DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number

Autor: Emma Strong, Carolyn B. Mervis, Elaine Tam, Colleen A. Morris, Bonita P. Klein-Tasman, Shelley L. Velleman, Lucy R. Osborne

Publikováno v: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)

Abstract Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by deletion and duplication of a 1.5 Mb region that includes at least five genes with a known role in epigenetic regulation.

Externí odkaz: https://doaj.org/article/47853678b58a444cbea67b62eb39bcb8

Cigarette smoke exposure during pregnancy alters fetomaternal cell trafficking leading to retention of microchimeric cells in the maternal lung.

Autor: Anja Vogelgesang, Cristina Scapin, Caroline Barone, Elaine Tam, Anna Blumental Perry, Christiane E L Dammann

Publikováno v: PLoS ONE, Vol 9, Iss 5, p e88285 (2014)

Cigarette smoke exposure causes chronic oxidative lung damage. During pregnancy, fetal microchimeric cells traffic to the mother. Their numbers are increased at the site of acute injury. We hypothesized that milder chronic diffuse smoke injury would

Externí odkaz: https://doaj.org/article/a4ab05a607cc4f229cfbd0331e7bf566

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models

Autor: Zhong Ping Feng, Alexander J. Groffen, Ya Chi Huang, Hong Shuo Sun, Michael Wu, Jacqueline N. Crawley, Lucy R. Osborne, Ekaterina Turlova, Nardos G. Tassew, Wenliang Chen, Marielle Deurloo, You Wei Lin, Philippe P. Monnier, Elaine Tam

Publikováno v: Molecular Neurobiology
Deurloo, M H S, Turlova, E, Chen, W-L, Lin, Y W, Tam, E, Tassew, N G, Wu, M, Huang, Y-C, Crawley, J N, Monnier, P P, Groffen, A J A, Sun, H-S, Osborne, L R & Feng, Z-P 2019, ' Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models ', Molecular Neurobiology, vol. 56, no. 5, pp. 3313-3325 . https://doi.org/10.1007/s12035-018-1290-7
Molecular Neurobiology, 56(5), 3313-3325. Humana Press
Deurloo, M H S, Turlova, E, Chen, W L, Lin, Y W, Tam, E, Tassew, N G, Wu, M, Huang, Y C, Crawley, J N, Monnier, P P, Groffen, A J A, Sun, H S, Osborne, L R & Feng, Z P 2019, ' Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models ', Molecular Neurobiology, vol. 56, no. 5, pp. 3313-3325 . https://doi.org/10.1007/s12035-018-1290-7

Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7q11.23) are neurodevelopmental disorders caused by the deletion and duplication, respectively, of ~ 25 protein-coding genes on chromosome 7q11.23. The general transcription factor 2I (GTF2I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e90cb6dead4bff6df82c89ae9dd962a
https://research.vu.nl/en/publications/64cb023b-4fc6-4474-bf64-ed3a64b5a39e

The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms

Autor: Christian R. Marshall, Wayne Loo, Lucy R. Osborne, Stephen W. Scherer, Colleen A. Morris, Edwin J. Young, Elaine Tam, Carolyn B. Mervis

Publikováno v: American Journal of Medical Genetics Part A. :1797-1806

Williams-Beuren syndrome (WBS) is caused by a approximately 1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv-1, exists as a polymorphism but was also found in individuals with WBS-like features but no deletion, sugg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014e62e3cbe6a3b73c835c4eb6f7b7ac
https://doi.org/10.1002/ajmg.a.32360

3D visualization of the regional differences

Autor: David R. Hampson, Toru Takumi, Christopher L. Muller, Elaine Tam, M. C. van Eede, Daniel H. Geschwind, Nobuhiro Nakai, Alea A. Mills, Zhong Xuan, F. Espinosa-Becerra, Jeremy Veenstra-VanderWeele, Lucy R. Osborne, R. M. Henkelman, Jacqueline N. Crawley, Emanuel DiCicco-Bloom, Laura K. K. Pacey, Travis M. Kerr, Jin Nakatani, Jason P. Lerch, Olga Peñagarikano, Jonathan Lai, Craig M. Powell, Jane A. Foster, Brooke A. Babineau, Diane M. Robins, C. L. Laliberté, Evdokia Anagnostou, Lulu Lin, Jacob Ellegood, Matthieu Genestine, Mehreen Kouser, Randy D. Blakely, Armin Raznahan

Publikováno v: Molecular Psychiatry. 20:1-1

We examined 26 different mouse models related to autism and identified three groups that shared similar neuroanatomical phenotypes. These three groups and their regional differences are shown here. Anything highlighted in red was determined to be lar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a32332ed06bc170f0234d39da1b71d35
https://doi.org/10.1038/mp.2014.168