المؤلفون: Gastberger K, Fincke VE, Mucha M, Siebert R, Hasselblatt M, Frühwald MC

المصدر: Cancer Management and Research, Vol Volume 15, Pp 1369-1393 (2023)

مصطلحات موضوعية: swi/snf related matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, smarcb1, atypical teratoid rhabdoid tumor, atrt, central nervous system, cns, treatment, pediatric, cell cycle, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/current-molecular-and-clinical-landscape-of-atrt--the-link-to-future-t-peer-reviewed-fulltext-article-CMARTest; https://doaj.org/toc/1179-1322Test

الوصول الحر: https://doaj.org/article/514aac6500bd46f184152c3b4d87f50aTest

المؤلفون: Dengler, N.F., Scholz, C., Beck, J., Uerschels, A.-K., Sure, U., Scheller, C., Strauss, C., Martin, D., Schackert, G., Heinen, C., Woitzik, J., McLean, A.L., Rosahl, S.K., Kolbenschlag, J., Heinzel, J., Schuhmann, M., Tatagiba, M.S., Guerra, W.K.-W., Schroeder, H.W.S., Vetrano, I.G., Ahmadi, R., Unterberg, A., Reinsch, J., Zdunczyk, A., Unteroberdoerster, M., Vajkoczy, P., Wehner, S., Becker, M., Matthies, C., Pérez-Tejón, J., Dubuisson, Annie, Barrone, D.G., Trivedi, R., Capone, C., Ferraresi, S., Kraschl, J., Kretschmer, T., Dombert, T., Staub, F., Ronellenfitsch, M., Marquardt, G., Prinz, V., Czabanka, M., Carolus, A., Braun, V., König, R., Antoniadis, G., Wirtz, C.R., Rasulic, L., Pedro, M.T.

المصدر: Neurological Research, 45 (1), 81 - 85 (2023)

مصطلحات موضوعية: neurofibroma, Peripheral nerve tumor, registry, schwannoma, leucine zipper like transcriptional regulator 1, protein, SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily B member 1, unclassified drug, adolescent, Article, cancer registry, child, cohort analysis, computer assisted tomography, female, follow up, human, male, multicenter study, neurologic examination, nuclear magnetic resonance imaging, observational study, positron emission tomography, prospective study, quality of life, standardized uptake value, systematic review, tumor volume, clinical trial, Europe

العلاقة: urn:issn:0161-6412; urn:issn:1743-1328; https://orbi.uliege.be/handle/2268/303694Test; info:hdl:2268/303694; https://orbi.uliege.be/bitstream/2268/303694/1/Rational%20and%20design%20of%20the%20peripheral%20nerve%20tumor%20registry.pdfTest; scopus-id:2-s2.0-85139653540; info:pmid:36208460

الإتاحة: https://doi.org/10.1080/01616412.2022.2129762Test
https://orbi.uliege.be/handle/2268/303694Test
https://orbi.uliege.be/bitstream/2268/303694/1/Rational%20and%20design%20of%20the%20peripheral%20nerve%20tumor%20registry.pdfTest

المؤلفون: Maija Ht Kiuru, Roslyn Rivkah Isseroff, Catherine N. Tchanque-Fossuo, Sara E. Dahle

المصدر: JAAD Case Reports

مصطلحات موضوعية: vitiligo, SMARB1, SWI/SNF–related, matrix-associated, actin-dependent regulator of chromatin subfamily B member 1, ARID1B, AT-rich interactive domain 1B gene, ARID1A, ARID1A, AT-rich interactive domain 1A gene, Case Report, Dermatology, Vitiligo, 030204 cardiovascular system & hematology, SMARCE1, SWI/SNF–related, matrix-associated, actin-dependent regulator of chromatin subfamily E member 1, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Cyclin-dependent kinase, melanoma, medicine, Coffin-Siris syndrome, CDK, cyclin-dependent kinase, 030304 developmental biology, 0303 health sciences, biology, business.industry, Melanoma, medicine.disease, Microphthalmia-associated transcription factor, ARID1B, SMARCA4, SWI/SNF–related, matrix-associated, actin-dependent regulator of chromatin subfamily A member 4, SWI/SNF, CSS, Coffin-Siris syndrome, MITF, microphthalmia transcription factor, nevi, SWI/SNF, switch/sucrose nonfermenting, biology.protein, SMARCA4, Cancer research, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f73b96e42e0258a0567d4a8dd6e3e6bTest
https://doi.org/10.1016/j.jdcr.2018.08.024Test

المؤلفون: Stenzel, P., Yu, Z., Morimoto, M., Clewing, J.M., Najafian, B., Mayfield, C., Hendson, G.

مصطلحات موضوعية: Pulmonary emphysema, autopsy, autosomal recessive disorder, child, emphysema, female, fibroblast, gene expression profiling, gene expression regulation, gene mutation, gene sequence, histopathology, human, human cell, Elastin, Schimke immuno-osseous dysplasia, SMARCAL1, Vascular disease, binding protein, elastin binding protein, genomic DNA, messenger RNA, nuclear protein, osteopontin, SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1, unclassified drug, adult, aorta, arteriosclerosis, artery

العلاقة: Orphanet Journal of Rare Diseases; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/8473Test; https://doi.org/10.1186/1750-1172-7-70Test; 2-s2.0-84866491739; WOS:000312257000001

الإتاحة: https://doi.org/10.1186/1750-1172-7-70Test
https://hdl.handle.net/11499/8473Test

المؤلفون: Emily Dunn, Caitlin Alexander, Katherine B. Puttgen, Richard J. Redett, Bruno P. Soares, Monica S. Pearl

المصدر: JAAD Case Reports
JAAD Case Reports, Vol 4, Iss 4, Pp 368-372 (2018)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Malignant rhabdoid tumor, Dermatology, Article, KHE, Kaposiform hemangioendothelioma, 03 medical and health sciences, 0302 clinical medicine, vascular, malignant rhabdoid tumor, medicine, lcsh:Dermatology, Disseminated disease, SMARCB1, medicine.diagnostic_test, business.industry, Rhabdoid tumors, congenital, Magnetic resonance imaging, lcsh:RL1-803, medicine.disease, MRI - Magnetic resonance imaging, 030104 developmental biology, pediatric, Kaposiform Hemangioendothelioma, 030220 oncology & carcinogenesis, MRT, malignant rhabdoid tumor, SMARCB1, SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatic, subfamily b member 1, business, MRI, magnetic resonance imaging

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ecbeaaa1cef6894a6cab795e5834129Test
http://europepmc.org/articles/PMC5911980Test

المؤلفون: Michel van Houdt, Ina Schim van der Loeff, Hans Janssen, Anton T.J. Tool, Evelien G. G. Sprenkeler, Taco W. Kuijpers, Mario Abinun, Karin R. Engelhardt, Angela Grainger, Sophie Hambleton

المساهمون: Graduate School, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam Reproduction & Development (AR&D)

المصدر: The Journal of Allergy and Clinical Immunology
Journal of allergy and clinical immunology, 147(6), 2381-2385.e2. Mosby Inc.
Journal of Allergy and Clinical Immunology

مصطلحات موضوعية: Cytotoxicity, Immunologic, 0301 basic medicine, Chromosomal Proteins, Non-Histone, Neutrophils, medicine.medical_treatment, CD34, Hematopoietic stem cell transplantation, 0302 clinical medicine, inborn error of immunity, Immunology and Allergy, chemotaxis, Respiratory Burst, CEBPε, CCAAT-enhancer-binding protein ε, CEBPε, biology, Brief Report, Homozygote, neutrophil-specific granule deficiency, Cell Differentiation, SMARCD2, SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2, Pedigree, 3. Good health, lactoferrin, Chemotaxis, Leukocyte, Haematopoiesis, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Myeloperoxidase, Female, Myelopoiesis, Immunology, Granulopoiesis, Immunophenotyping, Sepsis, 03 medical and health sciences, medicine, Humans, SGD, Specific granule deficiency, Genetic Predisposition to Disease, business.industry, Infant, Newborn, NADPH Oxidases, medicine.disease, 030104 developmental biology, phagocyte disorder, Mutation, biology.protein, RNA Splice Sites, Bone marrow, business, Splice-site mutation, Biomarkers, Leukocyte Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac05ce09b1371fefa175acc3798493faTest
https://doi.org/10.1016/j.jaci.2020.11.025Test

المؤلفون: Kinga Chmielewska, Żaneta Rygielska, Dominika Tempka, Paulina Tokarz, Magdalena Kluska, László Virág, Agnieszka Robaszkiewicz, Julita Pietrzak

المصدر: Redox Biology
Redox Biology, Vol 15, Iss C, Pp 316-326 (2018)

مصطلحات موضوعية: 0301 basic medicine, Cell cycle checkpoint, Lung Neoplasms, DNA Repair, Pyridines, Clinical Biochemistry, Poly (ADP-Ribose) Polymerase-1, Aminopyridines, BRCA1, breast cancer type 1 susceptibility protein, Biochemistry, Piperazines, DNA Glycosylases, PARP1, BRCA2, breast cancer type 2 susceptibility protein, SSBR, Single-strand break repair, Promoter Regions, Genetic, lcsh:QH301-705.5, BER, base excision repair, AP, apurinic/apyrimidinic site, Etoposide, lcsh:R5-920, iPARP1, inhibitor of PARP1, olaparib, Chemistry, Base excision repair, PD0332991, inhibitor of CDK4/6, palbociclib, Imbrance, CDK4/6, cyclin-dependent kinases 4 and 6, RAD51, RAD51 recombinase, HDAC1, histone deacetylase 1, Gene Expression Regulation, Neoplastic, EZH2, enhancer of zeste 2 polycomb repressive complex 2 subunit, DNA-PKcs/Ku, protein kinase, DNA-activated, catalytic polypeptide, iHDAC, inhibitor of histone deacetylases, 8-oxoguanine glycosylase (OGG1), lcsh:Medicine (General), DNAP β, DNA polymerase, beta, Research Paper, OGG1, 8-oxoguanine DNA glycosylase, NU6140, cyclin-dependent kinase 2 (CDK2) inhibitor, DNA damage, PCNA, proliferating cell nuclear antigen, FapyGua, 2,6-diamino-4-hydroxy-5-formamidopyrimidine, PARP1, poly(ADP-ribose) polymerase 1, XRCC1, X-ray repair cross complementing 1, 03 medical and health sciences, pCMV3-PARP1, A549 cells transfected with vector carrying cDNA for PARP1, expressing higher level of PARP1 than pCMV3-EMPTY upon cell cycle arrest in G1, 8-oxo-Gua, 7,8-dihydro-8-oxoguanine, Cell Line, Tumor, Humans, iPRC2, inhibitor of EZH2, UNC1999, Cell growth, iOGG1, inhibitor of OGG1, O8, Poly(ADP-ribose) polymerase 1 (PARP1), Organic Chemistry, Daunorubicin, Oxo-8-G, 8-oxo-7,8-dihydroguanosine, pCMV3-EMPTY, A549 cells transfected with control vector, expressing basal level of PARP1, Cyclin-Dependent Kinase 4, Reactive oxygen species (ROS), DNA Repair Pathway, Cell Cycle Checkpoints, Hydrogen Peroxide, iCDK4/6, inhibitor of CDK4/6, MRE11, double strand break repair nuclease, SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, 030104 developmental biology, lcsh:Biology (General), CDK2, cyclin-dependent kinase 2, LEE011, inhibitor of CDK4/6, ribociclib, Kisqali, DNA glycosylase, Purines, Cancer cell, Cancer research, NAC, N-acetyl-cysteine, HR, homologous recombination, Cyclin-dependent kinase 4 and 6 (iCDK4/6), DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6f77c1a1f3468245c3982273c155afTest
https://pubmed.ncbi.nlm.nih.gov/29306194Test

المؤلفون: Xiaoli, Xu, Zhiguo, Zheng, Lanlan, Jia, Shasha, Suo, Bowen, Liu, Tianning, Shao, Qinqing, Tu, Yuejin, Hua, Hong, Xu

المصدر: Oncology Letters

مصطلحات موضوعية: quantitative proteomics, ovarian cancer, calcium/calmodulin dependent protein kinase IIδ, SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily A member 2, Articles, cisplatin resistance, transcriptome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b4e83cce69c0a21aa4d79a20025cab48Test
https://pubmed.ncbi.nlm.nih.gov/30127991Test

المؤلفون: Sergio Verjovski-Almeida, Carlos DeOcesano-Pereira, Felipe Beckedorff, Murilo S. Amaral

المصدر: Bioscience Reports, Vol 33, Iss 4, p e00061 (2013)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Bioscience Reports

مصطلحات موضوعية: MLL, mixed-lineage leukaemia, HDM, histone demethylase, lcsh:Life, lcsh:QR1-502, Gene Expression, SMARCA2, SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, type 2 (also known as BRM), HDAC, histone deacetylase, LSD1, lysine (K)-specific demethylase 1A, Review Article, medicine.disease_cause, Biochemistry, lcsh:Microbiology, Epigenesis, Genetic, Histones, CpG, cytosine phosphodiester bond guanine, lncRNA, long non-coding RNA, HOX, homeobox, long non-coding RNAs, Neoplasms, CTBP1-AS, C-terminal binding protein 1 antisense, PSF, phosphotyrosine-binding-associated splicing factor, Cancer epigenetics, CHD, chromodomain helicase DNA-binding protein, H3K27me3, histone 3 lysine 27 trymethylated, INK4b, inhibitor of cyclin-dependent kinase 4b, ARF, ADP-ribosylation factor, ANRASSF1, antisense non-coding RNA in the RASSF1A locus, Epigenesis, Regulation of gene expression, Genetics, EZH2, enhancer of zeste homologue 2, intergenic lncRNA, lincRNA, long intergenic non-coding RNA, ANRIL, antisense non-coding RNA in the INK4 locus, Nucleosomes, Gene Expression Regulation, Neoplastic, CRC, colorectal cancer, DNA methylation, RNA, Long Noncoding, S1, PCAT-1, prostate cancer-associated ncRNA transcript 1, Biophysics, Biology, regulatory RNA, RNA-guided gene silencing, INK4a, inhibitor of cyclin-dependent kinase 4a, XCI, X chromosome inactivation, medicine, Animals, Humans, Epigenetics, LICR, Ludwig Institute for Cancer Research, Molecular Biology, Gene, RNAPII, RNA polymerase II, Cancer, RASSF1A, Ras association (RalGDS/AF-6) domain family member 1 isoform A, Cell Biology, DNA Methylation, medicine.disease, cancer epigenetics, lcsh:QH501-531, XIST, X-inactive specific transcript, RNA, AR, androgen receptor, PRC, polycomb repressive complex, HMT, histone methyltransferase, HOTAIR, homeobox antisense intergenic RNA, Carcinogenesis, intronic lncRNA, Protein Processing, Post-Translational

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac8c7f2e713646aa0543a01e0419d3bTest
http://www.bioscirep.org/bsr/033/e061/bsr033e061.htmTest

المؤلفون: François Nobili, Lawrence R. Shoemaker, David V. Milford, Mitra Basiratnia, Anna Buck, Georges Deschênes, Isabel Cordeiro, Jorge M. Saraiva, Helen Fryssira, Anja Stein, Behzad Najafian, Natasa Stajic, Laura Massella, Joel Charrow, Glenda Hendson, Umakumaran Ponniah, Thomas Lücke, M. Semin Fenkçi, Doris Taha, Elena Levtchenko, J. Marietta Clewing, Pierre Frange, Yumi Asakura, Christine Kobelka, Jean Luc André, David M. Parham, Jonathan Zonana, Radovan Bogdanovic, Justin Weinkauf, Zhongxin Yu, C. Nur Semerci, Stefan Fründ, Arend Bökenkamp, Cornelius F. Boerkoel, Salman Kirmani, Dorothea Wand, Peter Stenzel, Kory Keller, David B. Lewis, Pierre Cochat, Marie Morimoto, Christy Mayfield, Encarna Guillén-Navarro, D. Ross McLeod, Andrew K. Gormley, Petra Lamfers, Dominique Bonneau

المساهمون: Pediatric surgery, ICaR - Circulation and metabolism

المصدر: Orphanet Journal of Rare Diseases, 7:70. BioMed Central
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 70 (2012)
Morimoto, M, Yu, Z X, Stenzel, P, Clewing, J M, Najafian, B, Mayfield, C, Hendson, G, Weinkauf, J G, Gormley, A K, Parham, D M, Ponniah, U, Andre, J L, Asakura, Y, Basiratnia, M, Bogdanovic, R, Bokenkamp, A, Bonneau, D, Buck, A, Charrow, J, Cochat, P, Cordeiro, I, Deschenes, G, Fenkci, M S, Frange, P, Frund, S, Fryssira, H, Guillen-Navarro, E, Keller, K, Kirmani, S, Kobelka, C, Lamfers, P, Levtchenko, E, Lewis, D B, Massella, L, Mcleod, D R, Milford, D V, Nobili, F, Saraiva, J M, Semerci, C N, Shoemaker, L, Stajic, N, Stein, A, Taha, D, Wand, D, Zonana, J, Lucke, T & Boerkoel, C F 2012, ' Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? ', Orphanet Journal of Rare Diseases, vol. 7, 70 . https://doi.org/10.1186/1750-1172-7-70Test
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, Pathology, Nephrotic Syndrome, Arteriosclerosis, Gene mutation, Research & Experimental Medicine, GENETIC-DISEASES, fibroblast, medical record review, 0302 clinical medicine, MOUSE MODELS, nuclear protein, Genetics(clinical), Pharmacology (medical), Child, COSTELLO-SYNDROME, Genetics & Heredity, 0303 health sciences, adult, gene expression regulation, General Medicine, Hyperplasia, elastin binding protein, Immunohistochemistry, 3. Good health, emphysema, Medicine, Research & Experimental, SUPRAVALVULAR AORTIC-STENOSIS, Child, Preschool, histopathology, Autopsy, medicine.medical_specialty, gene sequence, Osteochondrodysplasias, Vascular disease, Schimke immuno-osseous dysplasia, CELL-PROLIFERATION, 03 medical and health sciences, Humans, human, protein expression, Science & Technology, autosomal recessive disorder, MUTATIONS, human cell, lcsh:R, DNA Helicases, Immunologic Deficiency Syndromes, Schimke immunoosseous dysplasia, school child, medicine.disease, major clinical study, myofibroblast, Elastin, aorta, vascular smooth muscle, smooth muscle fiber, Immunology, umbilical cord, Pulmonary Embolism, Nephrotic syndrome, 030217 neurology & neurosurgery, lung disease, genomic DNA, osteopontin, Medizin, lcsh:Medicine, preschool child, artery intima proliferation, single nucleotide polymorphism, SMARCAL1, gene mutation, Genetics (clinical), Medicine(all), messenger RNA, ELASTIN-BINDING-PROTEIN, article, artery, hyperplasia, unclassified drug, DEFICIENCY, female, Female, Life Sciences & Biomedicine, Adult, EXPRESSION, Pulmonary emphysema, Primary Immunodeficiency Diseases, binding protein, protein localization, lung parenchyma, gene expression profiling, medicine, IMMUNOOSSEOUS DYSPLASIA, 030304 developmental biology, Emphysema, business.industry, Research, human tissue, SWI SNF related matrix associated actin dependent regulator of chromatin subfamily a like 1, Dysplasia, business

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aff0e0995712e817e2e461d654ddc339Test
https://lirias.kuleuven.be/handle/123456789/653703Test