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    Decoding the Molecular and Mutational Ambiguities of Gastroenteropancreatic Neuroendocrine Neoplasm Pathobiology.
    Cell Mol Gastroenterol Hepatol 2015 Mar 12;1(2):131-153. Epub 2015 Jan 12.
    The Gnostic Consortium, Wren Laboratories, Branford, Connecticut.
    Gastroenteropancreatic neuroendocrine neoplasms (GEP-NEN), considered a heterogeneous neoplasia, exhibit ill-defined pathobiology and protean symptomatology and are ubiquitous in location. They are difficult to diagnose, challenging to manage, and outcome depends on cell type, secretory product, histopathologic grading, and organ of origin. A morphologic and molecular genomic review of these lesions highlights tumor characteristics that can be used clinically, such as somatostatin-receptor expression, and confirms features that set them outside the standard neoplasia paradigm. Read More

    Rheb in neuronal degeneration, regeneration, and connectivity.
    Biol Chem 2017 Feb 17. Epub 2017 Feb 17.
    The small GTPase Rheb was originally detected as an immediate early response protein whose expression was induced by NMDA-dependent synaptic activity in the brain. Rheb's activity is highly regulated by its GTPase activating protein (GAP), the tuberous sclerosis complex protein, which stimulates the conversion from the active, GTP-loaded into the inactive, GDP-loaded conformation. Rheb has been established as an evolutionarily conserved molecular switch protein regulating cellular growth, cell volume, cell cycle, autophagy, and amino acid uptake. Read More

    TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
    Am J Med Genet A 2017 Mar;173(3):771-775
    Division of Medical Genetics, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.
    Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Read More

    A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy.
    Case Rep Dermatol 2017 Jan-Apr;9(1):12-19. Epub 2017 Jan 26.
    Department of Dermatology, Reinier de Graaf Gasthuis, Delft, The Netherlands.
    Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations.

    Methods: We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes. Read More

    Aberrant SYK kinase signaling is essential for tumorigenesis induced by TSC2 inactivation.
    Cancer Res 2017 Feb 15. Epub 2017 Feb 15.
    Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital
    Somatic or germline mutations in the tuberous sclerosis complex (TSC) tumor suppressor genes are associated closely with the pathogenesis of lymphangioleiomyomatosis (LAM), a rare and progressive neoplastic disease that predominantly affects women in their childbearing years. Serum levels of the lymphangiogeneic growth factor VEGF-D are elevated significantly in LAM. However, there are gaps in knowledge regarding VEGF-D dysregulation and its cellular origin in LAM. Read More

    Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide.
    Orphanet J Rare Dis 2017 Feb 15;12(1):35. Epub 2017 Feb 15.
    Sussex Kidney Unit, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK.
    Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs) and for subependymal giant astrocytoma (SEGA) in both adults and children, based on data from the EXIST-1 and EXIST-2 trials. However, due to the historical predominance of everolimus in the oncology setting, some physicians who treat TSC patients may be unfamiliar with everolimus-associated adverse events (AEs) and appropriate management strategies. Read More

    Giant renal Angiomyolipoma masquerading as a Wilms tumor.
    Indian J Urol 2017 Jan-Mar;33(1):73-75
    Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
    Renal Angiomyolipoma (AML) is not commonly seen in the pediatric age group other than patients of tuberous sclerosis where in they can have renal AMLs within the first decade with bilateral in involvement. Diagnosis of renal AML can generally be made by the current radiological modalities in the appropriate clinical setting, but it can be mistaken for other tumors when it is large and has low-fat content. Herein we report a case of giant renal AML that was initially misdiagnosed as a Wilms tumor in a 12-year-old girl. Read More

    Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex.
    J Exp Med 2017 Feb 9. Epub 2017 Feb 9.
    Department of Neurology, F.M. Kirby Center for Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115
    Disruption of myelination during development has been implicated in a range of neurodevelopmental disorders including tuberous sclerosis complex (TSC). TSC patients with autism display impairments in white matter integrity. Similarly, mice lacking neuronal Tsc1 have a hypomyelination phenotype. Read More

    Topical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up.
    Dermatol Ther (Heidelb) 2017 Feb 8. Epub 2017 Feb 8.
    Department of Dermatology, Allergology, and Venereology, Saarland University Medical Center, Homburg/Saar, Germany.
    Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement including facial angiofibromas that often appear in early childhood. Here we report the case of a 12-year-old girl with widespread disfiguring facial angiofibromas that were successfully treated with topical rapamycin, a mTOR inhibitor. A sustained remission of skin lesions was documented in detail over a 3-year follow-up. Read More

    Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.
    Clin Neurol Neurosurg 2017 Feb 1;154:104-108. Epub 2017 Feb 1.
    Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China. Electronic address:
    Objective: The study was designed to identify pathogenic TSC1 or TSC2 gene mutations and provide solid evidence for the diagnosis of tuberous sclerosis complex (TSC).

    Methods: 11 unrelated Chinese patients with TSC were investigated in the present study. Characteristic skin lesions such as hypomelanotic macules and the central nervous system features such as the epilepsy, cortical tubers and subependymal nodules were the most common symptoms that were observed in the patients. Read More

    Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas.
    Pediatr Neurol 2017 Jan 3. Epub 2017 Jan 3.
    Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, Rome, Italy.
    Background: Subependymal giant cell astrocytomas (SEGAs) are low-grade tumors affecting up to 20% of patients with tuberous sclerosis complex (TSC). Early neurosurgical resection has been the only standard treatment until few years ago when a better understanding of the molecular pathogenesis of TSC led to the use of mammalian target of rapamycin (mTOR) inhibitors. Surgical resection of SEGAs is still considered as the first line treatment in individuals with symptomatic hydrocephalus and intratumoral hemorrhage. Read More

    Multifocal micronodular pneumocyte hyperplasia (MMPH) in a patient with tuberous sclerosis-evidence for long term stability.
    Respir Med Case Rep 2017 18;20:113-115. Epub 2017 Jan 18.
    Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN 55905, United States.
    Multifocal micronodular pneumocyte hyperplasia (MMPH) is rare entity seen mostly in patients with the tuberous sclerosis complex (TSC). We present the case of a 50 year old woman with TSC (confirmed TSC2 mutation) found to have multiple ground glass opacities with an upper lobe predominance on a screening chest CT. No abnormalities were detected in other viscera. Read More

    High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.
    Sci Rep 2017 Feb 1;7:40740. Epub 2017 Feb 1.
    Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, California, USA.
    Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca(2+) signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca(2+) release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. Read More

    Nihon Hinyokika Gakkai Zasshi 2016 ;107(1):54-58
    Department of Urology, Tsuyama Chuo Hospital.
    We report a 43-year-old TSC man with repeated hemorrhage of bilateral renal AML. He was diagnosed with TSC based on the findings of facial angiofibroma, mental retardation and epilepsy in childhood. In 2011, he experienced three times in AML-associated hemorrhage from the left kidney and received selective transarterial embolotherapy (TAE). Read More

    Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
    Am J Med Genet A 2017 Mar 27;173(3):744-748. Epub 2017 Jan 27.
    Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
    Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that results from mutations within either the TSC1 gene or the TSC2 gene. Diagnosis is based on well-established clinical criteria or genetic criteria. We describe an 18-month-old boy who presented with seizures and a single hypopigmented macule. Read More

    Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons.
    Autophagy 2017 Jan 25. Epub 2017 Jan 25.
    a The F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School , Boston , MA , 02115 , USA.
    Constitutive activation of the MTOR pathway is a key feature of defects in the tuberous sclerosis complex and other genetic neurodevelopmental diseases, collectively referred to as MTORopathies. MTORC1 hyperactivity promotes anabolic cell functions such as protein synthesis, yet at the same time catabolic processes such as macroautophagy/autophagy are suppressed. Mitochondria are major substrates of autophagy; however, their role in MTORopathies remains largely undefined. Read More

    Outcomes of angioembolization and nephrectomy for renal angiomyolipoma associated with tuberous sclerosis complex: a real-world US national study.
    Curr Med Res Opin 2017 Jan 23:1-21. Epub 2017 Jan 23.
    e Le Bonheur Children's Hospital and the University of Tennessee , Memphis , TN USA.
    Objective: To examine outcomes of clinical procedures for renal angiomyolipoma associated with tuberous sclerosis complex (TSC) based on US national health claims databases.

    Methods: This retrospective cohort study selected two cohorts of TSC patients, who underwent either embolization or nephrectomy (either partial or complete) for renal angiomyolipoma in years from 2000 through 2011. Based on claims diagnosis codes, we estimated the prevalence rates of 10 angiomyolipoma-related conditions and 50 embolization- or nephrectomy-related conditions in the pre- and post-baseline periods respectively, and made cross-year and cross-period comparison of these rates with repeated measures analysis methods. Read More

    An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
    Head Neck Pathol 2017 Jan 21. Epub 2017 Jan 21.
    Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
    Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

    Long-lasting stable disease with mTOR inhibitor treatment in a patient with a perivascular epithelioid cell tumor: A case report and literature review.
    Oncol Lett 2016 Dec 6;12(6):4739-4743. Epub 2016 Oct 6.
    Division of Oncology, Rambam Health Care Campus and Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
    Perivascular epithelioid cell tumor (PEComa) of the small intestine is extremely rare, and there is no established treatment at the present time. In 10% of patients with PEComas, genetic alterations of tuberous sclerosis complex have been reported. These genetic alterations activate mechanistic target of rapamycin (mTOR) in AMP-activated protein kinase and Ras/mitogen-activated protein kinase pathways, resulting in high mTOR activity. Read More

    A Case of Proliferative Retinopathy Complicated with Tuberous Sclerosis Treated by Vitreous Surgery.
    Case Rep Ophthalmol 2016 Sep-Dec;7(3):277-283. Epub 2016 Dec 1.
    Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan.
    We report a case of proliferative retinopathy complicated with retinal hamartoma in a tuberous sclerosis patient. This study involved a 16-year-old female patient who was diagnosed as having tuberous sclerosis at birth. Ophthalmic examination revealed retinal hamartoma surrounding the optic disc in both eyes. Read More

    Lymphangioleiomyomatosis: A Monogenic Model of Malignancy.
    Annu Rev Med 2017 Jan;68:69-83
    Department of Internal Medicine, University of Cincinnati School of Medicine, Cincinnati, Ohio 45267; email:
    Lymphangioleiomyomatosis (LAM) is a rare, low-grade, metastasizing neoplasm that arises from an unknown source, spreads via the lymphatics, and targets the lungs. All pulmonary structures become infiltrated with benign-appearing spindle and epithelioid cells (LAM cells) that express smooth-muscle and melanocyte-lineage markers, harbor mTOR-activating mutations in tuberous sclerosis complex (TSC) genes, and recruit abundant stromal cells. Elaboration of lymphangiogenic growth factors and matrix remodeling enzymes by LAM cells enables their access to lymphatic channels and likely drives the cystic lung remodeling that often culminates in respiratory failure. Read More

    Posterior cortex epilepsy surgery in childhood and adolescence: Predictors of long-term seizure outcome.
    Epilepsia 2017 Jan 18. Epub 2017 Jan 18.
    Epilepsy Center Kork, Kehl-Kork, Germany.
    Objective: We aimed to investigate the long-term seizure outcome of children and adolescents who were undergoing epilepsy surgery in the parietooccipital cortex and determine their predictive factors.

    Methods: We retrospectively analyzed the data of 50 consecutive patients aged 11.1 (mean) ± 5. Read More

    Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2(+/-) Mice Is Superior to Everolimus Alone.
    Neoplasia 2017 Feb 13;19(2):112-120. Epub 2017 Jan 13.
    Institute of Medical Genetics, Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. Electronic address:
    Tuberous sclerosis (TSC) is an inherited tumor syndrome caused by mutations in TSC1 or TSC2 that lead to aberrant activation of mTOR and development of tumors in multiple organs including the kidneys. The mTOR inhibitors rapamycin and everolimus (rapalogs) have demonstrated clinical efficacy in treating TSC-associated tumors including renal angiomyolipomas. However, tumor responses are usually only partial, and regrowth occurs after drug withdrawal. Read More

    Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression.
    Nat Immunol 2017 Mar 16;18(3):293-302. Epub 2017 Jan 16.
    Center of Pathobiochemistry and Genetics, Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
    The aggregation of hypertrophic macrophages constitutes the basis of all granulomatous diseases, such as tuberculosis or sarcoidosis, and is decisive for disease pathogenesis. However, macrophage-intrinsic pathways driving granuloma initiation and maintenance remain elusive. We found that activation of the metabolic checkpoint kinase mTORC1 in macrophages by deletion of the gene encoding tuberous sclerosis 2 (Tsc2) was sufficient to induce hypertrophy and proliferation, resulting in excessive granuloma formation in vivo. Read More

    Metformin Inhibits Hepatic mTORC1 Signaling via Dose-Dependent Mechanisms Involving AMPK and the TSC Complex.
    Cell Metab 2017 Feb 12;25(2):463-471. Epub 2017 Jan 12.
    Department of Genetics and Complex Diseases, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA. Electronic address:
    Metformin is the most widely prescribed drug for the treatment of type 2 diabetes. However, knowledge of the full effects of metformin on biochemical pathways and processes in its primary target tissue, the liver, is limited. One established effect of metformin is to decrease cellular energy levels. Read More

    Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
    J Mol Diagn 2017 Mar 11;19(2):265-276. Epub 2017 Jan 11.
    Center for Neuroscience Services and Research, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Malaysia; Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Malaysia.
    Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate. Read More

    Initial experience with endoscopic ultrasonic aspirator in purely neuroendoscopic removal of intraventricular tumors.
    J Neurosurg Pediatr 2017 Jan 13:1-8. Epub 2017 Jan 13.
    Department of Pediatric Neurosurgery, Santobono-Pausilipon Children's Hospital, Naples, Italy.
    OBJECTIVE Neuroendoscopic removal of intraventricular tumors is difficult and time consuming because of the lack of an effective decompression system that can be used through the working channel of the endoscope. The authors report on the utilization of an endoscopic ultrasonic aspirator in the resection of intraventricular tumors. METHODS Twelve pediatric patients (10 male, 2 female), ages 1-15 years old, underwent surgery via a purely endoscopic approach using a Gaab rigid endoscope and endoscopic ultrasonic aspirator. Read More

    Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report.
    Urol Case Rep 2017 Feb 5;11:11-13. Epub 2017 Jan 5.
    Department of Urology, Iwate Medical University School of Medicine, Iwate, Japan.
    Here we report a case of 57-year-old woman with renal angiomyolipoma associated with tuberous sclerosis complex involving inferior vena cava thrombus. We could perform less invasive nephrectomy with thrombectomy because everolimus administration reduced the inferior vena cava thrombus. To the best of our knowledge, this is the first report the use of everolimus before performing surgery to treat renal angiomyolipoma with inferior vena cava thrombus. Read More

    Tsc1 expression by dendritic cells is required to preserve T-cell homeostasis and response.
    Cell Death Dis 2017 Jan 12;8(1):e2553. Epub 2017 Jan 12.
    State Key Laboratory of Experimental Hematology, Institute of Hematology and Hospital of Blood Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
    Dendritic cells (DCs) are pivotal to the induction of adaptive T-cell immune responses. Recent evidence highlights a critical role of tuberous sclerosis complex 1 (Tsc1), a primarily upstream negative regulator of mammalian target of rapamycin (mTOR), in DC development, but whether and how Tsc1 directly regulate mature DC function in vivo remains elusive. Here we show that selective disruption of Tsc1 in DCs results in a lymphoproliferative disorder with the spontaneous activation of T cells. Read More

    Functional tricuspid stenosis: a rare presentation of suspected rhabdomyoma as congenital cyanotic heart disease.
    Cardiol Young 2017 Jan 12:1-4. Epub 2017 Jan 12.
    Department of Cardiology,Government Medical College,Kozhikode,Kerala,India.
    Cardiac tumours in newborns are often asymptomatic and can be sporadically detected on routine screening unless they result in intractable arrhythmias or haemodynamically significant obstructions causing heart failure. Their presentation as a cause of congenital cyanosis is never anticipated. We report a rare case of a newborn presenting with congenital cyanosis consequent to suspected cardiac rhabdomyoma causing tricuspid inflow obstruction. Read More

    Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation.
    Childs Nerv Syst 2017 Jan 10. Epub 2017 Jan 10.
    Department of Pediatric Neurosurgery Dana Children's Hospital, Tel Aviv Medical Center, 6 Weizman Street, 64239, Tel Aviv, Israel.
    Introduction: Tuberous sclerosis is associated with three central nervous system pathologies: cortical/subcortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). Tubers are associated with epilepsy, which is often medication-resistant and often leads to resective surgery. Recently, mammalian target of rapamycin inhibitors (mTORi) have been shown to be effective reducing seizure burden in some patients with tuberous sclerosis complex (TSC)-related refractory epilepsy. Read More

    [Investigation on immunization program coverage rate and its safety in children with tuberous sclerosis].
    Zhonghua Er Ke Za Zhi 2017 Jan;55(1):42-45
    Department of Pediatrics, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
    Objective: To investigate the status of immunization of National Immunization Program (NIP) and its adverse reaction rate in children with tuberous sclerosis. Method: Questionnaire survey was adopted to identify the vaccination coverage and its adverse events; 72 cases of children with tuberous sclerosis and 78 normal controls (healthy children completing age-appropriate NIP) admitted to Chinese People's Liberation Army General Hospital from December 2014 to November 2015 were involved into this study. Result: The age-appropriate NIP coverage rate of tuberous sclerosis was 36%(26/72). Read More

    Partial Nephrectomy for a Massive Sporadic Renal Angiomyolipoma: Case Report and Review of the Literature.
    Case Rep Urol 2016 14;2016:3420741. Epub 2016 Dec 14.
    University of Minnesota Medical School, Minneapolis, MN, USA.
    Introduction. Angiomyolipomas are the most common benign tumor of the kidney, associated with Tuberous Sclerosis in 20% of cases and arising sporadically in 80% of cases. Renal angiomyolipomas are neoplasms of mesenchymal origin with varying proportions of vasculature, smooth muscle spindle cells, and adipocytes, making management of such neoplasms a challenging endeavor. Read More

    Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
    Urology 2017 Jan 5. Epub 2017 Jan 5.
    Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address:
    Objective: To identify the TSC1 and TSC2 mutations in patients with tuberous sclerosis complex (TSC) associated with renal lesions, and to explore the relationship between genotypes and phenotypes.

    Materials And Methods: We analyzed 43 individuals affected with TSC accompanied by renal lesions using next-generation sequencing (NGS). We also performed Sanger sequencing to validate the NGS results. Read More

    Cryptotanshinone activates AMPK-TSC2 axis leading to inhibition of mTORC1 signaling in cancer cells.
    BMC Cancer 2017 Jan 7;17(1):34. Epub 2017 Jan 7.
    School of Pharmacy, Nanjing University of Chinese Medicine, NO.138, Xianlin Avenue, Nanjing, Jiangsu Province, 210023, China.
    Background: Cryptotanshinone (CPT), a fat-soluble phenanthraquinone from Salvia miltiorrhiza Bunge, has been demonstrated to inhibit phosphorylation of p70 S6 kinase 1 (S6K1) and eukaryotic initiation factor 4E binding protein 1 (4E-BP1), a couple of direct downstream effectors of the mammalian target of rapamycin complex 1 (mTORC1), resulting in cancer cell arrested in G0 phase and subsequent inhibition of proliferation. However, its concrete molecular mechanism about how CPT inhibits mTORC1 signaling pathway is unclear.

    Methods: one solution was used to check cell viability and western blotting for determining expression of the indicated proteins. Read More

    mTOR complex 1 signalling regulates the balance between lipid synthesis and oxidation in hypoxia lymphocytes.
    Biosci Rep 2017 Feb 3;37(1). Epub 2017 Feb 3.
    Department of Rheumatology and Immunology, West China Hospital of Sichuan University, Chengdu 610041, China
    Mammalian cells adapt to different environmental conditions and alter cellular metabolic pathways to meet the energy demand for survival. Thus, the metabolic regulation of cells under special conditions, such as hypoxia, should be precisely regulated. During the metabolic regulation, mammalian target of rapamycin (mTOR) plays a vital role in the sensing of extracellular stimulations and regulating intracellular adaptations. Read More

    TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
    Orphanet J Rare Dis 2017 Jan 5;12(1). Epub 2017 Jan 5.
    UZ Brussel VUB, Brussels, Belgium.
    Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Read More

    Genetics of tuberous sclerosis complex: implications for clinical practice.
    Appl Clin Genet 2017 21;10:1-8. Epub 2016 Dec 21.
    Department of Neurology; Shriners Hospitals Pediatric Research Center, Temple University School of Medicine.
    Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features include epilepsy, autism, and intellectual disability. Read More

    mTORC1 activation downregulates FGFR3 and PTH/PTHrP receptor in articular chondrocytes to initiate osteoarthritis.
    Osteoarthritis Cartilage 2016 Dec 31. Epub 2016 Dec 31.
    Academy of Orthopedics, Guangdong Province, Department of Orthopedics, The Third Affiliated Hospital, Southern Medical University, Guangzhou, China. Electronic address:
    Objective: Articular chondrocyte activation, involving aberrant proliferation and prehypertrophic differentiation, is essential for osteoarthritis (OA) initiation and progression. Disruption of mechanistic target of rapamycin complex 1 (mTORC1) promotes chondrocyte autophagy and survival, and decreases the severity of experimental OA. However, the role of cartilage mTORC1 activation in OA initiation is unknown. Read More

    [Renal angiomyolipoma in a patient with tuberous sclerosis. Case report.]
    Arch Esp Urol 2016 Dec;69(10):715-718
    Servicio de Urología.Hospital Universitario de Cabueñes. Gijón. Asturias. España.
    Objective: To assess the importance of management and close follow-up of patients with tuberous sclerosis that associate renal angiomyolipomas.

    Methods: To report a case.

    Results: A 55 years old men with tuberous sclerosis diagnosed in childhood and later finding of bilateral giant renal masses in imaging studies, with significant compromise of renal function. Read More

    Repression of TSC1/TSC2 mediated by MeCP2 regulates human embryo lung fibroblast cell differentiation and proliferation.
    Int J Biol Macromol 2017 Mar 29;96:578-588. Epub 2016 Dec 29.
    School of Pharmacy, Anhui Medical University, 81 Meishan Road, Hefei 230032, Anhui, China. Electronic address:
    Pulmonary fibrosis (PF) is a severe inflammatory disease with limited effective treatments. It is known that the transdifferentiation of human embryo lung fibroblast (HELF) cells from pulmonary fibroblasts into myofibroblasts, contributes to the progression of pulmonary fibrogenesis. The tuberous sclerosis proteins TSC1 and TSC2 are two key signaling factors which can suppress cell growth and proliferation. Read More

    Focal cortical dysplasia: Molecular disturbances and clinicopathological classification (Review).
    Int J Mol Med 2016 Nov 29;38(5):1327-1337. Epub 2016 Sep 29.
    Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland.
    Focal cortical dysplasia (FCD) is one of the most important causes of drug-resistant epilepsy in paediatric patients, particularly in those below the age of 3. Even though over 40 years have passed since the first description of the entity by Taylor, the exact mechanisms causing these cortical abnormalities remain unelucidated. In this review, we summarise the current knowledge on clinical and histopathological aspects, taking into account the new classification system proposed by the International League Against Epilepsy. Read More

    Myelin volume fraction imaging with MRI.
    Neuroimage 2016 Dec 23. Epub 2016 Dec 23.
    Department of Biomedical Engineering, Vanderbilt University, USA; Vanderbilt University Institute of Imaging Science, Vanderbilt University, USA; Department of Radiology and Radiological Sciences, Vanderbilt University School of Medicine, USA; Department of Electrical Engineering, Vanderbilt University, USA. Electronic address:
    MRI is a valuable tool to assess myelin during development and demyelinating disease processes. While multiexponential T2 and quantitative magnetization transfer measures correlate with myelin content, neither provides the total myelin volume fraction. In many cases correlative measures are adequate; but to assess microstructure of myelin, (e. Read More

    Deficient TSC1/TSC2-complex suppression of SOX9-osteopontin-AKT signalling cascade constrains tumour growth in tuberous sclerosis complex.
    Hum Mol Genet 2016 Dec 23. Epub 2016 Dec 23.
    Department of Biochemistry & Molecular Biology, School of Basic Medicine, Anhui Medical University, Hefei, People's Republic of China
    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder featured with multi-organ benign tumours. Disruption of TSC1/TSC2 complex suppression on mammalian/mechanistic target of rapamycin (mTOR) signalling causes TSC. Hyperactive mTOR-mediated negative feedback regulation of AKT partially contributes to the benign nature of TSC-associated tumours. Read More

    Renal angiomyolipomas: At least two diseases. A series of patients treated at two European institutions.
    Eur J Surg Oncol 2016 Dec 5. Epub 2016 Dec 5.
    Department of Surgical Oncology, Institut Curie, PSL University, 26 rue d'Ulm, 75248, Paris, France. Electronic address:
    Objective: The aim of this study is to analyze the outcome of renal angiomyolipomas (AML) at two European institutions.

    Methods: The data were collected from patients with a primary AML who were treated at Gustave Roussy, Villejuif, France and Fondazione IRCCS Istituto Nazionale dei Tumori in Milan, Italy from 1998 to 2014. The specimens were classified as classic AML (C AML) or epithelioid AML (E AML) based on the percentage of epithelioid cells. Read More

    Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic.
    Can J Neurol Sci 2017 Jan;44(1):35-43
    1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
    Background: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. Read More

    Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature.
    Sultan Qaboos Univ Med J 2016 Nov 30;16(4):e520-e524. Epub 2016 Nov 30.
    Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
    Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the brain and other vital organs such as the heart, eyes, kidneys, skin and lungs. Links between autism spectrum disorder (ASD) and TSC have been postulated for many decades, with TSC considered to be one of the main syndromic causes of ASD; however, precise confirmation of a relationship between these two disorders required validated diagnostic tools. Fortunately, accurate evaluation of this relationship is now possible with standardised criteria for ASD diagnosis. Read More

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