المؤلفون: Long, Hannah K, Osterwalder, Marco, Welsh, Ian C, Hansen, Karissa, Davies, James OJ, Liu, Yiran E, Koska, Mervenaz, Adams, Alexander T, Aho, Robert, Arora, Neha, Ikeda, Kazuya, Williams, Ruth M, Sauka-Spengler, Tatjana, Porteus, Matthew H, Mohun, Tim, Dickel, Diane E, Swigut, Tomek, Hughes, Jim R, Higgs, Douglas R, Visel, Axel, Selleri, Licia, Wysocka, Joanna

المصدر: Cell Stem Cell. 27(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Stem Cell Research, Congenital Structural Anomalies, Pediatric, Stem Cell Research - Nonembryonic - Human, Biotechnology, Stem Cell Research - Embryonic - Human, Dental/Oral and Craniofacial Disease, 1.1 Normal biological development and functioning, Cell Differentiation, Humans, Mutation, Neural Crest, Pierre Robin Syndrome, Regulatory Sequences, Nucleic Acid, SOX9 Transcription Factor, Pierre Robin sequence, SOX9, craniofacial, enhancer, enhanceropathy, gene dosage, long-range regulation, neural crest, non-coding mutation, transcription, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/46v3b0p1
https://escholarship.org/content/qt46v3b0p1/qt46v3b0p1.pdf

المؤلفون: Pudjihartono, Michael, Perry, Jo K.^{Aff1, Aff2}, Print, Cris^{Aff2, Aff3}, O’Sullivan, Justin M.^{Aff1, Aff2, Aff4, Aff5}, Schierding, William^{Aff1, Aff2, IDs13148022013423_cor5}

المصدر: Clinical Epigenetics. 14(1)

المؤلفون: Tuan Trieu, Alexander Martinez-Fundichely, Ekta Khurana

المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: 3D genome, Non-coding mutation, Cancer, BCL2, MYC, Deep learning, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13059-020-01987-4; https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/9f497210053349c499fa646e3899a4c7

المؤلفون: Plaisancié, Julie^{Aff1, Aff2}, Tarilonte, M.^{Aff3, Aff4}, Ramos, P.^{Aff3, Aff4}, Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D.^{Aff3, Aff4}, Kaplan, J., Fares-Taie, L., Blanco-Kelly, F.^{Aff3, Aff4}, Villaverde, C.^{Aff3, Aff4}, Francannet, C., Goldenberg, A., Arroyo, I.^{Aff4, Aff9}, Rozet, J. M., Ayuso, C.^{Aff3, Aff4}, Chassaing, N.^{Aff1, Aff2}, Calvas, P.^{Aff1, Aff2}, Corton, M.^{Aff3, Aff4}

المصدر: Human Genetics. 137(10):831-846

المؤلفون: Trieu, Tuan^{Aff1, Aff2, Aff3}, Martinez-Fundichely, Alexander^{Aff1, Aff2, Aff3}, Khurana, Ekta^{Aff1, Aff2, Aff3, Aff4}

المصدر: Genome Biology. 21(1)

المؤلفون: Sophie Vacher, Voreak Suybeng, Elodie Girard, Julien Masliah Planchon, Grégory Thomson, Constance Le Goux, Simon Garinet, Anne Schnitzler, Walid Chemlali, Virginie Firlej, Diane Damotte, Yves Allory, Maud Kamal, Géraldine Pignot, Ivan Bieche

المصدر: Cancers, Vol 12, Iss 10, p 2882 (2020)

مصطلحات موضوعية: bladder cancer, genomic instability signature, non-coding mutation, clinical biomarkers, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6694/12/10/2882; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/a15dc50317e24823b275305eda57bc3a

المؤلفون: Kok A. Gan, Sebastian Carrasco Pro, Jared A. Sewell, Juan I. Fuxman Bass

المصدر: Frontiers in Genetics, Vol 9 (2018)

مصطلحات موضوعية: cancer, non-coding mutation, driver mutation, hotspot analysis, motif analysis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2018.00016/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/541f743735f74ae9be98e71140ee3434

المؤلفون: Yiran E. Liu, Diane E. Dickel, Robert Aho, Mervenaz Koska, Hannah K. Long, Neha Arora, Licia Selleri, Matthew H. Porteus, Alexander T. Adams, Ian C. Welsh, Ruth M. Williams, Tatjana Sauka-Spengler, James O.J. Davies, Marco Osterwalder, Douglas R. Higgs, Karissa Hansen, Kazuya Ikeda, Axel Visel, Tomek Swigut, Timothy J. Mohun, Jim R. Hughes, Joanna Wysocka

المصدر: Long, H K, Osterwalder, M, Welsh, I C, Hansen, K, Davies, J O J, Liu, Y E, Koska, M, Adams, A T, Aho, R, Arora, N, Ikeda, K, Williams, R M, Sauka-Spengler, T, Porteus, M H, Mohun, T, Dickel, D E, Swigut, T, Hughes, J R, Higgs, D R, Visel, A, Selleri, L & Wysocka, J 2020, ' Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder ', Cell Stem Cell, vol. 27, no. 5, pp. 765-783.e14 . https://doi.org/10.1016/j.stem.2020.09.001
Cell Stem Cell
Cell stem cell, vol 27, iss 5

مصطلحات موضوعية: Pediatric Research Initiative, Mutation/genetics, Cellular differentiation, gene dosage, non-coding mutation, SOX9, Biology, Regulatory Sequences, Nucleic Acid, craniofacial, Medical and Health Sciences, Gene dosage, Article, 03 medical and health sciences, 0302 clinical medicine, Stem Cell Research - Nonembryonic - Human, Genetics, Humans, Stem Cell Research - Embryonic - Human, Dental/Oral and Craniofacial Disease, Craniofacial, Enhancer, Gene, 030304 developmental biology, Pediatric, 0303 health sciences, Pierre Robin sequence, Nucleic Acid, Pierre Robin Syndrome, enhanceropathy, Neural crest, SOX9 Transcription Factor, Cell Differentiation, Cell Biology, Biological Sciences, Stem Cell Research, Phenotype, Cell biology, SOX9 Transcription Factor/genetics, long-range regulation, Neural Crest, Mutation, Congenital Structural Anomalies, Molecular Medicine, enhancer, transcription, Regulatory Sequences, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f150da7af4ebb8826bb96a6b61a3a0ca
https://www.pure.ed.ac.uk/ws/files/249582527/Loss_of_Extreme_Long_Range_Enhancers_in_Human.pdf

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المؤلفون: Ekta Khurana, Tuan Trieu, Alexander Martinez-Fundichely

المصدر: Genome Biology
Genome Biology, Vol 21, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: BCL2, CCCTC-Binding Factor, lcsh:QH426-470, Chromosomal Proteins, Non-Histone, Method, Cell Cycle Proteins, MYC, Computational biology, Insulator (genetics), Biology, Genome, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, Neoplasms, Humans, Coding region, lcsh:QH301-705.5, Gene, Cancer, 030304 developmental biology, 0303 health sciences, Whole Genome Sequencing, Cohesin, Non-coding mutation, Deep learning, 3D genome, Chromatin, Human genetics, 3. Good health, lcsh:Genetics, lcsh:Biology (General), CTCF, Mutation, Insulator Elements, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670f089d060a0dc4e91d24fb3b399a12
https://doi.org/10.1186/s13059-020-01987-4