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    8746 results match your criteria Tuberous Sclerosis

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    Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations?
    Am J Surg Pathol 2018 Apr 17. Epub 2018 Apr 17.
    Department of Pathology, University of Chicago, Chicago, IL.
    Eosinophilic solid and cystic renal cell carcinomas (ESC RCC) is a rare, unique tumor type not yet included in the World Health Organization classification of renal neoplasia. Separately, RCCs found in patients with tuberous sclerosis complex (TSC) have recently been categorized into 3 morphologic groups: RCC with a tubulopapillary architecture separated by smooth muscle stroma, chromophobe-like, and eosinophilic-microcytic type. The third classification has been identified in ∼11% of TSC-associated RCC and have histology identical to ESC RCCs. Read More

    A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions.
    Case Rep Pulmonol 2018 15;2018:5928231. Epub 2018 Feb 15.
    Students' Research Committee, Tabriz University of Medical Sciences, Tabriz, Iran.
    Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in reproductive age. Read More

    Atypical Tuberous Sclerosis Complex presenting as familial renal cell carcinoma with leiomyomatous stroma.
    J Pathol Clin Res 2018 Apr 16. Epub 2018 Apr 16.
    Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada; Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada; Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.
    We report an atypical tuberous sclerosis complex phenotype presenting as familial multiple renal cell carcinomas with (angio)leiomyomatous stroma (5/7 familial renal cell carcinomas) on a background of multiple angiomyolipomas, hypopigmented skin macules and absence of neurological anomalies. In the index case and 3 relatives, germline genetic testing identified a heterozygous TSC2 missense pathogenic variant [c.2714 G>A, (p. Read More

    Surveillance imaging for sporadic renal angiomyolipoma less than 40 mm: lessons learnt and recommendations from the experience of a large district general hospital.
    Ann R Coll Surg Engl 2018 Apr 16:1-5. Epub 2018 Apr 16.
    Department of Urology, Royal Bournemouth and Christchurch Hospitals NHS Trust , Bournemouth , UK.
    Introduction Sporadic renal angiomyolipomas, although benign in natural can cause life-threatening spontaneous haemorrhage. Surveillance of smaller lesions is recommended but there is no guidance on the surveillance interval or modality. Our aim was to study our sporadic angiomyolipoma population to determine the growth rate, factors that were associated with a higher growth rate and design a surveillance programme. Read More

    Clinicopathological investigation of odontogenic fibroma in tuberous sclerosis complex.
    Int J Oral Maxillofac Surg 2018 Apr 10. Epub 2018 Apr 10.
    Department of Radiation Oncology, Gunma University Graduate School of Medicine, Gunma, Japan.
    Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartoma and diverse systemic features. TSC1 and TSC2 are the causative genes, and mental retardation, epileptic seizures, and facial angiofibroma develop in many patients with the disease. The case of a patient with TSC who developed a central odontogenic fibroma of the mandible is reported here. Read More

    Progressive cystic lesion in a middle-aged patient with tuberous sclerosis complex: A case report.
    Medicine (Baltimore) 2018 Apr;97(15):e0407
    Department of Neurology.
    Rationale: Tuberous sclerosis complex (TSC) is an uncommon multiple systems disorder. The main characteristics of the disease in the central nervous system include cortical or subcortical tubers, subependymal nodules, and subependymal giant cell astrocytoma. However, progressive cystic lesions in the cerebral hemispheres have rarely been reported in previous studies of TSC. Read More

    Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.
    Medicine (Baltimore) 2018 Apr;97(15):e0112
    Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing Key Laboratory of Maternal-Fetal Medicine in Fetal Heart Disease.
    Although fetal cardiac rhabdomyoma can be the initial finding in patients with tuberous sclerosis complex (TSC), the challenges of precise genetic diagnosis of TSC can now be potentially overcome by new whole or targeted genomic sequencing. The goals of this study were to investigate the correlation between suspected cardiac rhabdomyoma and TSC to provide the information for a prenatal diagnosis of TSC and to validate the TSC genotype in this cohort of fetuses with suspected prenatal cardiac rhabdomyoma.We retrospectively analyzed 10,728 fetal echocardiograms from January 2013 to March 2016 in our institution. Read More

    Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study.
    Eur J Paediatr Neurol 2018 Mar 15. Epub 2018 Mar 15.
    Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, Praha 5, 150 06, Czech Republic; 2nd Faculty of Medicine, Charles University, V Úvalu 84, Praha 5, 150 06, Czech Republic. Electronic address:
    Aim: We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR).

    Method: Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy. Read More

    Metabolomic studies identify changes in transmethylation and polyamine metabolism in a brain-specific mouse model of tuberous sclerosis complex.
    Hum Mol Genet 2018 Apr 9. Epub 2018 Apr 9.
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
    Tuberous sclerosis complex (TSC) is an autosomal dominant neurodevelopmental disorder and the quintessential disorder of mTORC1 dysregulation. Loss of either causative gene, TSC1 or TSC2, leads to constitutive mTORC1 kinase activation and a pathologically anabolic state of macromolecular biosynthesis. Little is known about the organ-specific metabolic reprogramming that occurs in TSC-affected organs. Read More

    Surgically Treated Status Epilepticus due to Large Cortical Tuber and Long-Term Follow-Up Results.
    Turk Neurosurg 2018 Mar 19. Epub 2018 Mar 19.
    Izmir Katip Celebi University, Atatürk Training and Research Hospital, Department of Neurosurgery, Izmir, Turkey.
    We present a case of invasive monitoring of a patient while he was being surgically treated in the status state. Our patient was a 27-year-old male who was hospitalized for frequent seizures, which began after a head trauma at the age of 3. Video electroencephalography was performed, and 25 clinical seizures were observed in 24 h. Read More

    Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood.
    Epilepsy Behav 2018 Apr 6;83:13-21. Epub 2018 Apr 6.
    ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands; Intellectual Disability Medicine, Department of General Practice, Erasmus Medical Center, Rotterdam, The Netherlands; Department of General Pediatrics, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands; The Hartekamp Group, Care and Service for People with Intellectual Disabilities, Haarlem, The Netherlands. Electronic address:
    Introduction: Transitioning into adulthood and from pediatric services to adult healthcare are both challenging processes for young adults with rare chronic disorders such as tuberous sclerosis complex (TSC) and their parents. Adult healthcare systems are often less family-oriented and lack multidisciplinary care and experience with TSC, which can result in increased health risks and morbidity. Patient-driven data on care needs are necessary to optimize support for this vulnerable patient group. Read More

    Expanding the Histomorphologic Spectrum of TFE3 Rearranged PEComas.
    Hum Pathol 2018 Apr 4. Epub 2018 Apr 4.
    Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center and Geisel School of Medicine at Dartmouth, One Medical Center Drive, Lebanon, NH 03756. Electronic address:
    Perivascular epithelioid tumors (PEComas) are a family of mesenchymal neoplasms that have smooth muscle and melanocytic differentiation. They can be sporadic or associated with Tuberous Sclerosis Complex and commonly present in the kidney as angiomyolipoma or in the lung as pulmonary clear cell sugar tumors or lymphangioleiomyomatosis. However, they can present at any visceral or soft tissue site. Read More

    Cystic Kidney Diseases From the Adult Nephrologist's Point of View.
    Front Pediatr 2018 22;6:65. Epub 2018 Mar 22.
    Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
    Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease. However, there are various cystic kidney diseases, the onset of which occurs at different times in life and depends on the type of the disease and the causative genes involved. Read More

    Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review.
    Epileptic Disord 2018 Apr 5. Epub 2018 Apr 5.
    Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht.
    In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy. Read More

    Spontaneous Regression of Cardiac Rhabdomyoma Presenting as Severe Left Ventricular Inlet Obstruction in a Neonate with Tuberous Sclerosis.
    Case Rep Cardiol 2018 28;2018:8395260. Epub 2018 Jan 28.
    Department of Pediatrics, Chonnam National University Medical School, Chonnam National University Hospital, Gwangju, Republic of Korea.
    Cardiac rhabdomyoma can be subclinical or have a fatal presentation according to the onset age and involved site, size, and degree of invasion. Although most cardiac rhabdomyomas become smaller with time, emergency intervention is indicated when severe obstruction has occurred. In this report, we describe the spontaneous regression of a large cardiac rhabdomyoma (20. Read More

    Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma.
    Cold Spring Harb Mol Case Stud 2018 Apr 2;4(2). Epub 2018 Apr 2.
    Division of Hematology/Oncology, Mayo Clinic, Jacksonville, Florida 32224, USA.
    Everolimus, an oral inhibitor of the mammalian target of rapamycin (mTOR) pathway, is currently approved for treatment of advanced renal-cell carcinoma (RCC) after failure of initial treatment with the tyrosine kinase inhibitors. Patients with tuberous sclerosis complex (TSC) syndrome can also develop RCC primarily mediated through mTOR signaling. However, the efficacy and duration of response of mTOR inhibition in patients with TSC-associated RCC is not well known. Read More

    Pathophysiology and management of glaucoma associated with phakomatoses.
    J Neurosci Res 2018 Apr 1. Epub 2018 Apr 1.
    Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois.
    The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Read More

    Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial.
    Orphanet J Rare Dis 2018 Mar 27;13(1):43. Epub 2018 Mar 27.
    Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuaifuyuan Road, Beijing, 100730, China.
    Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which is a leading cause of TSC-related death in adult patients. The aim of the study was to evaluate the efficacy and safety profiles of everolimus in Chinese patients of TSC associated with RAML(TSC-RAML). Read More

    Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers.
    Epilepsy Behav 2018 Mar 24;82:64-67. Epub 2018 Mar 24.
    Epilepsie-Zentrum Bethel, Krankenhaus Mara, Bielefeld, Germany.
    Objective: The objective of the present study was to collect systematic data on the care of adult patients with tuberous sclerosis complex (TSC) in German epilepsy centers, to describe the characteristics of patients in this age group, and to clarify whether and how the recommended interdisciplinary care is implemented.

    Methods: This retrospective survey involved 12 major epilepsy centers in Germany. Aggregated data were collected based on an electronic questionnaire that addressed the sociodemographic data, characteristics of the epilepsy syndromes, and general healthcare setting of adult patients with TSC. Read More

    Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex.
    Neurology 2018 Mar 23. Epub 2018 Mar 23.
    From the Departments of Neurology (S.S., K.K., M.S.) and Radiology (A.K.P., B.S., S.K.W.), Boston Children's Hospital, Harvard Medical School, Boston, MA; and Department of Pediatrics (D.A.K.), Division of Neurology, Cincinnati Children's Hospital Medical Center, OH.
    Objective: In this cohort analysis, we studied 1-year-old infants with tuberous sclerosis complex (TSC), correlating volumes of cerebellar structures with neurodevelopmental measures.

    Methods: We analyzed data from a prospective biomarker study in infants with TSC (ClinicalTrials.gov NCT01780441). Read More

    Imaging findings of hereditary renal tumors, a review of what the radiologist should know.
    Eur J Radiol 2018 Apr 2;101:8-16. Epub 2018 Feb 2.
    Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
    It is estimated that up to 8% of currently diagnosed renal cancers are part of a hereditary syndrome. The radiologist may be the first person to associate a renal tumor presenting during an imaging study to other manifestations of a hereditary syndrome. This diagnosis can have broad implications for the patient but also for other family members. Read More

    Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomised EXIST-1 and EXIST-2 studies.
    J Eur Acad Dermatol Venereol 2018 Mar 23. Epub 2018 Mar 23.
    St Jude Children's Research Hospital and Le Bonheur Children's Hospital, Memphis, TN, USA.
    Background: Tuberous sclerosis complex (TSC) is a genetic disorder associated with tumour growth in various organs, including the brain, kidneys, heart, and skin. Cutaneous lesions are prevalent manifestations in TSC, occurring in up to 90% of patients. Oral mammalian target of rapamycin inhibitors, such as everolimus, are believed to be effective for treatment of TSC-associated lesions because they act on the underlying disease pathophysiology. Read More

    MTOR Suppresses Environmental Particle-Induced Inflammatory Response in Macrophages.
    J Immunol 2018 Apr 21;200(8):2826-2834. Epub 2018 Mar 21.
    Department of Respiratory and Critical Care Medicine, Key Laboratory of Respiratory Disease of Zhejiang Province, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, China; and
    Increasing toxicological and epidemiological studies have demonstrated that ambient particulate matter (PM) could cause adverse health effects including inflammation in the lung. Alveolar macrophages represent a major type of innate immune responses to foreign substances. However, the detailed mechanisms of inflammatory responses induced by PM exposure in macrophages are still unclear. Read More

    Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.
    Neuropediatrics 2018 Mar 20. Epub 2018 Mar 20.
    Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany.
    Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982-2015, and at Saarland University Medical Center [UKS], Homburg, Germany, 1998-2015) to assess prevalence and treatment of TSC associated manifestations and to evaluate if the follow-up was in line with published recommendations. This was considered if more than 15% of patients did not receive adequate examination with regard to potential organ involvement. Read More

    Metformin induces autophagy and G0/G1 phase cell cycle arrest in myeloma by targeting the AMPK/mTORC1 and mTORC2 pathways.
    J Exp Clin Cancer Res 2018 Mar 20;37(1):63. Epub 2018 Mar 20.
    Department of hematology, Rui Jin Hospital affiliated to Shanghai Jiao-Tong University School of Medicine, Shanghai, No. 197 Rui-Jin Er Road, Shanghai, 200025, China.
    Background: Metformin is a commonly used drug for the treatment of diabetes. Accumulating evidence suggests that it exerts anti-tumor effects in many cancers, including multiple myeloma (MM); however, the underlying molecular mechanisms have not been clearly elucidated.

    Methods: The anti-myeloma effects of metformin were evaluated using human MM cell lines (RPMI8226 and U266) in vitro and in vivo NOD-SCID murine xenograft MM model. Read More

    Trend of seizure remission in patients with tuberous sclerosis complex: A retrospective medical review.
    J Chin Med Assoc 2018 Mar 15. Epub 2018 Mar 15.
    School of Medicine, Chung Shan Medical University, Taichung, Taiwan, ROC; Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan, ROC. Electronic address:
    Background: Seizures in tuberous sclerosis complex (TSC) tend to be intractable over time and become a subsequent psychological burden for the patients. The purpose of the current study was to describe the onset, phenotype, and factors associated with seizure remission in patients with TSC.

    Methods: Patients diagnosed with TSC between 2009 and 2015 completed a questionnaire interview and underwent a systematic evaluation, including a medical review of their epilepsy history and neurobehavioral disorder assessment. Read More

    Tuberous Sclerosis Complex: A Classic Presentation.
    Skinmed 2018 1;16(1):55-58. Epub 2018 Feb 1.
    Department of Dermatology, Bankura Sammilani Medical College, Bankura, West Bengal, India.
    An 11-year-old girl presented with an insidiously evolving, reddish-brown, small, hard, elevated lesion, occupying the midsection of her face, which had been present since early childhood. There were also a few small white spots over the trunk. There was no history of seizures or visual deficit, and no burning on exposure to sunlight. Read More

    Clinical behavior and management of three types of renal angiomyolipomas.
    J Formos Med Assoc 2018 Mar 14. Epub 2018 Mar 14.
    Division of Urology, Department of Surgery, Chang Gung Memorial Hospital, School of Medicine, Chang Gung University, No.5, Fusing St., Gueishan, Taoyuan 333, Taiwan. Electronic address:
    Objectives: To analyze and present the demography, clinical behavior, especially the risk factors of tumor hemorrhage and management of sporadic angiomyolipoma (SAML), tuberous sclerosis complex associated angiomyolipoma (TSCAML) and epithelioid angiomyolipoma (EAML) in our institution.

    Methods: A retrospective study of 587 patients who were diagnosed with renal angiomyolipoma in our institution between January 2000 and May 2015 was done. The AMLs were diagnosed by ultrasonography, CT, or MRI. Read More

    miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma.
    Lab Invest 2018 Mar 14. Epub 2018 Mar 14.
    Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100730, Beijing, China.
    Tuberous sclerosis complex (TSC) is a genetic disorder characterized by tumor formation in multiple organs, with over 80% of TSC patients developing angiomyolipomas (TSC-AMLs). However, the molecular events that contribute to TSC-AMLs are not well understood. Recent reports have demonstrated that microRNAs (miRNAs) are critical in TSC cortical tubers. Read More

    Generation, clearance, toxicity and monitoring possibilities of unaccounted uremic toxins for improved dialysis prescriptions.
    Am J Physiol Renal Physiol 2018 Mar 14. Epub 2018 Mar 14.
    Biomedical Engineering, University of Memphis, United States.
    Current dialysis dosing calculations provide an incomplete assessment of blood purification. They do not include clearances of protein-bound uremic toxins like polyamines, p-cresol sulfate, and indoxyl sulfate, relying solely on the clearance of urea as a surrogate for all molecules accumulating in patients with end stage renal disease (ESRD). Protein-bound uremic toxins clear differently in dialysis but also during normal renal function. Read More

    CD99: A potential Diagnostic Marker for Differentiating Sub-ependymal Giant Cell Astrocytoma From Other Mimickers: A Report of Five Cases.
    Iran J Pathol 2017 1;12(3):286-290. Epub 2017 Jul 1.
    Dept of Pathology, Iran university of medical sciences, Tehran, Iran.
    Background: Tuberous sclerosis (TSC) is inherited as an autosomal dominant disease, characterized by skin lesion and tubers in vital organs, especially brain in three categories including subependymal nodules, cortical tubers and subependymal giant cell astrocytoma. Subependymal giant cell astrocytoma (SEGA) is an indolent neoplasm which usually arises at the cauda thalamic groove near foramen monro, although it occurs usually in the clinical settings of TSC, a few number of SEGA has been reported without such history. Its morphology with special cytoarchitecture could be mistaken with other glial brain tumors with similar morphology. Read More

    Is It Feasible to Identify Natural Clusters of TSC-Associated Neuropsychiatric Disorders (TAND)?
    Pediatr Neurol 2018 Apr 31;81:38-44. Epub 2018 Jan 31.
    Division of Child and Adolescent Psychiatry, University of Cape Town, South Africa. Electronic address:
    Background: Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement. The lifetime prevalence of TSC-Associated Neuropsychiatric Disorders (TAND) is in the region of 90% in an apparently unique, individual pattern. This "uniqueness" poses significant challenges for diagnosis, psycho-education, and intervention planning. Read More

    Evolution of a rare ECG pattern in an aggressive case of neonatal tuberous sclerosis complex.
    Int J Surg Case Rep 2018 23;44:197-201. Epub 2018 Feb 23.
    Department of Paediatric and Congenital Cardiac Surgery and Cardiology, Azienda Ospedaliero-Universitaria Ospedali Riuniti Ancona "Umberto I, G. M. Lancisi, G. Salesi" Ancona, via Conca n. 71, 60128 Ancona, Italy.
    Introduction: Rhabdomyomas are the most frequent cardiac tumors in children. Furthermore, they are often associated to tuberous sclerosis complex, an autosomal dominant neurocutaneous disorder characterized by tumor-like malformations that involve many organ systems.

    Presentation Of The Case: We describe a rare ECG pattern in a severe case of neonatal tuberous sclerosis complex. Read More

    TSC2 regulates microRNA biogenesis via mTORC1 and GSK3β.
    Hum Mol Genet 2018 May;27(9):1654-1663
    Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
    Tuberous sclerosis complex (TSC) is an autosomal dominant disease caused by germline inactivating mutations of TSC1 or TSC2. In TSC-associated tumors of the brain, heart, skin, kidney and lung, inactivation of both alleles of TSC1 or TSC2 leads to hyperactivation of the mTORC1 pathway. The TSC/mTORC1 pathway is a key regulator of cellular processes related to growth, proliferation and autophagy. Read More

    MTOR Suppresses Cigarette Smoke-Induced Epithelial Cell Death and Airway Inflammation in Chronic Obstructive Pulmonary Disease.
    J Immunol 2018 Apr 5;200(8):2571-2580. Epub 2018 Mar 5.
    Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, China; and
    Airway epithelial cell death and inflammation are pathological features of chronic obstructive pulmonary disease (COPD). Mechanistic target of rapamycin (MTOR) is involved in inflammation and multiple cellular processes, e.g. Read More

    FTO is involved in Alzheimer's disease by targeting TSC1-mTOR-Tau signaling.
    Biochem Biophys Res Commun 2018 03 2;498(1):234-239. Epub 2018 Mar 2.
    Department of Neurology, The First People's Hospital of Chang Zhou, Jiang Su, China; The Third Affiliated Hospital of Soochow University, China.
    Diabetes and obesity are commonly associated with Alzheimer's disease (AD). Accumulating evidence show that insulin signaling defects are protentional upstream driver of AD. However, the mechanism by which diabetes and insulin signaling defects contribute to AD remains unknown. Read More

    Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
    Eur J Paediatr Neurol 2018 May 9;22(3):419-426. Epub 2018 Feb 9.
    1st Department of Pediatrics, « Hippokratio » General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address:
    Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. Read More

    Multiple lines of inhibitory feedback on AKT kinase in Schwann cells lacking TSC1/2 hint at distinct functions of mTORC1 and AKT in nerve development.
    Commun Integr Biol 2018 12;11(1):e1433441. Epub 2018 Feb 12.
    Hunter James Kelly Research Institute, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA.
    During nerve development, Schwann cells (SCs) build multilayered myelin sheaths around axons to accelerate nerve conduction. The mechanistic target of rapamycin complex 1 (mTORC1) downstream of PI3K/AKT signaling lately emerged as a central anabolic regulator of myelination. Using mutant mice with sustained mTORC1 hyperactivity in developing SCs we recently uncovered that mTORC1 impedes developmental myelination by promoting proliferation of immature SCs while antagonizing SC differentiation. Read More

    Nox4 is a Target for Tuberin Deficiency Syndrome.
    Sci Rep 2018 Feb 28;8(1):3781. Epub 2018 Feb 28.
    Departments of Medicine/Division of Nephrology, University of Texas Health San Antonio, San Antonio, Texas, USA.
    The mechanism by which TSC2 inactivation or deficiency contributes to the pathology of tuberous sclerosis complex (TSC) is not fully clear. We show that renal angiomyolipomas from TSC patients and kidney cortex from Tsc2+/- mice exhibit elevated levels of reactive oxygen species (ROS). Downregulation of tuberin (protein encoded by TSC2 gene) in renal proximal tubular epithelial cells significantly increased ROS concomitant with enhanced Nox4. Read More

    A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex.
    J Neurodev Disord 2018 Mar 1;10(1). Epub 2018 Mar 1.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.
    Background: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies. Read More

    Synchronous subcutaneous granular cell tumours, a rare presentation.
    Ann R Coll Surg Engl 2018 Apr 27;100(4):e85-e87. Epub 2018 Feb 27.
    Department of Surgical Oncology, Fox Chase Cancer Center , Philadelphia, PA , United States.
    We describe a unique presentation of a rare disease presentation of a granular cell tumour. A 36-year-old woman presents with a large symptomatic left flank mass that had been slowly increasing in size. Multiple synchronous subcutaneous masses were found at presentation on the left breast, right auricle and right cheek. Read More

    Tuberous Sclerosis Complex with Gingival Enlargement in an Adolescent.
    J Coll Physicians Surg Pak 2018 Mar;28(3):S16-S18
    Department of Oral Maxillofacial Surgery, Dental Institute, Rajendra Institute of Medical Sciences, Ranchi, India.
    Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem genetic disorder. It is characterised by formation of benign hamartomas, neurofibromas, and angiofibromas located in different organs. We describe a case of a 13-year boy who complained of gingival enlargement. Read More

    Tuberous sclerosis complex.
    Handb Clin Neurol 2018 ;148:813-822
    Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, United States. Electronic address:
    Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. There are over 2000 known allelic variants for TSC, including nonsense and misssense mutation, and all pathogenic mutations are inactivating, leading to loss-of-function effects on the encoded proteins, TSC1 and TSC2. Read More

    Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
    J Hum Genet 2018 Feb 23. Epub 2018 Feb 23.
    St. Petersburg Pediatric Medical University, St. Petersburg, Russia.
    Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Read More

    Arginase-II activates mTORC1 through myosin-1b in vascular cell senescence and apoptosis.
    Cell Death Dis 2018 Feb 22;9(3):313. Epub 2018 Feb 22.
    Cardiovascular and Aging Research, Department of Medicine, Division of Physiology, University of Fribourg, Chemin du Musée 5, 1700, Fribourg, Switzerland.
    Type-II L-arginine:ureahydrolase, arginase-II (Arg-II), is shown to activate mechanistic target of rapamycin complex 1 (mTORC1) pathway and contributes to cell senescence and apoptosis. In an attempt to elucidate the underlying mechanism, we identified myosin-1b (Myo1b) as a mediator. Overexpression of Arg-II induces re-distribution of lysosome and mTOR but not of tuberous sclerosis complex (TSC) from perinuclear area to cell periphery, dissociation of TSC from lysosome and activation of mTORC1-ribosomal protein S6 kinase 1 (S6K1) pathway. Read More

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