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https://www.readbyqxmd.com/read/29344236/alterations-in-expression-levels-of-genes-in-p53-related-pathways-determined-using-rna-seq-analysis-in-patients-with-breast-cancer-following-cik-therapy
#1
Zuowei Hu, Xiaoye Zhang, Hang Yang, Shuanglai Qin, Yaqi Liu, Wei Xiong, Bing Yuan, Liping Li, Weiqi Yao, Dongcheng Wu
The present study aimed at investigating the underlying molecular mechanisms for patients following cytokine-induced killer (CIK) therapy, particularly involving the alterations in p53-associated signaling pathways, to elucidate whether CIK therapy serves a function in cancer treatment. Samples of blood were collected from patients with breast cancer prior to and following CIK therapy. Two group samples were used for RNA sequencing (RNA-Seq) to determine the alterations in gene expression levels following CIK therapy and one for the quantitative polymerase chain reaction (qPCR), to analyze the reliability of RNA-Seq results...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29344138/clinical-and-genetic-analysis-of-tuberous-sclerosis-complex-associated-renal-angiomyolipoma-in-chinese-pedigrees
#2
Shuqiang Li, Yushi Zhang, Jinxing Wei, Xuepei Zhang
Tuberous sclerosis complex-associated renal angiomyolipoma (TSC-RAML) confers a high risk of bleeding and even mortality. However, data on TSC-RAML in Chinese pedigrees is extremely lacking. The present study aimed to investigate its clinical and genetic characteristics by obtaining a detailed medical history from 6 probands and their family members, and reassessing blood tests, computed tomography and renal dynamic imaging examinations that were conducted in the TSC-RAML patients. The TSC1/TSC2 mutation was detected in 2 families...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343513/using-genetic-buffering-relationships-identified-in-fission-yeast-to-reveal-susceptibilities-in-cells-lacking-hamartin-or-tuberin-function
#3
Ashyad Rayhan, Adam Faller, Ryan Chevalier, Alannah Mattice, Jim Karagiannis
Tuberous sclerosis complex is an autosomal dominant disorder characterized by benign tumors arising from the abnormal activation of mTOR signaling in cells lacking TSC1 (hamartin) or TSC2 (tuberin) activity. To expand the genetic framework surrounding this group of growth regulators, we utilized the model eukaryote Schizosaccharomyces pombe to uncover and characterize genes that buffer the phenotypic effects of mutations in the orthologous tsc1 or tsc2 loci. Our study identified two genes: fft3 (encoding a DNA helicase) and ypa1 (encoding a peptidyle-prolyl cis/trans isomerase)...
January 17, 2018: Biology Open
https://www.readbyqxmd.com/read/29339522/effect-of-beta-agonists-on-lam-progression-and-treatment
#4
Kang Le, Wendy K Steagall, Mario Stylianou, Gustavo Pacheco-Rodriguez, Thomas N Darling, Martha Vaughan, Joel Moss
Lymphangioleiomyomatosis (LAM), a rare disease of women, is associated with cystic lung destruction resulting from the proliferation of abnormal smooth muscle-like LAM cells with mutations in the tuberous sclerosis complex (TSC) genes TSC1 and/or TSC2 The mutant genes and encoded proteins are responsible for activation of the mechanistic target of rapamycin (mTOR), which is inhibited by sirolimus (rapamycin), a drug used to treat LAM. Patients who have LAM may also be treated with bronchodilators for asthma-like symptoms due to LAM...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#5
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29329496/positive-feedback-regulation-of-subchondral-h-type-vessel-formation-by-chondrocyte-promotes-osteoarthritis-development-in-mice
#6
Jiansen Lu, Haiyan Zhang, Daozhang Cai, Chun Zeng, Pinglin Lai, Yan Shao, Hang Fang, Delong Li, Jiayao Ouyang, Chang Zhao, Denghui Xie, Bin Huang, Jian Yang, Yu Jiang, Xiaochun Bai
Vascular-invasion-mediated interactions between activated articular chondrocytes and subchondral bone are essential for osteoarthritis (OA) development. Here, we determined the role of nutrient sensing mechanistic target of rapamycin complex 1 (mTORC1) signaling in the crosstalk across the bone cartilage interface and its regulatory mechanisms. Then mice with chondrocyte-specific mTORC1 activation (Tsc1 CKO and Tsc1 CKOER ) or inhibition (Raptor CKOER ) and their littermate controls were subjected to OA induced by destabilization of the medial meniscus (DMM) or not...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29323708/microrna501-5p-induces-p53-proteasome-degradation-through-the-activation-of-the-mtor-mdm2-pathway-in-adpkd-cells
#7
Lucia de Stephanis, Alessandra Mangolini, Miriam Servello, Peter C Harris, Lucio Dell'Atti, Paolo Pinton, Gianluca Aguiari
Cell proliferation and apoptosis are typical hallmarks of autosomal dominant polycystic kidney disease (ADPKD) and cause the development of kidney cysts that lead to end-stage renal disease (ESRD). Many factors, impaired by polycystin complex loss of function, may promote these biological processes, including cAMP, mTOR and EGFR signalling pathways. In addition, microRNAs (miRs) may also regulate the ADPKD related signalling network and their dysregulation contributes to disease progression. However, the role of miRs in ADPKD pathogenesis has not been fully understood, but also the function of p53 is quite obscure, especially its regulatory contribution on cell proliferation and apoptosis...
January 11, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29321190/genomic-landscape-of-pancreatic-neuroendocrine-tumours-the-international-cancer-genome-consortium
#8
Andrea Mafficini, Aldo Scarpa
Neuroendocrine tumours (NETs) may arise throughout the body and are a highly heterogeneous, relatively rare class of neoplasms difficult to study also for the lack of disease models. Despite this, knowledge on their molecular alterations has expanded in the latest years, also building from genetic syndromes causing their onset. Pancreatic NETs (PanNETs) have been among the most studied, and research so far has outlined a series of recurring features, as inactivation of MEN1, VHL, TSC1/2 genes, and hyperactivation of the PI3K/mTOR pathway...
January 10, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29314583/novel-mutations-and-phenotypes-of-epilepsy-associated-genes-in-epileptic-encephalopathies
#9
Peng Zhou, Na He, Jing-Wen Zhang, Zhi-Jian Lin, Jie Wang, Li-Min Yan, Heng Meng, Bin Tang, Bing-Mei Li, Xiao-Rong Liu, Yi-Wu Shi, Qiong-Xiang Zhai, Yong-Hong Yi, Wei-Ping Liao
Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty-three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic/likely pathogenic with clinical concordance...
January 4, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29287601/mtor-inhibition-improves-the-immunomodulatory-properties-of-human-bone-marrow-mesenchymal-stem-cells-by-inducing-cox-2-and-pge2
#10
Binsheng Wang, Yu Lin, Yongxian Hu, Wei Shan, Senquan Liu, Yulin Xu, Hao Zhang, Shuyang Cai, Xiaohong Yu, Zhen Cai, He Huang
BACKGROUND: Bone marrow mesenchymal stem cells (MSCs) are promising candidates for the treatment of various inflammatory disorders due to their profound immunomodulatory properties. However, the immunosuppressive capacity of MSCs needs activation by an inflammatory microenvironment, which may negatively impact the therapeutic effect because of increased immunogenicity. Here we explore the role of mammalian target of rapamycin (mTOR) signaling on the immunosuppressive capacity of MSCs, and its impact on immunogenicity in the inflammatory microenvironment...
December 29, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29285181/correlation-between-tsc1-gene-polymorphism-and-epilepsy
#11
Xiuli Jiang, Jiajia Chen, Quanjiang Song, Weiling Wang, Guangyan Zhang, Ye Li
The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same period were selected as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the polymorphism of TSC1 gene in the above study subjects. The mRNA expression of TSC1 gene in the observation group and the control group was measured by fluorescence quantitative PCR, the expression of TSC1 protein in the control and observation group was measured by western blotting and ELISA...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#12
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29281825/somatic-mutations-activating-the-mtor-pathway-in-dorsal-telencephalic-progenitors-cause-a-continuum-of-cortical-dysplasias
#13
Alissa M D'Gama, Mollie B Woodworth, Amer A Hossain, Sara Bizzotto, Nicole E Hatem, Christopher M LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A James Barkovich, David J Kwiatkowski, Harry V Vinters, Joseph R Madsen, Gary W Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A Walsh
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 of 66 cases (41%). Radiographically indistinguishable lesions are caused by somatic activating mutations in AKT3, MTOR, and PIK3CA and germline loss-of-function mutations in DEPDC5, NPRL2, and TSC1/2, including TSC2 mutations in isolated HME demonstrating a "two-hit" model...
December 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/29261847/tsc1-mutations-in-keratoconus-patients-with-or-without-tuberous-sclerosis
#14
Yelena Bykhovskaya, Majid Fardaei, Mariam Lotfy Khaled, Mahmood Nejabat, Ramin Salouti, Hassan Dastsooz, Yutao Liu, Soroor Inaloo, Yaron S Rabinowitz
Purpose: To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC. Methods: Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confirmed by Sanger DNA sequencing. Whole exome sequencing (WES) was performed in patients with nonsyndromic KC...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29236566/genome-profile-in-a-extremely-rare-case-of-pulmonary-sclerosing-pneumocytoma-presenting-with-diffusely-scattered-nodules-in-the-right-lung
#15
Xiangshan Fan, Ling Lin, Jianjun Wang, Yu Wang, Anning Feng, Ling Nie, Hongyan Wu, Fanqing Meng, Haodong Xu
BACKGROUND: Pulmonary sclerosing pneumocytoma (PSP) typically presents solitary and peripheral mass, while only rarely cases display unusual multiple lesions. We reported a extremely rare case of PSP with diffusely-scattered nodules in the right lung. CASE PRESENTATION: Diffusely round-shaped nodular shadows in the right lung were found by CT scan in a 31-year-old Chinese woman. The patient undergone the right pneumnectomy. Grossly, numerous small nodules, up to 2...
December 13, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29233531/genomic-landscape-of-ovarian-clear-cell-carcinoma-via-whole-exome-sequencing
#16
Se Ik Kim, Ji Won Lee, Maria Lee, Hee Seung Kim, Hyun Hoon Chung, Jae-Weon Kim, Noh Hyun Park, Yong-Sang Song, Jeong-Sun Seo
OBJECTIVE: To analyze whole exome sequencing (WES) data on ovarian clear cell carcinoma (OCCC) in Korean patients via the technique of next generation sequencing (NGS). Genomic profiles were compared between endometriosis-associated OCCC (EMS-OCCC) and Non-EMS-OCCC. METHODS: We used serum samples and cancer tissues, stored at the Seoul National University Hospital Human Biobank, that were initially collected from women diagnosed with OCCC between 2012 and 2016. In total, 15 patients were enrolled: 5 with pathologically confirmed EMS-OCCC and 10 with Non-EMS-OCCC...
December 9, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29230685/calcitriol-reverses-the-down-regulation-pattern-of-tuberous-sclerosis-complex-genes-in-an-in-vitro-calcification-model
#17
Eraldo Fonseca Dos Santos Junior, Roberta Rodrigues de Lemos Gitirana, Darlene Paiva Bezerra, João Ricardo Mendes de Oliveira
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with autosomal dominant inheritance, and most of the cases are related to loss of function of the TSC1 and TSC2 genes. TSC may occur with a wide range of clinical findings and skin, kidney, brain, and heart are the most commonly affected organs. Brain calcifications in TSC are also described and reported as diffuse and without pattern of symmetry or bilaterality. Recently, a new discovery opened the possibility of using vitamin D (VitD) for treating cerebral calcifications...
December 11, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29221145/subependymal-giant-cell-astrocytomas-in-tuberous-sclerosis-complex-have-consistent-tsc1-tsc2-biallelic-inactivation-and-no-braf-mutations
#18
Anika Bongaarts, Krinio Giannikou, Roy J Reinten, Jasper J Anink, James D Mills, Floor E Jansen, G M Wim Spliet, Willfred F A den Dunnen, Roland Coras, Ingmar Blümcke, Werner Paulus, Theresa Scholl, Martha Feucht, Katarzyna Kotulska, Sergiusz Jozwiak, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Figen Söylemezoğlu, José Pimentel, Mark Nellist, Antoinette Y N Schouten-van Meeteren, Anwesha Nag, Angelika Mühlebner, David J Kwiatkowski, Eleonora Aronica
Subependymal giant cell astrocytomas (SEGAs) are rare, low-grade glioneuronal brain tumors that occur almost exclusively in patients with tuberous sclerosis complex (TSC). Though histologically benign, SEGAs can lead to serious neurological complications, including hydrocephalus, intractable seizures and death. Previous studies in a limited number of SEGAs have provided evidence for a biallelic two-hit inactivation of either TSC1 or TSC2, resulting in constitutive activation of the mechanistic target of rapamycin complex 1 pathway...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29215029/mtorc1-signaling-is-a-critical-regulator-of-postnatal-tendon-development
#19
Joohyun Lim, Elda Munivez, Ming-Ming Jiang, I-Wen Song, Francis Gannon, Douglas R Keene, Ronen Schweitzer, Brendan H Lee, Kyu Sang Joeng
Tendons transmit contractile forces between musculoskeletal tissues. Whereas the biomechanical properties of tendons have been studied extensively, the molecular mechanisms regulating postnatal tendon development are not well understood. Here we examine the role of mTORC1 signaling in postnatal tendon development using mouse genetic approaches. Loss of mTORC1 signaling by removal of Raptor in tendons caused severe tendon defects postnatally, including decreased tendon thickness, indicating that mTORC1 is necessary for postnatal tendon development...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29210524/tsc1-enables-plastid-development-under-dark-conditions-contributing-to-rice-adaptation-to-transplantation-shock
#20
Xiaoliang Shi, Sunlu Chen, Yu Peng, Yufeng Wang, Jiugeng Chen, Zhanghua Hu, Baohe Wang, Aihong Li, Daiyin Chao, Yuhong Li, Sheng Teng
Since its domestication from wild rice thousands of years ago, rice has been cultivated largely through transplantation. During transplantation from the nursery to the paddy field, rice seedlings experience transplantation shock which affects their physiology and production. However, the mechanisms underlying transplantation shock and rice adaptation to this shock are largely unknown. Here, we isolated a transplant-sensitive chloroplast-deficient (tsc1) rice mutant that produces albino leaves after transplantation...
December 6, 2017: Journal of Integrative Plant Biology
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