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: Buskirk, Sean, Skibbens, Robert V.

المصدر: Biology Faculty Publications

مصطلحات موضوعية: G1 Cyclin, Cln2, Eco1, ESCO2, sister chromatid cohesion, chromosome condensation, Roberts syndrome (RBS), Cornelia de Lange syndrome (CdLS), cohesinopathies, Genetics

وصف الملف: application/pdf

العلاقة: https://digitalcommons.wcupa.edu/bio_facpub/75Test; https://digitalcommons.wcupa.edu/cgi/viewcontent.cgi?article=1076&context=bio_facpubTest

الإتاحة: https://digitalcommons.wcupa.edu/bio_facpub/75Test
https://digitalcommons.wcupa.edu/cgi/viewcontent.cgi?article=1076&context=bio_facpubTest

المؤلفون: Annie C. Sanchez (11912927), Elise D. Thren (11912930), M. Kathryn Iovine (11912933), Robert V. Skibbens (8283201)

مصطلحات موضوعية: Biophysics, Medicine, Cell Biology, Genetics, Molecular Biology, Pharmacology, Biotechnology, Developmental Biology, Infectious Diseases, Plant Biology, Computational Biology, Roberts syndrome (RBS), cornelia de lange syndrome (Cdls), cohesinopathies, thalidomide, birth defects, CRL4 ubiquitin ligase

العلاقة: https://figshare.com/articles/dataset/Esco2_and_cohesin_regulate_CRL4_ubiquitin_ligase_i_ddb1_i_expression_and_thalidomide_teratogenicity/17919095Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17919095.v1Test

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: Leah Slattery, Emma L. Baple, Hilde Van Esch, Eyby Leon, Farida Abid, Margaret P. Adam, Bo Yuan, Cecilie F. Rustad, Amy M. Breman, Juanita Neira, Weimin Bi, Weihong Jin, Olivia Wenger, Yaping Yang, Jill A. Rosenfeld, John Dean, Laura Jenkins, Jennifer E. Posey, Chin-To Fong, Christian P. Schaaf, Asbjørg Stray-Pedersen, Lettie E. Rawlins, Teresa Santiago-Sim, Marguerite Pietryga, Linda A. Ramsdell, Sau Wai Cheung, Jullianne Diaz, Davut Pehlivan, Laura Martin, Andrew H. Crosby, Chad A. Shaw, Christine M. Eng, Louanne Hudgins, Pengfei Liu, Dorothy K. Grange, Suneeta Madan-Khetarpal, James R. Lupski, LaDonna Immken, Alison A. Bertuch, Marianne McGuire, Kristian Tveten, Xiaofei Song, Scott E. Hickey, Rui Xiao, Vipulkumar Patel, Janice L. Smith

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Cornelia de Lange Syndrome, Adolescent, Chromosomal Proteins, Non-Histone, STAG2, STAG1, Cell Cycle Proteins, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Article, Cohort Studies, Genetic Heterogeneity, 03 medical and health sciences, Gene Frequency, INDEL Mutation, Locus heterogeneity, De Lange Syndrome, Proto-Oncogene Proteins, Exome Sequencing, medicine, Humans, Exome, clinical exome sequencing (CES), Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Retrospective Studies, Genetics, Genetic heterogeneity, Nuclear Proteins, Antigens, Nuclear, Atypical cohesinopathies, NIPBL, medicine.disease, Human genetics, 3. Good health, Phenotype, cohesin pathway, 030104 developmental biology, Biological Variation, Population, Child, Preschool, Mutation, Female, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57184ef43052f23758e3c52e4ff202e3Test
https://doi.org/10.1038/s41436-018-0085-6Test

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

المؤلفون: Jennifer L. Gerton

المصدر: Nucleus

مصطلحات موضوعية: Cohesin complex, Chromosomal Proteins, Non-Histone, Ectromelia, Ribosome biogenesis, cohesin, translation, Cell Cycle Proteins, Biology, Chromosomes, Chromosome segregation, Craniofacial Abnormalities, Transcription (biology), Acetyltransferases, Chromosome Segregation, De Lange Syndrome, Gene expression, cohesinopathies, Humans, nucleolus, Enhancer, Genetics, Cohesin, Hypertelorism, Extra View, Promoter, Cell Biology, ribosome, Chondroitin Sulfate Proteoglycans, Protein Biosynthesis, Mutation, biological phenomena, cell phenomena, and immunity, Ribosomes, Cell Nucleolus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b4466a6c0bd3471f157bfea3064c92Test
http://europepmc.org/articles/PMC3515535Test

المؤلفون: José Luis Barbero

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
The Application of Clinical Genetics

مصطلحات موضوعية: Cell division, Cohesin complex, Gene expression, cohesin, Review, Biology, Chromosome segregation, chemistry.chemical_compound, Roberts syndrome, Control, Genetics, Sister chromatids, Cohesinopathies, Insulators, Gene, Cohesins, Genetics (clinical), Loss function, Cohesin, Cornelia de Lange syndrome, chemistry, gene expression, insulators, biological phenomena, cell phenomena, and immunity, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::903203f70c3264761aad3f881bf69d22Test
http://hdl.handle.net/10261/94137Test