المؤلفون: Mullegama, Sureni, Klein, Steven, Signer, Rebecca, Vilain, Eric, Martinez-Agosto, Julian

المصدر: Molecular Genetics and Genomic Medicine. 7(2)

مصطلحات موضوعية: STAG2, X-linked gene, clinical exome sequencing, cohesin complex, cohesin-associated genes, cohesinopathies, human growth, neurodevelopment, reanalysis, Antigens, Nuclear, Cell Cycle Proteins, Child, Preschool, Developmental Disabilities, Genetic Diseases, X-Linked, Growth Disorders, Humans, Male, Mutation, Missense, Phenotype, Polydactyly, Syndrome

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/759783h7Test

المؤلفون: Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: STAG2, cohesinopathies, mosaic disorders, supernumerary nipples, bioengineered neuronal organoids, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1025332/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/b89df7894dff44b6aab7fe91af30ea86Test

المؤلفون: Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G., Wollnik, B.

المصدر: Front. Cell Dev. Biol. 10:1025332 (2022)

مصطلحات موضوعية: Cell Biology, Technology Platforms, Bioengineered Neuronal Organoids, Cohesinopathies, Mosaic Disorders, Stag2, Supernumerary Nipples, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b32f16f2200a9a871e521858a305b0cTest
https://doi.org/10.3389/fcell.2022.1025332Test

المؤلفون: Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), STAG2, cohesinopathies, mosaic disorders, supernumerary nipples, bioengineered neuronal organoids

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Somatic_mosaicism_in_STAG2-associated_cohesinopathies_Expansion_of_the_genotypic_and_phenotypic_spectrum_docx/21563271Test

الإتاحة: https://doi.org/10.3389/fcell.2022.1025332.s001Test
https://figshare.com/articles/dataset/DataSheet1_Somatic_mosaicism_in_STAG2-associated_cohesinopathies_Expansion_of_the_genotypic_and_phenotypic_spectrum_docx/21563271Test

المؤلفون: Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), STAG2, cohesinopathies, mosaic disorders, supernumerary nipples, bioengineered neuronal organoids

العلاقة: https://figshare.com/articles/dataset/Table1_Somatic_mosaicism_in_STAG2-associated_cohesinopathies_Expansion_of_the_genotypic_and_phenotypic_spectrum_DOCX/21563274Test

الإتاحة: https://doi.org/10.3389/fcell.2022.1025332.s002Test
https://figshare.com/articles/dataset/Table1_Somatic_mosaicism_in_STAG2-associated_cohesinopathies_Expansion_of_the_genotypic_and_phenotypic_spectrum_DOCX/21563274Test

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: 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: 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