المؤلفون: Pisani FM

المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 239-248 (2019)

مصطلحات موضوعية: cohesinopathies, developmental disorders, warsaw breakage syndrome, ddx11, genome stability, sister chromatid cohesion., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/spotlight-on-warsaw-breakage-syndrome-peer-reviewed-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/452fcf352ad94b478bae605f57f209dfTest

المؤلفون: Diana Santos, Mohammad Mahtab, Ana Boavida, Francesca M. Pisani

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 5; Pages: 2308

مصطلحات موضوعية: DDX11, DNA helicase, DNA replication, G-quadruplexes, sister chromatid cohesion, cohesinopathies

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Role of Xenobiotics; https://dx.doi.org/10.3390/ijms22052308Test

الإتاحة: https://doi.org/10.3390/ijms22052308Test

المؤلفون: Francesca M. Pisani, Mohammad Mahtab, Diana Santos, Ana Boavida

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 2308, p 2308 (2021)
International Journal of Molecular Sciences

مصطلحات موضوعية: DDX11, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Review, CHL1, DEAD-box RNA Helicases, lcsh:Chemistry, 0302 clinical medicine, Chromosome Segregation, lcsh:QH301-705.5, Phylogeny, Spectroscopy, Genetics, 0303 health sciences, biology, Cell Cycle, General Medicine, Chromatin, 3. Good health, Computer Science Applications, sister chromatid cohesion, Establishment of sister chromatid cohesion, Cohesin complex, DNA helicase, Chromatids, DNA replication, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Rare Diseases, cohesinopathies, Animals, Humans, Abnormalities, Multiple, Physical and Theoretical Chemistry, Molecular Biology, Gene, 030304 developmental biology, Cohesin, Organic Chemistry, DNA Helicases, Helicase, G-quadruplexes, Gene Expression Regulation, lcsh:Biology (General), lcsh:QD1-999, Mutation, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae069ff8ffdff5dbded9d8946a66f2bTest
https://www.mdpi.com/1422-0067/22/5/2308Test

المؤلفون: Najim Ameziane, Francesca M. Pisani, Erika Cantelli, Joanna L Parish, Job de Lange, Atiq Faramarz, Marjon van Slegtenhorst, Ingeborg Barišić, Jesper A. Balk, Grant S. Stewart, Martin A. Rooimans, Janne J. M. van Schie, Rob M. F. Wolthuis, Katja Dumic, Hein te Riele, Karin E. M. Diderich, Cynthia de Almeida Estéves, Anneke B. Oostra, Mohammad Mahtab

المساهمون: Clinical Genetics, Oral and Maxillofacial Surgery, Other Research, Human genetics

المصدر: Nature communications 11 (2020): 4287–4305. doi:10.1038/s41467-020-18066-8
info:cnr-pdr/source/autori:van Schie J.J.M.; Faramarz A.; Balk J.A.; Stewart G.S.; Cantelli E.; Oostra A.B.; Rooimans M.A.; Parish J.L.; de Almeida Esteves C.; Dumic K.; Barisic I.; Diderich K.E.M.; van Slegtenhorst M.A.; Mahtab M.; Pisani F.M.; te Riele H.; Ameziane N.; Wolthuis R.M.F.; de Lange J./titolo:Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion/doi:10.1038%2Fs41467-020-18066-8/rivista:Nature communications/anno:2020/pagina_da:4287/pagina_a:4305/intervallo_pagine:4287–4305/volume:11
Nature Communications, 11(1):4287. Nature Publishing Group
Nature Communications
Nature communications, 11(1):4287. Nature Publishing Group
Nature Communications, 11(1):4287. Nature Publishing Group UK
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
van Schie, J J M, Faramarz, A, Balk, J A, Stewart, G S, Cantelli, E, Oostra, A B, Rooimans, M A, Parish, J L, de Almeida Estéves, C, Dumic, K, Barisic, I, Diderich, K E M, van Slegtenhorst, M A, Mahtab, M, Pisani, F M, Te Riele, H, Ameziane, N, Wolthuis, R M F & de Lange, J 2020, ' Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion ', Nature Communications, vol. 11, no. 1, 4287, pp. 4287 . https://doi.org/10.1038/s41467-020-18066-8Test

مصطلحات موضوعية: Male, 0301 basic medicine, DDX11, General Physics and Astronomy, 02 engineering and technology, medicine.disease_cause, DEAD-box RNA Helicases, DNA repair enzymes, Genetics, DNA damage and repair, DNA synthesis, Cohesinopathies, lcsh:Science, Mutation, Multidisciplinary, biology, G-quadruplex, Protein Stability, Chemistry, Syndrome, Middle Aged, 021001 nanoscience & nanotechnology, Fanconi Anemia Complementation Group Proteins, Cell biology, Establishment of sister chromatid cohesion, 0210 nano-technology, Pseudogenes, RNA Helicases, DNA repair, Science, Mutation, Missense, Sister chromatid exchange, DNA helicase, DNA replication, Article, General Biochemistry, Genetics and Molecular Biology, Warsaw breakage syndrome, 03 medical and health sciences, medicine, Humans, Abnormalities, Multiple, Cell Proliferation, Topoisomerase, DNA Helicases, Helicase, General Chemistry, DNA Replication Fork, G-Quadruplexes, 030104 developmental biology, biology.protein, lcsh:Q, Rad51 Recombinase, Tumor Suppressor Protein p53, Sister Chromatid Exchange

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2904393f00b9ed4fde7c1c05a3cda8Test

المؤلفون: Francesca M, Pisani

المصدر: The Application of Clinical Genetics

مصطلحات موضوعية: DDX11, cohesinopathies, developmental disorders, Review, biological phenomena, cell phenomena, and immunity, Warsaw breakage syndrome, genome stability, sister chromatid cohesion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a178523bff77f533c1c59afd3ccedda5Test
https://pubmed.ncbi.nlm.nih.gov/31824187Test

المؤلفون: Pisani, Francesca M.

المصدر: Application of clinical genetics 12 (2019): 239–248. doi:10.2147/TACG.S186476
info:cnr-pdr/source/autori:Pisani, Francesca M./titolo:Spotlight on Warsaw Breakage Syndrome/doi:10.2147%2FTACG.S186476/rivista:Application of clinical genetics/anno:2019/pagina_da:239/pagina_a:248/intervallo_pagine:239–248/volume:12

مصطلحات موضوعية: DDX11, cohesinopathies, developmental disorders, biological phenomena, cell phenomena, and immunity, Warsaw breakage syndrome, genome stability, sister chromatid cohesion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=cnr_________::a718a6757c3680ba0854f7f75dbf61e6Test
https://pubmed.ncbi.nlm.nih.gov/31824187Test/