (2012) 1.09
Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex. Neurotherapeutics (2010) 1.08
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. Childs Nerv Syst (2011) 1.08
Non-canonical functions of the tuberous sclerosis complex-Rheb signalling axis. EMBO Mol Med (2011) 1.07
Using genetics and genomics strategies to personalize therapy for cancer: focus on melanoma. Biochem Pharmacol (2010) 1.06
Volumes to learn: advancing therapeutics with innovative computed tomography image data analysis. Clin Cancer Res (2010) 1.01
Malignant perivascular epithelioid cell tumor of the uterus. Rare Tumors (2012) 1.01
Equivalent benefit of rapamycin and a potent mTOR ATP-competitive inhibitor, MLN0128 (INK128), in a mouse model of tuberous sclerosis. Mol Cancer Res (2013) 1.00
Mammalian target of rapamycin signaling and autophagy: roles in lymphangioleiomyomatosis therapy. Proc Am Thorac Soc (2010) 0.99
Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin. Dis Model Mech (2010) 0.96
mTOR Inhibition: From Aging to Autism and Beyond. Scientifica (Cairo) (2013) 0.94
Clinical utility of diagnostic guidelines and putative biomarkers in lymphangioleiomyomatosis. Respir Res (2012) 0.92
Is sirolimus a therapeutic option for patients with progressive pulmonary lymphangioleiomyomatosis? Respir Res (2011) 0.89
Sirolimus for lymphangioleiomyomatosis lesions. N Engl J Med (2008) 0.83
Human TSC-associated renal angiomyolipoma cells are hypersensitive to ER stress. Am J Physiol Renal Physiol (2012) 0.82
Clinical trials for rare lung diseases: lessons from lymphangioleiomyomatosis. Lymphat Res Biol (2010) 0.81
Three-dimensional Radiologic Assessment of Chemotherapy Response in Ewing Sarcoma Can Be Used to Predict Clinical Outcome. Radiology (2016) 0.81
Tuberous sclerosis complex: a brave new world? Curr Opin Neurol (2010) 0.80
Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop. Am J Physiol Renal Physiol (2013) 0.79
Therapeutic options for lymphangioleiomyomatosis (LAM): where we are and where we are going. F1000 Med Rep (2009) 0.79
Optimizing treatments for lymphangioleiomyomatosis. Expert Rev Respir Med (2012) 0.79
PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex. Sci Rep (2015) 0.79
SRC kinase is a novel therapeutic target in lymphangioleiomyomatosis. Cancer Res (2014) 0.79
Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish. Dis Model Mech (2013) 0.78
Antibody αPEP13h reacts with lymphangioleiomyomatosis cells in lung nodules. Chest (2015) 0.78
Efficacy and safety of a mammalian target of rapamycin inhibitor in pediatric patients with tuberous sclerosis complex: A systematic review and meta-analysis. Exp Ther Med (2014) 0.78
Multimodality therapy for metastatic sarcomas confined to the lung. Oncol Lett (2012) 0.77
Tuberous sclerosis complex: everything old is new again. J Neurodev Disord (2009) 0.76
Giant bilateral renal angiomyolipomas and lymphangioleiomyomatosis presenting after two successive pregnancies successfully treated with surgery and rapamycin. ScientificWorldJournal (2011) 0.75
Recent Advances and Challenges of mTOR Inhibitors Use in the Treatment of Patients with Tuberous Sclerosis Complex. Oxid Med Cell Longev (2017) 0.75
Pulmonary lymphangioleiomyomatosis associated with retroperitoneal lymphangioleiomyomas. BMJ Case Rep (2012) 0.75
A National Heart, Lung, and Blood Institute history and perspective on lymphangioleiomyomatosis. Lymphat Res Biol (2010) 0.75
Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2(+/-) Mice Is Superior to Everolimus Alone. Neoplasia (2017) 0.75
The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial. Trials (2016) 0.75
A brain proteomic investigation of rapamycin effects in the Tsc1(+/-) mouse model. Mol Autism (2017) 0.75
The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2(+/-) mice through suppression of cell proliferation and induction of apoptosis. Oncotarget (2017) 0.75
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. Nat Genet (2002) 7.00
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Res (2008) 3.49
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet (2007) 3.08
Renal angiomyolipomata. Kidney Int (2004) 3.05
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia (2008) 2.81
A 2-year randomised placebo-controlled trial of doxycycline for lymphangioleiomyomatosis. Eur Respir J (2013) 2.72
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet (2011) 2.52
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet (2002) 2.48
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 2.42
Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res (2011) 2.06
Inhaled corticosteroids and hip fracture: a population-based case-control study. Am J Respir Crit Care Med (2002) 1.87
Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int (2009) 1.76
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. Eur J Hum Genet (2011) 1.58
Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int (2008) 1.58
Hepatocyte growth factor or vascular endothelial growth factor gene transfer maximizes mesenchymal stem cell-based myocardial salvage after acute myocardial infarction. Circulation (2009) 1.54
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst (2010) 1.48
Molecular and phenotypic characterization of ring chromosome 22. Am J Med Genet A (2005) 1.45
MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing. DNA Repair (Amst) (2006) 1.45
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet (2009) 1.41
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology (2008) 1.40
Complications of open abdominal aortic surgery: the endovascular solution. Interact Cardiovasc Thorac Surg (2007) 1.39
Counter-regulation of opioid analgesia by glial-derived bioactive sphingolipids. J Neurosci (2010) 1.34
Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet (2005) 1.32
Leiden Open Variation Database of the MUTYH gene. Hum Mutat (2010) 1.28
Air travel in women with lymphangioleiomyomatosis. Thorax (2006) 1.27
Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol (2008) 1.27
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology (2009) 1.21
Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol (2004) 1.21
A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Hum Mol Genet (2005) 1.21
Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Res (2005) 1.21
Controlling murine and rat chronic pain through A3 adenosine receptor activation. FASEB J (2012) 1.20
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet (2011) 1.20
Quadrupling the dose of inhaled corticosteroid to prevent asthma exacerbations: a randomized, double-blind, placebo-controlled, parallel-group clinical trial. Am J Respir Crit Care Med (2009) 1.20
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. Eur J Hum Genet (2012) 1.14
Exposing the MYtH about base excision repair and human inherited disease. Hum Mol Genet (2003) 1.14
The tuberous sclerosis complex. N Engl J Med (2007) 1.11
Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2. Genes Chromosomes Cancer (2004) 1.10
Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population. BMC Med Genet (2010) 1.08
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Hum Mutat (2011) 1.08
Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Hum Genet (2003) 1.08
Effect of doxycycline on proliferation, MMP production, and adhesion in LAM-related cells. Am J Physiol Lung Cell Mol Physiol (2010) 1.06
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat (2012) 1.05
The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Arch Dis Child (2011) 1.03
Abusive head trauma in Maine infants: medical, child protective, and law enforcement analysis. Child Abuse Negl (2003) 1.03
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A (2003) 1.01
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat (2007) 1.01
Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability. J Natl Cancer Inst (2013) 0.98
Systemic and bronchodilator effects of inhaled rac-formoterol in subjects with chronic obstructive pulmonary disease: a dose-response study. Br J Clin Pharmacol (2008) 0.98
Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats. Behav Genet (2010) 0.98
Plasma concentrations of inhaled corticosteroids in relation to airflow obstruction in asthma. Br J Clin Pharmacol (2006) 0.98
Lymphangioleiomyomatosis. Semin Respir Crit Care Med (2002) 0.96
Cloning and characterization of two novel zebrafish P2X receptor subunits. Biochem Biophys Res Commun (2002) 0.96
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Hum Mutat (2010) 0.96
Pregnancy experiences among women with lymphangioleiomyomatosis. Respir Med (2008) 0.96
Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice. Cancer Res (2006) 0.95
MMP-9 protein level does not reflect overall MMP activity in the airways of patients with COPD. Respir Med (2008) 0.94
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis (2005) 0.94
Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Res (2002) 0.93
Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study. Nephron (2016) 0.93
A benefit-risk assessment of inhaled long-acting beta2-agonists in the management of obstructive pulmonary disease. Drug Saf (2004) 0.93
Poor adherence with inhaled corticosteroids for asthma: can using a single inhaler containing budesonide and formoterol help? Br J Gen Pract (2008) 0.93
Clinical utility of diagnostic guidelines and putative biomarkers in lymphangioleiomyomatosis. Respir Res (2012) 0.92
Molecular structure of P2X receptors. Curr Top Med Chem (2004) 0.92
NTNG1 mutations are a rare cause of Rett syndrome. Am J Med Genet A (2006) 0.92
Tissue and matrix influences on airway smooth muscle function. Pulm Pharmacol Ther (2008) 0.92
Use of a three-dimensional cell culture model to study airway smooth muscle-mast cell interactions in airway remodeling. Am J Physiol Lung Cell Mol Physiol (2009) 0.92
Descriptors of breathlessness in patients with cancer and other cardiorespiratory diseases. J Pain Symptom Manage (2002) 0.91
Matrix metalloproteinase expression and activity in human airway smooth muscle cells. Br J Pharmacol (2004) 0.90
'Over-the-counter' genetic testing: what does it really mean for primary care? Br J Gen Pract (2009) 0.90
Evolution of the TSC1/TSC2-TOR signaling pathway. Sci Signal (2010) 0.89
Carbimazole embryopathy: an emerging phenotype. Am J Med Genet A (2005) 0.88
Development of ICF Core Sets to standardize assessment of functioning and impairment in ADHD: the path ahead. Eur Child Adolesc Psychiatry (2013) 0.88
Spinal ceramide and neuronal apoptosis in morphine antinociceptive tolerance. Neurosci Lett (2009) 0.88
Classification of functioning and impairment: the development of ICF core sets for autism spectrum disorder. Autism Res (2013) 0.87
Plasma concentrations of fluticasone propionate and budesonide following inhalation: effect of induced bronchoconstriction. Br J Clin Pharmacol (2007) 0.87
NMDA-receptor activation and nitroxidative regulation of the glutamatergic pathway during nociceptive processing. Pain (2010) 0.87
Advances in the treatment of tuberous sclerosis complex. Curr Opin Psychiatry (2015) 0.87
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Hum Mutat (2003) 0.87
Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin. Eur J Cancer (2012) 0.86
High-capacity hydrogen storage in lithium and sodium amidoboranes. Nat Mater (2007) 0.86
Retooling manganese(III) porphyrin-based peroxynitrite decomposition catalysts for selectivity and oral activity: a potential new strategy for treating chronic pain. J Med Chem (2011) 0.86
Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma. Carcinogenesis (2003) 0.84
Matrix metalloproteinase-12 (MMP-12) SNP affects MMP activity, lung macrophage infiltration and protects against emphysema in COPD. Thorax (2011) 0.82
A comprehensive scoping review of ability and disability in ADHD using the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY). Eur Child Adolesc Psychiatry (2015) 0.82
Lymphangioleiomyomatosis: a national registry for a rare disease. Am J Respir Crit Care Med (2006) 0.81