[{"file":[{"access_level":"open_access","relation":"main_file","content_type":"application/pdf","checksum":"a0f05dd4f5f64e4f713d8d9d4b5b1e3f","file_id":"6973","creator":"dernst","date_updated":"2020-07-14T12:47:46Z","file_size":2243134,"date_created":"2019-10-25T10:28:29Z","file_name":"2019_CompVision_Henderson.pdf"}],"language":[{"iso":"eng"}],"publication_identifier":{"issn":["0920-5691"],"eissn":["1573-1405"]},"publication_status":"published","volume":128,"license":"https://creativecommons.org/licenses/by/4.0/","oa_version":"Published Version","abstract":[{"lang":"eng","text":"We present a unified framework tackling two problems: class-specific 3D reconstruction from a single image, and generation of new 3D shape samples. These tasks have received considerable attention recently; however, most existing approaches rely on 3D supervision, annotation of 2D images with keypoints or poses, and/or training with multiple views of each object instance. Our framework is very general: it can be trained in similar settings to existing approaches, while also supporting weaker supervision. Importantly, it can be trained purely from 2D images, without pose annotations, and with only a single view per instance. We employ meshes as an output representation, instead of voxels used in most prior work. This allows us to reason over lighting parameters and exploit shading information during training, which previous 2D-supervised methods cannot. Thus, our method can learn to generate and reconstruct concave object classes. We evaluate our approach in various settings, showing that: (i) it learns to disentangle shape from pose and lighting; (ii) using shading in the loss improves performance compared to just silhouettes; (iii) when using a standard single white light, our model outperforms state-of-the-art 2D-supervised methods, both with and without pose supervision, thanks to exploiting shading cues; (iv) performance improves further when using multiple coloured lights, even approaching that of state-of-the-art 3D-supervised methods; (v) shapes produced by our model capture smooth surfaces and fine details better than voxel-based approaches; and (vi) our approach supports concave classes such as bathtubs and sofas, which methods based on silhouettes cannot learn."}],"month":"04","intvolume":" 128","scopus_import":"1","ddc":["004"],"date_updated":"2023-08-17T14:01:16Z","department":[{"_id":"ChLa"}],"file_date_updated":"2020-07-14T12:47:46Z","_id":"6952","status":"public","article_type":"original","type":"journal_article","tmp":{"legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode","image":"/images/cc_by.png","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","short":"CC BY (4.0)"},"day":"01","publication":"International Journal of Computer Vision","has_accepted_license":"1","isi":1,"year":"2020","doi":"10.1007/s11263-019-01219-8","date_published":"2020-04-01T00:00:00Z","date_created":"2019-10-17T13:38:20Z","page":"835-854","acknowledgement":"Open access funding provided by Institute of Science and Technology (IST Austria).","quality_controlled":"1","publisher":"Springer Nature","oa":1,"user_id":"4359f0d1-fa6c-11eb-b949-802e58b17ae8","citation":{"apa":"Henderson, P. M., & Ferrari, V. (2020). Learning single-image 3D reconstruction by generative modelling of shape, pose and shading. International Journal of Computer Vision. Springer Nature. https://doi.org/10.1007/s11263-019-01219-8","ama":"Henderson PM, Ferrari V. Learning single-image 3D reconstruction by generative modelling of shape, pose and shading. International Journal of Computer Vision. 2020;128:835-854. doi:10.1007/s11263-019-01219-8","short":"P.M. Henderson, V. Ferrari, International Journal of Computer Vision 128 (2020) 835–854.","ieee":"P. M. Henderson and V. Ferrari, “Learning single-image 3D reconstruction by generative modelling of shape, pose and shading,” International Journal of Computer Vision, vol. 128. Springer Nature, pp. 835–854, 2020.","mla":"Henderson, Paul M., and Vittorio Ferrari. “Learning Single-Image 3D Reconstruction by Generative Modelling of Shape, Pose and Shading.” International Journal of Computer Vision, vol. 128, Springer Nature, 2020, pp. 835–54, doi:10.1007/s11263-019-01219-8.","ista":"Henderson PM, Ferrari V. 2020. Learning single-image 3D reconstruction by generative modelling of shape, pose and shading. International Journal of Computer Vision. 128, 835–854.","chicago":"Henderson, Paul M, and Vittorio Ferrari. “Learning Single-Image 3D Reconstruction by Generative Modelling of Shape, Pose and Shading.” International Journal of Computer Vision. Springer Nature, 2020. https://doi.org/10.1007/s11263-019-01219-8."},"title":"Learning single-image 3D reconstruction by generative modelling of shape, pose and shading","author":[{"orcid":"0000-0002-5198-7445","full_name":"Henderson, Paul M","last_name":"Henderson","id":"13C09E74-18D9-11E9-8878-32CFE5697425","first_name":"Paul M"},{"last_name":"Ferrari","full_name":"Ferrari, Vittorio","first_name":"Vittorio"}],"article_processing_charge":"Yes (via OA deal)","external_id":{"isi":["000491042100002"],"arxiv":["1901.06447"]},"project":[{"name":"IST Austria Open Access Fund","_id":"B67AFEDC-15C9-11EA-A837-991A96BB2854"}]},{"user_id":"4359f0d1-fa6c-11eb-b949-802e58b17ae8","citation":{"chicago":"Nakamoto, Chihiro, Kohtarou Konno, Taisuke Miyazaki, Ena Nakatsukasa, Rie Natsume, Manabu Abe, Meiko Kawamura, et al. “Expression Mapping, Quantification, and Complex Formation of GluD1 and GluD2 Glutamate Receptors in Adult Mouse Brain.” Journal of Comparative Neurology. Wiley, 2020. https://doi.org/10.1002/cne.24792.","ista":"Nakamoto C, Konno K, Miyazaki T, Nakatsukasa E, Natsume R, Abe M, Kawamura M, Fukazawa Y, Shigemoto R, Yamasaki M, Sakimura K, Watanabe M. 2020. Expression mapping, quantification, and complex formation of GluD1 and GluD2 glutamate receptors in adult mouse brain. Journal of Comparative Neurology. 528(6), 1003–1027.","mla":"Nakamoto, Chihiro, et al. “Expression Mapping, Quantification, and Complex Formation of GluD1 and GluD2 Glutamate Receptors in Adult Mouse Brain.” Journal of Comparative Neurology, vol. 528, no. 6, Wiley, 2020, pp. 1003–27, doi:10.1002/cne.24792.","ama":"Nakamoto C, Konno K, Miyazaki T, et al. Expression mapping, quantification, and complex formation of GluD1 and GluD2 glutamate receptors in adult mouse brain. Journal of Comparative Neurology. 2020;528(6):1003-1027. doi:10.1002/cne.24792","apa":"Nakamoto, C., Konno, K., Miyazaki, T., Nakatsukasa, E., Natsume, R., Abe, M., … Watanabe, M. (2020). Expression mapping, quantification, and complex formation of GluD1 and GluD2 glutamate receptors in adult mouse brain. Journal of Comparative Neurology. Wiley. https://doi.org/10.1002/cne.24792","short":"C. Nakamoto, K. Konno, T. Miyazaki, E. Nakatsukasa, R. Natsume, M. Abe, M. Kawamura, Y. Fukazawa, R. Shigemoto, M. Yamasaki, K. Sakimura, M. Watanabe, Journal of Comparative Neurology 528 (2020) 1003–1027.","ieee":"C. Nakamoto et al., “Expression mapping, quantification, and complex formation of GluD1 and GluD2 glutamate receptors in adult mouse brain,” Journal of Comparative Neurology, vol. 528, no. 6. Wiley, pp. 1003–1027, 2020."},"title":"Expression mapping, quantification, and complex formation of GluD1 and GluD2 glutamate receptors in adult mouse brain","author":[{"last_name":"Nakamoto","full_name":"Nakamoto, Chihiro","first_name":"Chihiro"},{"last_name":"Konno","full_name":"Konno, Kohtarou","first_name":"Kohtarou"},{"first_name":"Taisuke","full_name":"Miyazaki, Taisuke","last_name":"Miyazaki"},{"first_name":"Ena","last_name":"Nakatsukasa","full_name":"Nakatsukasa, Ena"},{"last_name":"Natsume","full_name":"Natsume, Rie","first_name":"Rie"},{"last_name":"Abe","full_name":"Abe, Manabu","first_name":"Manabu"},{"last_name":"Kawamura","full_name":"Kawamura, Meiko","first_name":"Meiko"},{"first_name":"Yugo","last_name":"Fukazawa","full_name":"Fukazawa, Yugo"},{"orcid":"0000-0001-8761-9444","full_name":"Shigemoto, Ryuichi","last_name":"Shigemoto","first_name":"Ryuichi","id":"499F3ABC-F248-11E8-B48F-1D18A9856A87"},{"full_name":"Yamasaki, Miwako","last_name":"Yamasaki","first_name":"Miwako"},{"first_name":"Kenji","full_name":"Sakimura, Kenji","last_name":"Sakimura"},{"full_name":"Watanabe, Masahiko","last_name":"Watanabe","first_name":"Masahiko"}],"article_processing_charge":"No","external_id":{"pmid":["31625608"],"isi":["000496410200001"]},"acknowledgement":"This study was supported by Grants-in-Aid for Scientific Research to K.K. (18K06813), Y.M. (17K08503, 17H0631319), and K.S. (16H04650) and a grant for Scientific Research on Innovative Areas to K.S (16H06276) from the Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT). We thank K. Akashi, I. Watanabe-Iida, Y. Suzuki, and H. Azechi for technical assistance and advice, and H. Uchida for valuable discussions. We thank E. Kushiya,I. Yabe, C. Ohori, Y. Mochizuki, Y. Ishikawa, and N. Ishimoto for technical assistance in generating GluD1-KO mice.","quality_controlled":"1","publisher":"Wiley","day":"01","publication":"Journal of Comparative Neurology","isi":1,"has_accepted_license":"1","year":"2020","doi":"10.1002/cne.24792","date_published":"2020-04-01T00:00:00Z","date_created":"2019-12-04T16:09:29Z","page":"1003-1027","_id":"7148","status":"public","type":"journal_article","article_type":"original","ddc":["571","599"],"date_updated":"2023-08-17T14:06:50Z","department":[{"_id":"RySh"}],"pmid":1,"oa_version":"None","abstract":[{"lang":"eng","text":"In the cerebellum, GluD2 is exclusively expressed in Purkinje cells, where it regulates synapse formation and regeneration, synaptic plasticity, and motor learning. Delayed cognitive development in humans with GluD2 gene mutations suggests extracerebellar functions of GluD2. However, extracerebellar expression of GluD2 and its relationship with that of GluD1 are poorly understood. GluD2 mRNA and protein were widely detected, with relatively high levels observed in the olfactory glomerular layer, medial prefrontal cortex, cingulate cortex, retrosplenial granular cortex, olfactory tubercle, subiculum, striatum, lateral septum, anterodorsal thalamic nucleus, and arcuate hypothalamic nucleus. These regions were also enriched for GluD1, and many individual neurons coexpressed the two GluDs. In the retrosplenial granular cortex, GluD1 and GluD2 were selectively expressed at PSD‐95‐expressing glutamatergic synapses, and their coexpression on the same synapses was shown by SDS‐digested freeze‐fracture replica labeling. Biochemically, GluD1 and GluD2 formed coimmunoprecipitable complex formation in HEK293T cells and in the cerebral cortex and hippocampus. We further estimated the relative protein amount by quantitative immunoblotting using GluA2/GluD2 and GluA2/GluD1 chimeric proteins as standards for titration of GluD1 and GluD2 antibodies. Intriguingly, the relative amount of GluD2 was almost comparable to that of GluD1 in the postsynaptic density fraction prepared from the cerebral cortex and hippocampus. In contrast, GluD2 was overwhelmingly predominant in the cerebellum. Thus, we have determined the relative extracerebellar expression of GluD1 and GluD2 at regional, neuronal, and synaptic levels. These data provide a molecular–anatomical basis for possible competitive and cooperative interactions of GluD family members at synapses in various brain regions."}],"month":"04","intvolume":" 528","scopus_import":"1","language":[{"iso":"eng"}],"publication_identifier":{"issn":["0021-9967"],"eissn":["1096-9861"]},"publication_status":"published","issue":"6","volume":528},{"intvolume":" 57","month":"02","main_file_link":[{"open_access":"1","url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035206/"}],"scopus_import":"1","oa_version":"Submitted Version","pmid":1,"abstract":[{"lang":"eng","text":"Removal of the Bax gene from mice completely protects the somas of retinal ganglion cells (RGCs) from apoptosis following optic nerve injury. This makes BAX a promising therapeutic target to prevent neurodegeneration. In this study, Bax+/− mice were used to test the hypothesis that lowering the quantity of BAX in RGCs would delay apoptosis following optic nerve injury. RGCs were damaged by performing optic nerve crush (ONC) and then immunostaining for phospho-cJUN, and quantitative PCR were used to monitor the status of the BAX activation mechanism in the months following injury. The apoptotic susceptibility of injured cells was directly tested by virally introducing GFP-BAX into Bax−/− RGCs after injury. The competency of quiescent RGCs to reactivate their BAX activation mechanism was tested by intravitreal injection of the JNK pathway agonist, anisomycin. Twenty-four weeks after ONC, Bax+/− mice had significantly less cell loss in their RGC layer than Bax+/+ mice 3 weeks after ONC. Bax+/− and Bax+/+ RGCs exhibited similar patterns of nuclear phospho-cJUN accumulation immediately after ONC, which persisted in Bax+/− RGCs for up to 7 weeks before abating. The transcriptional activation of BAX-activating genes was similar in Bax+/− and Bax+/+ RGCs following ONC. Intriguingly, cells deactivated their BAX activation mechanism between 7 and 12 weeks after crush. Introduction of GFP-BAX into Bax−/− cells at 4 weeks after ONC showed that these cells had a nearly normal capacity to activate this protein, but this capacity was lost 8 weeks after crush. Collectively, these data suggest that 8–12 weeks after crush, damaged cells no longer displayed increased susceptibility to BAX activation relative to their naïve counterparts. In this same timeframe, retinal glial activation and the signaling of the pro-apoptotic JNK pathway also abated. Quiescent RGCs did not show a timely reactivation of their JNK pathway following intravitreal injection with anisomycin. These findings demonstrate that lowering the quantity of BAX in RGCs is neuroprotective after acute injury. Damaged RGCs enter a quiescent state months after injury and are no longer responsive to an apoptotic stimulus. Quiescent RGCs will require rejuvenation to reacquire functionality."}],"issue":"2","volume":57,"language":[{"iso":"eng"}],"publication_status":"published","publication_identifier":{"eissn":["1559-1182"],"issn":["0893-7648"]},"status":"public","article_type":"original","type":"journal_article","_id":"7033","department":[{"_id":"SaSi"}],"date_updated":"2023-08-17T14:05:48Z","oa":1,"publisher":"Springer Nature","quality_controlled":"1","acknowledgement":"This work was supported by National Eye Institute grants R01 EY012223 (RWN), R01 EY030123 (RWN), T32 EY027721 (Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison), and a Vision Science Core grant P30 EY016665 (Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison), an unrestricted funding grant from Research to Prevent Blindness (Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison), the Frederick A. Davis Endowment (RWN), and the Mr. and Mrs. George Taylor Foundation (RWN).","date_created":"2019-11-18T14:18:39Z","date_published":"2020-02-01T00:00:00Z","doi":"10.1007/s12035-019-01783-7","page":"1070–1084","publication":"Molecular Neurobiology","day":"01","year":"2020","isi":1,"title":"BAX-depleted retinal ganglion cells survive and become quiescent following optic nerve damage","external_id":{"pmid":["31673950"],"isi":["000493754200001"]},"article_processing_charge":"No","author":[{"last_name":"Donahue","full_name":"Donahue, RJ","first_name":"RJ"},{"orcid":"0000-0001-9642-1085","full_name":"Maes, Margaret E","last_name":"Maes","id":"3838F452-F248-11E8-B48F-1D18A9856A87","first_name":"Margaret E"},{"full_name":"Grosser, JA","last_name":"Grosser","first_name":"JA"},{"last_name":"Nickells","full_name":"Nickells, RW","first_name":"RW"}],"user_id":"4359f0d1-fa6c-11eb-b949-802e58b17ae8","citation":{"apa":"Donahue, R., Maes, M. E., Grosser, J., & Nickells, R. (2020). BAX-depleted retinal ganglion cells survive and become quiescent following optic nerve damage. Molecular Neurobiology. Springer Nature. https://doi.org/10.1007/s12035-019-01783-7","ama":"Donahue R, Maes ME, Grosser J, Nickells R. BAX-depleted retinal ganglion cells survive and become quiescent following optic nerve damage. Molecular Neurobiology. 2020;57(2):1070–1084. doi:10.1007/s12035-019-01783-7","short":"R. Donahue, M.E. Maes, J. Grosser, R. Nickells, Molecular Neurobiology 57 (2020) 1070–1084.","ieee":"R. Donahue, M. E. Maes, J. Grosser, and R. Nickells, “BAX-depleted retinal ganglion cells survive and become quiescent following optic nerve damage,” Molecular Neurobiology, vol. 57, no. 2. Springer Nature, pp. 1070–1084, 2020.","mla":"Donahue, RJ, et al. “BAX-Depleted Retinal Ganglion Cells Survive and Become Quiescent Following Optic Nerve Damage.” Molecular Neurobiology, vol. 57, no. 2, Springer Nature, 2020, pp. 1070–1084, doi:10.1007/s12035-019-01783-7.","ista":"Donahue R, Maes ME, Grosser J, Nickells R. 2020. BAX-depleted retinal ganglion cells survive and become quiescent following optic nerve damage. Molecular Neurobiology. 57(2), 1070–1084.","chicago":"Donahue, RJ, Margaret E Maes, JA Grosser, and RW Nickells. “BAX-Depleted Retinal Ganglion Cells Survive and Become Quiescent Following Optic Nerve Damage.” Molecular Neurobiology. Springer Nature, 2020. https://doi.org/10.1007/s12035-019-01783-7."}},{"intvolume":" 225","month":"02","scopus_import":"1","oa_version":"Published Version","pmid":1,"ec_funded":1,"issue":"3","volume":225,"language":[{"iso":"eng"}],"file":[{"success":1,"file_id":"8772","checksum":"cd42ffdb381fd52812b9583d4d407139","relation":"main_file","access_level":"open_access","content_type":"application/pdf","file_name":"2020_NewPhytologist_Zhang.pdf","date_created":"2020-11-18T16:42:48Z","creator":"dernst","file_size":717345,"date_updated":"2020-11-18T16:42:48Z"}],"publication_status":"published","publication_identifier":{"eissn":["1469-8137"],"issn":["0028-646x"]},"status":"public","tmp":{"legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode","image":"/images/cc_by.png","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)","short":"CC BY (4.0)"},"article_type":"original","type":"journal_article","_id":"6997","file_date_updated":"2020-11-18T16:42:48Z","department":[{"_id":"JiFr"}],"ddc":["580"],"date_updated":"2023-08-17T14:01:49Z","oa":1,"quality_controlled":"1","publisher":"Wiley","date_created":"2019-11-12T11:41:32Z","date_published":"2020-02-01T00:00:00Z","doi":"10.1111/nph.16203","page":"1049-1052","publication":"New Phytologist","day":"01","year":"2020","isi":1,"has_accepted_license":"1","project":[{"name":"Tracing Evolution of Auxin Transport and Polarity in Plants","grant_number":"742985","_id":"261099A6-B435-11E9-9278-68D0E5697425","call_identifier":"H2020"},{"name":"Molecular mechanisms of endocytic cargo recognition in plants","grant_number":"I03630","call_identifier":"FWF","_id":"26538374-B435-11E9-9278-68D0E5697425"},{"call_identifier":"FP7","_id":"25681D80-B435-11E9-9278-68D0E5697425","grant_number":"291734","name":"International IST Postdoc Fellowship Programme"}],"title":"Auxin guides roots to avoid obstacles during gravitropic growth","external_id":{"pmid":["31603260"],"isi":["000489638800001"]},"article_processing_charge":"Yes (via OA deal)","author":[{"first_name":"Yuzhou","id":"3B6137F2-F248-11E8-B48F-1D18A9856A87","last_name":"Zhang","orcid":"0000-0003-2627-6956","full_name":"Zhang, Yuzhou"},{"full_name":"Friml, Jiří","orcid":"0000-0002-8302-7596","last_name":"Friml","first_name":"Jiří","id":"4159519E-F248-11E8-B48F-1D18A9856A87"}],"user_id":"4359f0d1-fa6c-11eb-b949-802e58b17ae8","citation":{"ista":"Zhang Y, Friml J. 2020. Auxin guides roots to avoid obstacles during gravitropic growth. New Phytologist. 225(3), 1049–1052.","chicago":"Zhang, Yuzhou, and Jiří Friml. “Auxin Guides Roots to Avoid Obstacles during Gravitropic Growth.” New Phytologist. Wiley, 2020. https://doi.org/10.1111/nph.16203.","ieee":"Y. Zhang and J. Friml, “Auxin guides roots to avoid obstacles during gravitropic growth,” New Phytologist, vol. 225, no. 3. Wiley, pp. 1049–1052, 2020.","short":"Y. Zhang, J. Friml, New Phytologist 225 (2020) 1049–1052.","ama":"Zhang Y, Friml J. Auxin guides roots to avoid obstacles during gravitropic growth. New Phytologist. 2020;225(3):1049-1052. doi:10.1111/nph.16203","apa":"Zhang, Y., & Friml, J. (2020). Auxin guides roots to avoid obstacles during gravitropic growth. New Phytologist. Wiley. https://doi.org/10.1111/nph.16203","mla":"Zhang, Yuzhou, and Jiří Friml. “Auxin Guides Roots to Avoid Obstacles during Gravitropic Growth.” New Phytologist, vol. 225, no. 3, Wiley, 2020, pp. 1049–52, doi:10.1111/nph.16203."}},{"author":[{"full_name":"Avagliano, Laura","last_name":"Avagliano","first_name":"Laura"},{"full_name":"Parenti, Ilaria","last_name":"Parenti","first_name":"Ilaria","id":"D93538B0-5B71-11E9-AC62-02EBE5697425"},{"full_name":"Grazioli, Paolo","last_name":"Grazioli","first_name":"Paolo"},{"last_name":"Di Fede","full_name":"Di Fede, Elisabetta","first_name":"Elisabetta"},{"first_name":"Chiara","full_name":"Parodi, Chiara","last_name":"Parodi"},{"full_name":"Mariani, Milena","last_name":"Mariani","first_name":"Milena"},{"first_name":"Frank J.","last_name":"Kaiser","full_name":"Kaiser, Frank J."},{"full_name":"Selicorni, Angelo","last_name":"Selicorni","first_name":"Angelo"},{"first_name":"Cristina","last_name":"Gervasini","full_name":"Gervasini, Cristina"},{"first_name":"Valentina","last_name":"Massa","full_name":"Massa, Valentina"}],"article_processing_charge":"No","external_id":{"isi":["000562561800001"],"pmid":["31721174"]},"title":"Chromatinopathies: A focus on Cornelia de Lange syndrome","citation":{"short":"L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa, Clinical Genetics 97 (2020) 3–11.","ieee":"L. Avagliano et al., “Chromatinopathies: A focus on Cornelia de Lange syndrome,” Clinical Genetics, vol. 97, no. 1. Wiley, pp. 3–11, 2020.","ama":"Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674","apa":"Avagliano, L., Parenti, I., Grazioli, P., Di Fede, E., Parodi, C., Mariani, M., … Massa, V. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. Wiley. https://doi.org/10.1111/cge.13674","mla":"Avagliano, Laura, et al. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics, vol. 97, no. 1, Wiley, 2020, pp. 3–11, doi:10.1111/cge.13674.","ista":"Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C, Massa V. 2020. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 97(1), 3–11.","chicago":"Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics. Wiley, 2020. https://doi.org/10.1111/cge.13674."},"user_id":"4359f0d1-fa6c-11eb-b949-802e58b17ae8","page":"3-11","date_published":"2020-01-01T00:00:00Z","doi":"10.1111/cge.13674","date_created":"2019-12-04T16:10:59Z","isi":1,"year":"2020","day":"01","publication":"Clinical Genetics","publisher":"Wiley","quality_controlled":"1","acknowledgement":" Dipartimento DiSS, Università degli Studi di Milano, Grant/Award Number: Linea 2; Fondazione Cariplo, Grant/Award Number: 2015-0783; German Federal Ministry of Education and Research (BMBF), Grant/Award Number: CHROMATIN-Net; Medical Faculty of the University of Lübeck, Grant/Award Number: J09-2017; Nickel & Co S.p.A.; Università degli Studi di Milano, Grant/Award Numbers: Molecular & Translational Medicine PhD Scholarship, Translational Medicine PhD Scholarship","department":[{"_id":"GaNo"}],"date_updated":"2023-08-17T14:06:20Z","type":"journal_article","article_type":"review","status":"public","_id":"7149","volume":97,"issue":"1","publication_identifier":{"issn":["0009-9163"],"eissn":["1399-0004"]},"publication_status":"published","language":[{"iso":"eng"}],"scopus_import":"1","month":"01","intvolume":" 97","abstract":[{"text":"In recent years, many genes have been associated with chromatinopathies classified as “Cornelia de Lange Syndrome‐like.” It is known that the phenotype of these patients becomes less recognizable, overlapping to features characteristic of other syndromes caused by genetic variants affecting different regulators of chromatin structure and function. Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Here, we review the molecular features of Cornelia de Lange syndrome, supporting the hypothesis that “CdLS‐like syndromes” are part of a larger “rare disease family” sharing multiple clinical features and common disrupted molecular pathways.","lang":"eng"}],"oa_version":"None","pmid":1}]