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https://www.readbyqxmd.com/read/28302666/mtorc1-signalling-mediates-pi3k-dependent-large-lipid-droplet-accumulation-in-drosophila-ovarian-nurse-cells
#1
Lawrence B Mensah, Deborah C I Goberdhan, Clive Wilson
Insulin and insulin-like growth factor signalling (IIS), which is primarily mediated by the PI3-kinase (PI3K)/PTEN/Akt kinase signalling cassette, is a highly evolutionary conserved pathway involved in co-ordinating growth, development, ageing and nutrient homeostasis with dietary intake. It controls transcriptional regulators, in addition to promoting signalling by mechanistic Target of Rapamycin (mTOR) Complex 1 (mTORC1), which stimulates biosynthesis of proteins and other macromolecules, and drives organismal growth...
March 16, 2017: Biology Open
https://www.readbyqxmd.com/read/28302202/-two-novel-tsc2-frameshift-mutations-in-tuberous-sclerosis-complex
#2
Yu-Chun Pan, Wei-Qing Wu, Jian-Sheng Xie, Cai-Qun Luo, Ying Hao
High-throughput sequencing was performed for the peripheral blood DNA from two probands in the family with tuberous sclerosis complex (TSC) to determine the sequences of TSC-related genes TSC1 and TSC2 and their splicing regions and identify mutation sites. Amplification primers were designed for the mutation sites and polymerase chain reaction and Sanger sequencing were used to verify the sequences of peripheral blood DNA from the probands and their parents. The two probands had c.3981-3982 insA (p.Asp1327AspfsX87) and c...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28302097/objective-response-to-mtor-inhibition-in-a-metastatic-collision-tumor-of-the-liver-composed-of-melanoma-and-adenocarcinoma-with-tsc1-loss-a-case-report
#3
Munveer S Bhangoo, Jenny Y Zhou, Siraj M Ali, Russell Madison, Alexa B Schrock, Carrie Costantini
BACKGROUND: Collision tumors are uncommon but well described clinical entities composed of distinct tumor histologies occurring within the same anatomic site. Optimal management of patients with collision tumors remains highly variable and depends on clinical characteristics such as the involved tumor types, predominant histology, as well as the extent of disease. Comprehensive genomic profiling is a means of identifying genomic alterations to suggest benefit from targeted therapy. CASE PRESENTATION: A 78-year-old woman presented to medical oncology with liver metastases occurring within the background of a 1-year history of uveal melanoma...
March 16, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28298732/imaging-of-tuberous-sclerosis-complex-a-pictorial-review
#4
Felipe Mussi von Ranke, Igor Murad Faria, Gláucia Zanetti, Bruno Hochhegger, Arthur Soares Souza, Edson Marchiori
Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions...
January 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28293708/inverse-gene-for-gene-interactions-contribute-additively-to-tan-spot-susceptibility-in-wheat
#5
Zhaohui Liu, Jason D Zurn, Gayan Kariyawasam, Justin D Faris, Gongjun Shi, Jana Hansen, Jack B Rasmussen, Maricelis Acevedo
Tan spot susceptibility is conferred by multiple interactions of necrotrophic effector and host sensitivity genes. Tan spot of wheat, caused by Pyrenophora tritici-repentis, is an important disease in almost all wheat-growing areas of the world. The disease system is known to involve at least three fungal-produced necrotrophic effectors (NEs) that interact with the corresponding host sensitivity (S) genes in an inverse gene-for-gene manner to induce disease. However, it is unknown if the effects of these NE-S gene interactions contribute additively to the development of tan spot...
March 14, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28288225/-clinical-and-genetic-study-patients-with-tuberous-sclerosis-complex
#6
Carla Rubilar, Francisca López, Mónica Troncoso, Andrés Barrios, Luisa Herrera
Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. OBJECTIVE: To characterize clinically and genetically patients diagnosed with TSC. PATIENTS AND METHOD: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#7
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28275690/intestinal-epithelial-specific-mtorc1-activation-enhances-intestinal-adaptation-after-small-bowel-resection
#8
Lauren Barron, Raphael C Sun, Bola Aladegbami, Christopher R Erwin, Brad W Warner, Jun Guo
BACKGROUND & AIMS: Intestinal adaptation is a compensatory response to the massive loss of small intestine after surgical resection. We investigated the role of intestinal epithelial cell-specific mammalian target of rapamycin complex 1 (i-mTORC1) in intestinal adaptation after massive small bowel resection (SBR). METHODS: We performed 50% proximal SBR on mice to study adaptation. To manipulate i-mTORC1 activity, Villin-Cre(ER) transgenic mice were crossed with tuberous sclerosis complex (TSC)1(flox/flox) or Raptor(flox/flox) mice to inducibly activate or inactivate i-mTORC1 activity with tamoxifen...
March 2017: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#9
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28265819/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-i-historical-observations-and-clinical-perspectives-on-the-etiology-of-increased-csf-protein-levels-csf-clotting
#10
REVIEW
Yosef Laviv, Burkhard S Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neuro-cutaneous manifestations as well as disease characteristic tumors. Neurofibromatosis 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. Vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with NF2 and TSC, respectively. These tumors can present with obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28250423/prevalence-of-four-mendelian-disorders-associated-with-autism-in-2392-affected-families
#11
Avi Saskin, Vanessa Fulginiti, Ashley H Birch, Yannis Trakadis
Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28250050/a-novel-mouse-model-of-anterior-segment-dysgenesis-asd-conditional-deletion-of-tsc1-disrupts-ciliary-body-and-iris-development
#12
Anna-Carin Hägglund, Iwan Jones, Leif Carlsson
Development of the cornea, lens, ciliary body and iris within the anterior segment of the eye involves coordinated interaction between cells originating from the ciliary margin of the optic cup, the overlying periocular mesenchyme and the lens epithelium. Anterior segment dysgenesis (ASD) encompasses a spectrum of developmental syndromes that affect these anterior segment tissues. ASD conditions arise as a result of dominantly inherited genetic mutations and result in both ocular-specific and systemic forms of dysgenesis that are best exemplified by aniridia and Axenfeld-Rieger syndrome, respectively...
March 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28242676/voltage-sensitive-rhodol-with-enhanced-two-photon-brightness
#13
Rishikesh U Kulkarni, Daniel J Kramer, Narges Pourmandi, Kaveh Karbasi, Helen S Bateup, Evan W Miller
We have designed, synthesized, and applied a rhodol-based chromophore to a molecular wire-based platform for voltage sensing to achieve fast, sensitive, and bright voltage sensing using two-photon (2P) illumination. Rhodol VoltageFluor-5 (RVF5) is a voltage-sensitive dye with improved 2P cross-section for use in thick tissue or brain samples. RVF5 features a dichlororhodol core with pyrrolidyl substitution at the nitrogen center. In mammalian cells under one-photon (1P) illumination, RVF5 demonstrates high voltage sensitivity (28% ΔF/F per 100 mV) and improved photostability relative to first-generation voltage sensors...
February 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28225024/rheb1-deletion-in-myeloid-cells-aggravates-ova-induced-allergic-inflammation-in-mice
#14
Kai Li, Yue Zhang, Kang Yan Liang, Song Xu, Xue Juan Zhou, Kang Tan, Jun Lin, Xiao Chun Bai, Cui Lan Yang
The small GTPase ras homolog enriched in brain (Rheb) is a downstream target of tuberous sclerosis complex 1/2 (TSC1/2) and an upstream activator of the mechanistic target of rapamycin complex 1 (mTORC1), the emerging essential modulator of M1/M2 balance in macrophages. However, the role and regulatory mechanisms of Rheb in macrophage polarization and allergic asthma are not known. In the present study, we utilized a mouse model with myeloid cell-specific deletion of the Rheb1 gene and an ovalbumin (OVA)-induced allergic asthma model to investigate the role of Rheb1 in allergic asthma and macrophage polarization...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28222202/tsc1-and-tsc2-gene-mutations-and-their-implications-for-treatment-in-tuberous-sclerosis-complex-a-review
#15
Clévia Rosset, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available. Extensive studies of the TSC1 and TSC2 genes in patients with TSC worldwide have revealed a wide spectrum of mutations...
February 20, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28215400/somatic-mutations-in-tsc1-and-tsc2-cause-focal-cortical-dysplasia
#16
Jae Seok Lim, Ramu Gopalappa, Se Hoon Kim, Suresh Ramakrishna, Minji Lee, Woo-Il Kim, Junho Kim, Sang Min Park, Junehawk Lee, Jung-Hwa Oh, Heung Dong Kim, Chang-Hwan Park, Joon Soo Lee, Sangwoo Kim, Dong Seok Kim, Jung Min Han, Hoon-Chul Kang, Hyongbum Henry Kim, Jeong Ho Lee
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, the genetic etiologies of FCDII-affected individuals who lack the MTOR mutation remain unclear. Here, we performed deep hybrid capture and amplicon sequencing (read depth of 100×-20,012×) of five important mTOR pathway genes-PIK3CA, PIK3R2, AKT3, TSC1, and TSC2-by using paired brain and saliva samples from 40 FCDII individuals negative for MTOR mutations...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28211972/tsc2-c-1864c-t-variant-associated-with-mild-cases-of-tuberous-sclerosis-complex
#17
Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup
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. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28183733/neuronal-ctgf-ccn2-negatively-regulates-myelination-in-a-mouse-model-of-tuberous-sclerosis-complex
#18
Ebru Ercan, Juliette M Han, Alessia Di Nardo, Kellen Winden, Min-Joon Han, Leonie Hoyo, Afshin Saffari, Andrew Leask, Daniel H Geschwind, Mustafa Sahin
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. However, the mechanisms that underlie these phenotypes remain unknown. In this study, we demonstrate that neuronal TSC1/2 orchestrates a program of oligodendrocyte maturation through the regulated secretion of connective tissue growth factor (CTGF)...
March 6, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28178598/novel-tsc1-and-tsc2-gene-mutations-in-chinese-patients-with-tuberous-sclerosis-complex
#19
Tingting Yu, Yingzhong He, Niu Li, Yunqing Zhou, Zhiping Wang, Qihua Fu, Jiwen Wang, Jian Wang
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...
March 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28127866/rare-familial-tsc2-gene-mutation-associated-with-atypical-phenotype-presentation-of-tuberous-sclerosis-complex
#20
Jonah Fox, Shay Ben-Shachar, Shimrit Uliel, Ran Svirsky, Hirotomo Saitsu, Naomichi Matsumoto, Aviva Fattal-Valevski
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. He did not meet consensus criteria for the clinical diagnosis of TSC. Exome sequencing revealed a heterozygous TSC2 mutation (c.5138G>A (p.Arg1713His)) in the patient. This heterozygous alteration was detected in his mother as well as several other maternal family members...
March 2017: American Journal of Medical Genetics. Part A
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