نتائج البحث - "ATRX, Alpha Thalassemia/mental Retardation syndrome X-linked"

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Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations

المصدر: Journal of Clinical Endocrinology and Metabolism. 106(4):1183-1194

مصطلحات موضوعية: aggressive PitNETs, ATRX (alpha thalassemia/mental retardation syndrome X-linked), Cushing's disease, pituitary adenoma, pituitary carcinoma, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology

URL الوصول: https://lup.lub.lu.se/record/4ee7be79-2f34-4156-a052-86e8d69cf9f1
http://dx.doi.org/10.1210/clinem/dgaa749

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DNA damage repair alterations modulate M2 polarization of microglia to remodel the tumor microenvironment via the p53-mediated MDK expression in glioma

المؤلفون: Jinquan Cai, Ruijia Wang, Lin Lin, Hengyuan Pang, Magafurov Dinislam, Ziwei Li, Shihong Zhao, Qun Chen, Chuanlu Jiang, Pengfei Wu, Caijun Zha, Chunbin Duan, Xiangqi Meng, Bo Han

المصدر: EBioMedicine

مصطلحات موضوعية: Research paper, DNA Repair, Cellular differentiation, medicine.medical_treatment, ATRX, alpha thalassemia/mental retardation syndrome X-linked, SAA1, serum amyloid A1, Transcriptome, Mice, 0302 clinical medicine, GSEA, gene set enrichment analysis, GME, glioma microenvironment, MEM, Minimum Essential Media, BER, base excision repair, Midkine, TNFSF4, TNF superfamily member 4, NADP, nicotinamide adenine dinucleotide phosphate, General Medicine, DSBR, DNA double-strand break repair, 030220 oncology & carcinogenesis, NHEJ, nonhomologous end joining, Microglia, IHC, immunohistochemistry, γH2AX, phosphorylated on serine 139 on H2A histone family member X, CNV, copy number variation, IL6, interleukin 6, ATM, ataxia telangiectasia-mutated gene, IGV, Integrative Genomics Viewer, MDK, midkine, KEGG, Kyoto Encyclopedia of Genes and Genomes, PI, protease inhibitor, DDR, DNA damage response, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Mrc1, mannose receptor C-type 1, NER, nucleotide excision repair, Glioma, Humans, PTEN, IF, immunofluorescence, GCM, glioma-conditioned medium, IDH, isocitrate dehydrogenase (NADP(+)), Tumor microenvironment, SSBR, DNA single-strand break repair, TMZ, temozolomide, Macrophages, medicine.disease, Mice, Inbred C57BL, body regions, 030104 developmental biology, Pen/Strep, penicillin/streptomycin, HR, homologous recombination, DAPI, 4′,6-diamidino-2-phenylindole, p53, 0301 basic medicine, ATR, Ataxia Telangiectasia And Rad3-Related Protein, qRT-PCR, Quantitative real-time reverse transcription-polymerase chain reaction, DAB, Diaminobenzidine, ChIP, Chromatin immunoprecipitation, Tumor Microenvironment, DNA damage repair, FA, Fanconi anemia, MGMT, O6-methylguanine-DNA methyltransferase, biology, LGG, lower grade glioma, TLS, trans-lesion synthesis, TP53, tumor protein P53, HRP, horseradish peroxidase, Cell Differentiation, Fizz1, found in inflammatory zone 1, SNP, single nucleotide polymorphism, TCGA, The Cancer Genome Atlas dataset, Cytokine, TNFA, tumor necrosis factor alpha, Female, Arg1, arginase 1, DNA repair, SWI/SNF, SWItch/Sucrose Non-Fermentable, MMR, mismatch repair, DMEM, Dulbecco's Modified Eagle Medium, AKT, protein kinase B, CCL2, C-C motif chemokine ligand 2, CGGA, The Chinese Glioma Genome Atlas dataset, C5, Complement C5, Cell Line, Glioma microenvironment, VEGFA, vascular endothelial growth factor A, FBS, fetal bovine serum, PBS, phosphate buffered saline, Cell Line, Tumor, medicine, Animals, ELISA, Enzyme-Linked Immunosorbent Assay, DR, direct repair, GO, gene ontology, ssGSEA, single sample gene set enrichment analysis, FC, fold change, PTEN, phosphatase and tensin homolog, EGFR, epidermal growth factor receptor, TBST, Tris-buffered Saline with Tween 20, NFκB, nuclear factor kappa B, biology.protein, Cancer research, GBM, glioblastoma, EM/PM classification, EGFR module / PDGFRA (platelet derived growth factor receptor A) -based molecular classification, Tumor Suppressor Protein p53

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae288d30336e455721de6bf5436f314b
https://doi.org/10.1016/j.ebiom.2019.01.067

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3

Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations

المساهمون: HUS Abdominal Center, University of Helsinki, Endokrinologian yksikkö

المصدر: Casar-Borota, O, Boldt, H B, Engström, B E, Andersen, M S, Baussart, B, Bengtsson, D, Berinder, K, Ekman, B, Feldt-Rasmussen, U, Höybye, C, Jørgensen, J O L, Kolnes, A J, Korbonits, M, Rasmussen, Å K, Lindsay, J R, Loughrey, P B, Maiter, D, Manojlovic-Gacic, E, Pahnke, J, Poliani, P L, Popovic, V, Ragnarsson, O, Schalin-Jäntti, C, Scheie, D, Tóth, M, Villa, C, Wirenfeldt, M, Kunicki, J & Burman, P 2021, ' Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations ', Journal of Clinical Endocrinology and Metabolism, vol. 106, no. 4 . https://doi.org/10.1210/clinem/dgaa749
Casar-Borota, O, Boldt, H B, Engström, B E, Andersen, M S, Baussart, B, Bengtsson, D, Berinder, K, Ekman, B, Feldt-Rasmussen, U, Höybye, C, Jørgensen, J O L, Kolnes, A J, Korbonits, M, Rasmussen, Å K, Lindsay, J R, Loughrey, P B, Maiter, D, Manojlovic-Gacic, E, Pahnke, J, Poliani, P L, Popovic, V, Ragnarsson, O, Schalin-Jäntti, C, Scheie, D, Tóth, M, Villa, C, Wirenfeldt, M, Kunicki, J & Burman, P 2021, ' Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 4, pp. 1183–1194 . https://doi.org/10.1210/clinem/dgaa749
Casar-Borota, O, Boldt, H B, Engström, B E, Andersen, M S, Baussart, B, Bengtsson, D, Berinder, K, Ekman, B, Feldt-Rasmussen, U, Höybye, C, Jørgensen, J O L, Kolnes, A J, Korbonits, M, Rasmussen, Å K, Lindsay, J R, Loughrey, P B, Maiter, D, Manojlovic-Gacic, E, Pahnke, J, Poliani, P L, Popovic, V, Ragnarsson, O, Schalin-Jäntti, C, Scheie, D, Tóth, M, Villa, C, Wirenfeldt, M, Kunicki, J & Burman, P 2021, ' Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 4, pp. 1183-1194 . https://doi.org/10.1210/clinem/dgaa749
The Journal of Clinical Endocrinology and Metabolism

مصطلحات موضوعية: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, pituitary adenoma, pituitary carcinoma, Biochemistry, PATHWAY, Cohort Studies, 0302 clinical medicine, Endocrinology, Gene Frequency, TELOMERES, Corticotrophs, Clinical Laboratory Medicine, Genomics, Middle Aged, Cushing’s disease, EUROPEAN-SOCIETY, 3. Good health, Europe, Klinisk laboratoriemedicin, ACTH-Secreting Pituitary Adenoma, 030220 oncology & carcinogenesis, DAXX, Cushing's disease, Female, ATRX (alpha thalassemia/mental retardation syndrome X-linked), aggressive PitNETs, Cushings disease, AcademicSubjects/MED00250, EXPRESSION, Adenoma, Adult, X-linked Nuclear Protein, medicine.medical_specialty, GENES, Adolescent, 3122 Cancers, Nonsense mutation, Context (language use), CLASSIFICATION, Young Adult, 03 medical and health sciences, Death-associated protein 6, SDG 3 - Good Health and Well-being, Pituitary adenoma, Internal medicine, ADENOMAS, medicine, Humans, Genetic Predisposition to Disease, Neoplasm Invasiveness, Pituitary Neoplasms, Clinical Research Articles, ATRX, Aged, Cancer och onkologi, business.industry, Carcinoma, Biochemistry (medical), Pituitary tumors, Cancer, AMPLIFICATION, Neuroendocrinology, medicine.disease, 030104 developmental biology, Pituitary, 3121 General medicine, internal medicine and other clinical medicine, Cancer and Oncology, Mutation, Pituitary carcinoma, Cancer research, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f436b47bb55a22af7e8dddc5af5788be
https://pure.au.dk/ws/files/274021292/dgaa749.pdf

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Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

المؤلفون: Silvia S. Costa, Eugênia Ribeiro Valadares, Angela Maria Vianna-Morgante, Carla Rosenberg, Rodrigo Rezende Arantes, Natália D. Linhares, Marta Svartman, Luiz R. Oliveira

المصدر: Meta Gene

مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, OFC, occipitofrontal circumference, CNV, copy number variation, FISH, fluorescence in situ hybridization, ATRX, alpha thalassemia/mental retardation syndrome X-linked, SLC16A2, solute carrier family 16, member 2, PCDH11X, protocadherin 11 X-linked, Biology, Bioinformatics, Short stature, Article, HDAC8, histone deacetylase 8, 03 medical and health sciences, 0302 clinical medicine, JPX, JPX transcript, Gene duplication, Genetics, medicine, PCDH11Y, protocadherin 11 Y-linked, ATRX protein, NMR, nuclear magnetic resonance, Genetics (clinical), ATRX, X chromosome, CKT, creatinine kinase-phospho-total, PCDH19, protocadherin 19, aCGH, array comparative genomic hybridization, PWS, Prader–Willi syndrome, 5-BrdU, 5-bromodeoxyuridine, Breakpoint, XIST, activator, Mitochondrial disease, CT, computed tomography, 030104 developmental biology, PCHD7, protocadherin 7, Speech delay, Xq13-q21 duplication, Differential diagnosis, medicine.symptom, Prader-Willi syndrome, PCDH11X protein, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d70a835f22f27875e65fa31f2f82900
http://europepmc.org/articles/PMC5006134

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The HSV-1 ubiquitin ligase ICP0: Modifying the cellular proteome to promote infection

المؤلفون: Joseph M Dybas, Chris Boutell, Joseph Hughes, Matthew D. Weitzman, Milagros Collados Rodriguez

المصدر: Virus Research

مصطلحات موضوعية: IFI16, IFN-γ Inducible protein 16, RING, Really Interesting New Gene, Cancer Research, viruses, HAUSP, Herpesvirus-Associated Ubiquitin-Specific Protease, TP53BP1, Tumor Protein P53 Binding Protein 1, Herpesvirus 1, Human, Daxx, Death domain Associated protein, ΔICP0, null mutant ICP0 from HSV-1, medicine.disease_cause, TPP1, TriPeptidyl Peptidase 1, ChIP, Chromatin Immuno Precipitation, HIRA, HIstone cell cycle Regulator defective homologue A, Ubiquitin, CENP, CENtromere Protein, PML-NBs, ProMyelocytic Leukaemia Nuclear Bodies, PTM, Post-Translational Modification, SUMO, Small Ubiquitin MOdifier, chemistry.chemical_classification, 0303 health sciences, IFN, InterFeroN, ATRX, Alpha Thalassemia/mental Retardation syndrome X-linked, HSV-1, Chromatin, Ubiquitin ligase, Cell biology, Infectious Diseases, Lytic cycle, FHA, ForkHead Associated, NF-κB, Nuclear Factor Kappa B, Proteome, Ubiquitin-Protein Ligases, STING, STimulator of IFN Genes, Biology, Article, Immediate-Early Proteins, 03 medical and health sciences, STAT, Signal Transducer and Activator of Transcription, Virology, vDNA, viral DNA, PML-NBs, medicine, Humans, NBS1, Nijmegen Breakage Syndrome 1 (Nibrin), IRF3, Interferon Regulatory Factor 3, 030304 developmental biology, ATM, Ataxia Telangiectasia-Mutated, PIAS, Protein Inhibitor of Activated STAT, DNA ligase, Host Microbial Interactions, MDC1, Mediator of DNA damage Checkpoint 1, 030306 microbiology, TERRA, TElomere Repeat-containing RNA, Sp100, Speckled 100 kDa, Immunity, STUbL, SUMO-Targeted Ubiquitin Ligase, Herpes Simplex, biochemical phenomena, metabolism, and nutrition, MRE11, Meiotic Recombination 11 Homolog 1, Herpes simplex virus, NLS, nuclear localization Signal, chemistry, Viral replication, ICP0, biology.protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fee1e83e77561ad7b9c20abb9897ff
https://doi.org/10.1016/j.virusres.2020.198015

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مورد إلكتروني

Corticotroph aggressive pituitary tumours and carcinomas frequently harbour ATRX mutations

مصطلحات الفهرس: ATRX (alpha thalassemia/mental retardation syndrome X-linked), Cushing’s disease, aggressive PitNETs, pituitary adenoma, pituitary carcinoma, Clinical Laboratory Medicine, Klinisk laboratoriemedicin, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-431268
Journal of Clinical Endocrinology and Metabolism, 0021-972X, 2021, 106:4, s. 1183-1194

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مورد إلكتروني

Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations.

المؤلفون: UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Casar-Borota, Olivera, Boldt, Henning Bünsow, Engström, Britt Edén, Andersen, Marianne Skovsager, Baussart, Bertrand, Bengtsson, Daniel, Berinder, Katarina, Ekman, Bertil, Feldt-Rasmussen, Ulla, Höybye, Charlotte, Jørgensen, Jens Otto L, Kolnes, Anders Jensen, Korbonits, Márta, Rasmussen, Åse Krogh, Lindsay, John R, Loughrey, Paul Benjamin, Maiter, Dominique, Manojlovic-Gacic, Emilija, Pahnke, Jens, Poliani, Pietro Luigi, Popovic, Vera, Ragnarsson, Oskar, Schalin-Jäntti, Camilla, Scheie, David, Tóth, Miklós, Villa, Chiara, Wirenfeldt, Martin, Kunicki, Jacek, Burman, Pia

المصدر: The Journal of clinical endocrinology and metabolism, Vol. 106, no.4, p. 1183-1194 (2021)

URL: http://hdl.handle.net/2078.1/260122

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دورية أكاديمية

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

المؤلفون: Linhares ND; Setor de Citogenética/Laboratório Central do Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Valadares ER; Departamento de Propedêutica Complementar, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil; Ambulatório de Erros Inatos do Metabolismo, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., da Costa SS; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Arantes RR; Ambulatório de Erros Inatos do Metabolismo, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., de Oliveira LR; Ambulatório de Erros Inatos do Metabolismo, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Rosenberg C; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Vianna-Morgante AM; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Svartman M; Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

المصدر: Meta gene [Meta Gene] 2016 Jul 07; Vol. 9, pp. 185-90. Date of Electronic Publication: 2016 Jul 07 (Print Publication: 2016).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101627670 Publication Model: eCollection Cited Medium: Print ISSN: 2214-5400 (Print) Linking ISSN: 22145400 NLM ISO Abbreviation: Meta Gene Subsets: PubMed not MEDLINE

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