Výsledky vyhledávání - "Arianna Vino"

Akademický článek

A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus.

Autor: Young Jae Woo, Tao Wang, Tulio Guadalupe, Rebecca A Nebel, Arianna Vino, Victor A Del Bene, Sophie Molholm, Lars A Ross, Marcel P Zwiers, Simon E Fisher, John J Foxe, Brett S Abrahams

Publikováno v: PLoS ONE, Vol 11, Iss 6, p e0158036 (2016)

Copy number variants (CNVs) at the Breakpoint 1 to Breakpoint 2 region at 15q11.2 (BP1-2) are associated with language-related difficulties and increased risk for developmental disorders in which language is compromised. Towards underlying mechanisms

Externí odkaz: https://doaj.org/article/2cac800771ee4b4bbb79ea52f221d183

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Characterization of the TBR1 interactome

Autor: Elliot Sollis, Joery den Hoed, Marti Quevedo, Sara B Estruch, Arianna Vino, Dick H W Dekkers, Jeroen A A Demmers, Raymond Poot, Pelagia Deriziotis, Simon E Fisher

Publikováno v: Human Molecular Genetics, 32(9), 1497-1510. Oxford University Press
Human Molecular Genetics. Advance online publication

TBR1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (NDD) combining features of autism spectrum disorder (ASD), intellectual disability (ID) and speech delay. TBR1 has been prev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462db05495950cb0dc740ecd5a710c89
https://pure.eur.nl/en/publications/a839a967-e395-481e-bdb2-19ad82c70d54

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SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

Publikováno v: medRxiv

Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (SGS), a rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7

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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Autor: Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742

International audience; Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the disco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bcf100f3cbcb4de0590d4409d43436
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK

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Toward robust functional neuroimaging genetics of cognition

Autor: Evelina Fedorenko, Simon E. Fisher, Zachary Mineroff, Julia Udden, Peter Hagoort, Arianna Vino, Annika Hultén, Katarina Bendtz, Katerina S. Kucera

Publikováno v: J Neurosci
The Journal of Neuroscience, 39, 44, pp. 8778-8787
Journal of Neuroscience
The Journal of Neuroscience, 39, 8778-8787

Contains fulltext : 209184.pdf (Publisher’s version ) (Open Access) A commonly held assumption in cognitive neuroscience is that, because measures of human brain function are closer to underlying biology than distal indices of behaviour/cognition,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37dce500a2cdd3c34717411249a9ec6f
https://doi.org/10.1523/jneurosci.0888-19.2019

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Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits

Autor: Anton V. Sidoroff-Dorso, Joery den Hoed, Duncan Carmichael, Jamie Ward, Beate St Pourcain, Simon E. Fisher, Loes van den Heuvel, Julia Simner, Arianna Vino, Amanda K. Tilot, Romke Rouw, Archie Campbell, Tessa M. van Leeuwen, David J. Porteous, Katerina S. Kucera

Publikováno v: Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions B: Biological Sciences, vol. 374, no. 1787 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions of the Royal Society B-Biological Sciences, 374(1787):20190026. Royal Society of London
Philosophical Transactions of the Royal Society B: Biological Sciences, 374(1787), 1-11. ROYAL SOC
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1-11
Tilot, A K, Vino, A, Kucera, K S, Carmichael, D A, van den Heuvel, L, den Hoed, J, Sidoroff-Dorso, A V, Campbell, A, Porteous, D J, St Pourcain, B, van Leeuwen, T M, Ward, J, Rouw, R, Simner, J & Fisher, S E 2019, ' Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits ', Philosophical Transactions of the Royal Society B: Biological Sciences, vol. 374, no. 1787, pp. 20190026 . https://doi.org/10.1098/rstb.2019.0026
Philosophical Transactions-Royal Society. Biological Sciences, 374, 1787, pp. 1-11
Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences

Synaesthesia is a neurological phenomenon affecting perception, where triggering stimuli (e.g. letters and numbers) elicit unusual secondary sensory experiences (e.g. colours). Family-based studies point to a role for genetic factors in the developme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0896e4b2da5b3be4a3c1ec15bc26de5
https://hdl.handle.net/1983/41f5bebc-d4ee-45a6-97c1-c1749431e9b4

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A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Autor: Simon E. Fisher, Bernard Mazoyer, Ingrid E. Scheffer, Else Eising, Arianna Vino, Angela T Morgan, Edythe A. Strand, Richard Webster, Melanie Bahlo, Lawrence D. Shriberg, Michael S. Hildebrand, Amaia Carrion-Castillo, Clyde Francks, Thomas S. Scerri, Kathy J. Jakielski, Alan Ma

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, 24, 1065-1078
Molecular Psychiatry, Nature Publishing Group, In press
Molecular Psychiatry, 24, pp. 1065-1078

International audience; Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::631f23692db84632ccaf7453a96ce136

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Evaluation of results from genome-wide studies of language and reading in a novel independent dataset

Autor: Amaia Carrion-Castillo, Clyde Francks, P .F. De Jong, E. van Bergen, Arianna Vino, Simon E. Fisher, T.L. van Zuijen

Publikováno v: Genes, Brain and Behavior. 15:531-541

Recent genome-wide association scans (GWAS) for reading and language abilities have pin-pointed promising new candidate loci. However, the potential contributions of these loci remain to be validated. In this study, we tested 17 of the most significa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::778ed7f1a5ddd3b0524a3a258738dfa8
https://doi.org/10.1111/gbb.12299

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Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

Autor: Simon E. Fisher, Christian Gilissen, Henning Froehlich, Arianna Vino, Danai Dimitropoulou, Pelagia Deriziotis, Sarah A. Graham, Maaike Vreeburg, Elliot Sollis, Gudrun A. Rappold, Han G. Brunner, Rolph Pfundt

Publikováno v: Human Molecular Genetics
Europe PubMed Central
Human Molecular Genetics, 25, 546-57
Human Molecular Genetics, 25, 3, pp. 546-57
Human Molecular Genetics, 25(3), 546-557. Oxford University Press

Contains fulltext : 167384.pdf (Publisher’s version ) (Open Access) De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-rela

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7d6a2409be19804224cca140cb788e
https://doi.org/10.1093/hmg/ddv495

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Correction to ‘Investigating genetic links between grapheme–colour synaesthesia and neuropsychiatric traits’

Autor: Simon E. Fisher, Amanda K. Tilot, Romke Rouw, Jamie Ward, Anton V. Sidoroff-Dorso, Joery den Hoed, Archie Campbell, Tessa M. van Leeuwen, Arianna Vino, Beate St Pourcain, David J. Porteous, Julia Simner, Katerina S. Kucera, Loes van den Heuvel, Duncan Carmichael

Publikováno v: Philosophical Transactions-Royal Society. Biological Sciences, 375, 1795, pp. 1-2
Philosophical Transactions-Royal Society. Biological Sciences, 375, 1-2
Philos Trans R Soc Lond B Biol Sci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d01fba9bd88d8fbb3d77371cdadd07b
https://doi.org/10.1098/rstb.2019.0746

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