المؤلفون: Bente Benedict, Hein te Riele, Anneke B. Oostra, Janne J. M. van Schie, Rob M. F. Wolthuis, Jesper A. Balk, Job de Lange

المساهمون: Human genetics, CCA - Cancer biology and immunology, Oral and Maxillofacial Surgery, Other Research

المصدر: Developmental Cell, 52(6), 683-698.e7. Cell Press
Benedict, B, van Schie, J J M, Oostra, A B, Balk, J A, Wolthuis, R M F, Riele, H T & de Lange, J 2020, ' WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion ', Developmental Cell, vol. 52, no. 6, pp. 683-698.e7 . https://doi.org/10.1016/j.devcel.2020.01.024Test
Developmental cell, 52(6), 683-698.e7. Cell Press

مصطلحات موضوعية: DNA Replication, Genome instability, Chromosomal Proteins, Non-Histone, DNA repair, STAG2, oncogene-induced cohesion loss, Cell Cycle Proteins, Chromatids, Biology, General Biochemistry, Genetics and Molecular Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, Proto-Oncogene Proteins, KRAS, cohesinopathies, Animals, Humans, Sister chromatids, Molecular Biology, Metaphase, Cells, Cultured, 030304 developmental biology, 0303 health sciences, Cohesin, Cell growth, DNA replication, Nuclear Proteins, DNA double strand breaks, Cell Biology, DNA replication stress, Cell biology, sister chromatid cohesion, Establishment of sister chromatid cohesion, HEK293 Cells, WAPL, ras Proteins, RAD51, biological phenomena, cell phenomena, and immunity, Carrier Proteins, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c192ac2928199eade74f6e1f8dd1387aTest
https://research.vumc.nl/en/publications/7e131367-b0d7-44c9-be9c-eaa2cefff403Test

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: Sureni V. Mullegama, Eric Vilain, Steven D Klein, Julian A. Martinez-Agosto, Rebecca Signer

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Cohesin complex, STAG2, DNA repair, Developmental Disabilities, cohesin‐associated genes, reanalysis, X‐linked gene, Mutation, Missense, Cell Cycle Proteins, 030105 genetics & heredity, SMC1A, Biology, Short stature, Clinical Reports, 03 medical and health sciences, cohesinopathies, Genetics, medicine, Humans, Missense mutation, Molecular Biology, human growth, Growth Disorders, Genetics (clinical), Exome sequencing, Clinical Report, cohesin complex, neurodevelopment, clinical exome sequencing, Antigens, Nuclear, Genetic Diseases, X-Linked, Syndrome, Phenotype, Establishment of sister chromatid cohesion, Polydactyly, 030104 developmental biology, Child, Preschool, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028860ff8b30b0c0cb35becaddf0b81cTest
https://doi.org/10.1002/mgg3.501Test

المؤلفون: Gunjan D. Mehta, Ravinder Kumar, Sanjeeva Srivastava, Santanu K. Ghosh

المصدر: FEBS Letters. 587:2299-2312

مصطلحات موضوعية: Chromosomal Proteins, Non-Histone, Condensation, Biophysics, DNA repair, Cell Cycle Proteins, Sister chromatid exchange, Biology, Biochemistry, Structural Biology, Centromere, Genetics, Animals, Humans, Cohesinopathies, Sister chromatids, Molecular Biology, Cohesin, Kinetochore, Cell Biology, Spindle apparatus, Establishment of sister chromatid cohesion, Meiosis, biological phenomena, cell phenomena, and immunity, Separase, Sister Chromatid Exchange, Transcription, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca3385e3f21a713d647e9ec973ee9d0Test
https://doi.org/10.1016/j.febslet.2013.06.035Test