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https://www.readbyqxmd.com/read/29784808/hamartin-regulates-cessation-of-mouse-nephrogenesis-independently-of-mtor
#1
Oded Volovelsky, Thi Nguyen, Alison E Jarmas, Alexander N Combes, Sean B Wilson, Melissa H Little, David P Witte, Eric W Brunskill, Raphael Kopan
Nephrogenesis concludes by the 36th week of gestation in humans and by the third day of postnatal life in mice. Extending the nephrogenic period may reduce the onset of adult renal and cardiovascular disease associated with low nephron numbers. We conditionally deleted either Mtor or Tsc1 (coding for hamartin, an inhibitor of Mtor) in renal progenitor cells. Loss of one Mtor allele caused a reduction in nephron numbers; complete deletion led to severe paucity of glomeruli in the kidney resulting in early death after birth...
May 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#2
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29774133/sporadic-renal-angiomyolipoma-in-a-patient-with-birt-hogg-dub%C3%A3-chaperones-in-pathogenesis
#3
Rebecca A Sager, Mark R Woodford, Oleg Shapiro, Mehdi Mollapour, Gennady Bratslavsky
Birt-Hogg-Dubé (BHD) is an autosomal dominant genetic syndrome caused by germline mutations in the FLCN gene that predisposes patients to develop renal tumors. Renal angiomyolipoma (AML) is not a renal tumor sub-type associated with BHD. AML is, however, a common phenotypic manifestation of Tuberous Sclerosis Complex (TSC) syndrome caused by mutations in either the TSC1 or TSC2 tumor suppressor genes. Previous case reports of renal AML in patients with BHD have speculated on the molecular and clinical overlap of these two syndromes as a result of described involvement of the gene products in the mTOR pathway...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29764404/advanced-sporadic-renal-epithelioid-angiomyolipoma-case-report-of-an-extraordinary-response-to-sirolimus-linked-to-tsc2-mutation
#4
Marta Espinosa, Juan Maria Roldán-Romero, Ignacio Duran, Enrique de Álava, María Apellaniz-Ruiz, Alberto Cascón, Carmen Garrigos, Mercedes Robledo, Cristina Rodriguez-Antona
BACKGROUND: Renal epithelioid angiomyolipomas (EAML) are rare tumors with aggressive behavior. EAML can be sporadic or develop within the tuberous sclerosis complex syndrome, where mutations of TSC1 or TSC2 genes (critical negative regulators of mTOR Complex 1) result in an increased activation of mTOR pathway. Optimal EAML treatment, including mTOR inhibitors, remains undetermined. CASE PRESENTATION: Here we present the case of a young adult with a renal EAML that after radical nephrectomy developed metastases, first in liver and then in lumbar vertebrae...
May 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29755661/identification-of-copy-number-alterations-in-colon-cancer-from-analysis-of-amplicon-based-next-generation-sequencing-data
#5
Duarte Mendes Oliveira, Gianluca Santamaria, Carmelo Laudanna, Simona Migliozzi, Pietro Zoppoli, Michael Quist, Catie Grasso, Chiara Mignogna, Laura Elia, Maria Concetta Faniello, Cinzia Marinaro, Rosario Sacco, Francesco Corcione, Giuseppe Viglietto, Donatella Malanga, Antonia Rizzuto
The objective of this study was to determine the feasibility to detect copy number alterations in colon cancer samples using Next Generation Sequencing data and to elucidate the association between copy number alterations in specific genes and the development of cancer in different colon segments. We report the successful detection of somatic changes in gene copy number in 37 colon cancer patients by analysis of sequencing data through Amplicon CNA Algorithm. Overall, we have found a total of 748 significant copy number alterations in 230 significant genes, of which 143 showed CN losses and 87 showed CN gains...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29749758/the-role-of-mir-92b-in-cholangiocarcinoma-patients
#6
Min-Hang Zhou, Hong-Wei Zhou, Mo Liu, Jun-Zhong Sun
PURPOSE: The role of microRNA (miRNA) in cholangiocarcinoma was not clear. The aim of this study was to find the potential diagnostic and prognostic miRNA in cholangiocarcinoma patients. METHODS: The miRNA expression profiles in cholangiocarcinoma patients from The Cancer Genome Atlas and Gene Expression Omnibus (GSE53870) were analyzed. The comparison of overall survival was performed using the Kaplan-Meier method. The targeted genes of prognostic miRNA were identified in miRanda, PicTar, or TargetScan, and their cell signaling pathways were analyzed by the Database for Annotation, Visualization and Integrated Discovery...
April 1, 2018: International Journal of Biological Markers
https://www.readbyqxmd.com/read/29743490/transcriptomic-analysis-of-crustacean-molting-gland-y-organ-regulation-via-the-mtor-signaling-pathway
#7
S Shyamal, S Das, A Guruacharya, D L Mykles, D S Durica
The intermolt crustacean Y-organ (YO) maintains a basal state mediated by pulsatile release of molt inhibiting hormone (MIH), a neuropeptide produced in the eyestalk ganglia, inhibiting YO ecdysteroidogenesis. Reduction of MIH results in YO activation and the animal enters premolt. In the crab, Gecarcinus lateralis, molting was induced by eyestalk ablation (ESA). ESA animals were injected with either rapamycin, an mTOR inhibitor, or DMSO vehicle at Day 0. YOs were harvested at 1, 3, and 7 days post-ESA and processed for high throughput RNA sequencing...
May 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29740858/novel-mutations-in-chinese-han-patients-with-tuberous-sclerosis-complex-case-series-and-review-of-the-published-work
#8
Li-Yun Zheng, Yu-Wei Lee, Yang Han, Li-Li Tang, Yu-Yan Cheng, Jin-Fa Dou, Fu-Sheng Zhou, Xiao-Dong Zheng, Hong-Yan Wang, Pei-Guang Wang, Min Gao
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. This study was performed in one familial and two sporadic cases with TSC. Two novel mutations (c.1884_1887delAAAG and c.5266A>G) and two previously reported mutations (c.4258_4261delTCAG and c.1960G>C) were identified by direct DNA sequencing. Of the four mutations, c.1884_1887delAAAG and c.1960G>C were found in a family and identified in the same allele by TA cloning sequencing...
May 9, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29722913/the-tsc1-mtor-plk-axis-regulates-the-homeostatic-switch-from-schwann-cell-proliferation-to-myelination-in-a-stage-specific-manner
#9
Minqing Jiang, Rohit Rao, Jincheng Wang, Jiajia Wang, Lingli Xu, Lai Man Wu, Jonah R Chan, Huimin Wang, Q Richard Lu
Proper peripheral myelination depends upon the balance between Schwann cell proliferation and differentiation programs. The serine/threonine kinase mTOR integrates various environmental cues to serve as a central regulator of cell growth, metabolism, and function. We report here that tuberous sclerosis complex 1 (TSC1), a negative regulator of mTOR activity, establishes a stage-dependent program for Schwann cell lineage progression and myelination by controlling cell proliferation and myelin homeostasis. Tsc1 ablation in Schwann cell progenitors in mice resulted in activation of mTOR signaling, and caused over-proliferation of Schwann cells and blocked their differentiation, leading to hypomyelination...
May 3, 2018: Glia
https://www.readbyqxmd.com/read/29712777/palladin-is-a-neuron-specific-translational-target-of-mtor-signaling-that-regulates-axon-morphogenesis
#10
Yusuke Umegaki, Antonio Martinéz Brotons, Yui Nakanishi, Zhongyue Luo, Hanlu Zhang, Azad Bonni, Yoshiho Ikeuchi
The mTOR signaling pathway regulates protein synthesis and diverse aspects of neuronal morphology that are important for brain development and function. To identify proteins controlled translationally by mTOR signaling, we performed ribosome profiling analyses in mouse cortical neurons and embryonic stem cells upon acute mTOR inhibition. Among proteins whose translation was significantly affected by mTOR inhibition selectively in neurons, we identified the cytoskeletal regulator protein Palladin, which is localized within the cell body and axons in hippocampal neurons...
April 30, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29697822/renal-angiomyolipoma-in-patients-with-tuberous-sclerosis-complex-findings-from-the-tuberous-sclerosis-registry-to-increase-disease-awareness
#11
J Chris Kingswood, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D' Amato, Guillaume Beaure d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
Background: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC...
April 25, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29687738/ganglioglioma-epilepsy-and-intellectual-impairment-due-to-familial-tsc1-deletion
#12
Tal Gilboa, Reeval Segel, Sharon Zeligson, Gheona Alterescu, Hilla Ben-Pazi
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder diagnosed by clinical criteria and/or genetic testing. Genetic testing reveals atypical phenotypes that have not met clinical criteria, with practical implications. METHODS: We describe 4 family members with pathogenic partial deletion in TSC1 who individually did not meet tuberous sclerosis complex clinical criteria. RESULTS: Family members had different and atypical findings of tuberous sclerosis complex...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29677182/foxo-restricts-growth-and-differentiation-of-cells-with-elevated-torc1-activity-under-nutrient-restriction
#13
Katarzyna Nowak, Avantika Gupta, Hugo Stocker
TORC1, a central regulator of cell survival, growth, and metabolism, is activated in a variety of cancers. Loss of the tumor suppressors PTEN and Tsc1/2 results in hyperactivation of TORC1. Tumors caused by the loss of PTEN, but not Tsc1/2, are often malignant and have been shown to be insensitive to nutrient restriction (NR). In Drosophila, loss of PTEN or Tsc1 results in hypertrophic overgrowth of epithelial tissues under normal nutritional conditions, and an enhanced TORC1-dependent hyperplastic overgrowth of PTEN mutant tissue under NR...
April 20, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29669930/tsc2-deficient-tumors-have-evidence-of-t-cell-exhaustion-and-respond-to-anti-pd-1-anti-ctla-4-immunotherapy
#14
Heng-Jia Liu, Patrick H Lizotte, Heng Du, Maria C Speranza, Hilaire C Lam, Spencer Vaughan, Nicola Alesi, Kwok-Kin Wong, Gordon J Freeman, Arlene H Sharpe, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. Whether TSC-associated tumors will respond to immunotherapy is unknown. We report here that the programmed death 1 coinhibitory receptor (PD-1) is upregulated on T cells in renal angiomyolipomas (AML) and pulmonary lymphangioleiomyomatosis (LAM). In C57BL/6J mice injected with syngeneic TSC2-deficient cells, anti-PD-1 alone decreased 105K tumor growth by 67% (P < 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29666741/a-novel-mutation-in-tsc2-gene-a-34-year-old-female-with-pulmonary-lymphangioleiomyomatosis-with-concomitant-hepatic-lesions
#15
Mehdi Nadiri, Mortaza Raeisi, Seyed Ali Mousavi Aghdas
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. Different mutations in TSC1 and TSC2 genes have been reported in the literature. Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease...
2018: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29608144/inkt-cells-require-tsc1-for-terminal-maturation-and-effector-lineage-fate-decisions
#16
Jinhong Wu, Jialong Yang, Kai Yang, Hongxia Wang, Balachandra Gorentla, Jinwook Shin, Yurong Qiu, Loretta G Que, W Michael Foster, Zhenwei Xia, Hongbo Chi, Xiao-Ping Zhong
No abstract text is available yet for this article.
April 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29594878/acquired-resistance-to-an-epidermal-growth-factor-receptor-tyrosine-kinase-inhibitor-egfr-tki-in-an-uncommon-g719s-egfr-mutation
#17
Atsushi Osoegawa, Takafumi Hashimoto, Yohei Takumi, Miyuki Abe, Tomonori Yamada, Ryoji Kobayashi, Michiyo Miyawaki, Hideya Takeuchi, Tatsuro Okamoto, Kenji Sugio
Background Acquired resistance (AR) to an epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) is a common event, and several underlying mechanisms, including T790 M, MET amplification and PTEN downregulation, have been reported for the common EGFR mutations. EGFR G719X is an uncommon mutation that has been reported to show sensitivity to EGFR-TKIs. However, no established cell lines harboring the EGFR G719X have been reported in the literature. Materials and Methods G719S-GR cells were established from malignant pleural effusion of a patient whose tumor developed AR from gefitinib treatment...
March 28, 2018: Investigational New Drugs
https://www.readbyqxmd.com/read/29572283/cerebellar-volume-as-an-imaging-marker-of-development-in-infants-with-tuberous-sclerosis-complex
#18
Siddharth Srivastava, Anna K Prohl, Benoit Scherrer, Kush Kapur, Darcy A Krueger, Simon K Warfield, Mustafa Sahin
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). We included participants aged 12 months with an identified mutation of TSC1 or TSC2 . Using MRI segmentation performed with the PSTAPLE algorithm, we measured relative volumes (structure volume divided by intracranial contents volume) of the following structures: right/left cerebellar white matter, right/left cerebellar exterior, vermal lobules I-V, vermal lobules VI-VII, and vermal lobules VIII-X...
March 23, 2018: Neurology
https://www.readbyqxmd.com/read/29571618/insight-on-alpps-associating-liver-partition-and-portal-vein-ligation-for-staged-hepatectomy-mechanisms-activation-of-mtor-pathway
#19
Mario Uribe, Sebastián Uribe-Echevarría, Carlos Mandiola, María I Zapata, Francisco Riquelme, Pamela Romanque
BACKGROUND: ALPPS procedure has been introduced to increase the volume of future liver remnant. The mechanisms underlying the accelerated regeneration observed with ALPPS are unknown. It was hypothesized that AMPK/mTOR is activated as an integrating pathway for metabolic signals leading to proliferation and cell growth. Our aim was to analyze increase in liver volume, proliferation parameters and expression of AMPK/mTOR pathway-related molecules in patients undergoing ALPPS. METHODS: A single center prospective study of patients undergoing ALPPS was performed from 2013 to 2015...
March 20, 2018: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
https://www.readbyqxmd.com/read/29569084/screening-organometallic-thiophene-containing-thiosemicarbazone-ruthenium-ii-iii-complexes-as-potential-anti-tumour-agents
#20
Zehra Tavsan, Pelin Köse Yaman, Elif Subasi, Hulya Ayar Kayali
The new ruthenium (III) complex has been synthesized and characterized by elemental analysis, FT-IR, UV-Vis, EI-Mass, EPR spectroscopy, and magnetic susceptibility measurement. Cytotoxic effects of organoruthenium (II/III) complexes 1a, 1b, and 2a, and their ligands (TSC1 and TSC2 ) in cultured human ovarian (A2780, SKOV-3, and OVCAR-3) and colon (DLD, CCD18Co, and Caco-2) cells have been investigated comparing reactivity of the Ru (II/III) complexes and their free TSC ligands. The complexes exhibit higher cytotoxicity in three cancer cell lines than in normal cells...
March 22, 2018: Journal of Biological Inorganic Chemistry: JBIC
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