Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Autor: Yuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina Corsello, Curtis K. Deutsch, Claire Chevalier, Erica E. Davis, Lilia M. Iakoucheva, Yann Herault, Nicholas Katsanis, Karen Messer, Jonathan Sebat

Publikováno v: Cell Reports, Vol 28, Iss 13, Pp 3320-3328.e4 (2019)

Summary: A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic mechanisms that underlie these associations are not understood. To determine the i

Externí odkaz: https://doaj.org/article/0bd3dfb14b7c4ee782858365d116b4aa

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Autor: Erica E. Davis, Omar Shanta, Curtis K. Deutsch, Yann Herault, Jonathan Sebat, Shawn Cho, Claire Chevalier, Christina Corsello, Nicholas Katsanis, Sandra Martin Lorenzo, Pang Timothy, Ellen Richardson, Yuqi Qiu, Hongying Li, Oanh Hong, Lilia M. Iakoucheva, Karen Messer, Shih C. Tang, Thomas Arbogast

Publikováno v: Cell Reports
Cell Reports, Elsevier Inc, 2019, 28 (13), pp.3320-3328.e4. ⟨10.1016/j.celrep.2019.08.071⟩
Cell Reports, Vol 28, Iss 13, Pp 3320-3328.e4 (2019)
Cell reports
Cell reports, vol 28, iss 13

SUMMARY A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic mechanisms that underlie these associations are not understood. To determine the in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86d9aa1660e8e41cded8ad00a1e3f8f
https://hal.archives-ouvertes.fr/hal-02388586

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

Autor: Lilia M. Iakoucheva, Curtis K. Deutsch, Yann Herault, Sandra Martin Lorenzo, Erica E. Davis, Hongying Li, Omar Shanta, Pang Timothy, Oanh Hong, Christina Corsello, Ellen Richardson, Yuqi Qiu, Shawn Cho, Jonathan Sebat, Karen Messer, Shih C. Tang, Thomas Arbogast, Nicholas Katsanis, Claire Chevalier

A copy number variant (CNV) of 16p11.2, which encompasses 30 genes, is associated with developmental and psychiatric disorders, head size and body mass. The genetic mechanisms that underlie these associations are not understood. To elucidate the effe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::998f57a3acfd7d322a251781341c0035

Effects of SM08502, a novel, oral small-molecule inhibitor of Wnt pathway signaling, on gene expression and antitumor activity in colorectal cancer (CRC) models

Autor: Emily Creger, Sunil Kc, Shawn Cho, Kevin Chiu, Steven Cha, John Duc Nguyen, Timothy Phalen, J. Tambiah, Heekyung Chung, Chi Ching Mak, Carine Bossard, Long Do, Brian Eastman

Publikováno v: Journal of Clinical Oncology. 37:e15185-e15185

e15185 Background: Aberrant activation of Wnt signaling contributing to tumorigenesis is most commonly associated with CRC (90% harbor Wnt pathway mutations). SM08502, a novel, oral Wnt signaling pathway inhibitor, was evaluated in preclinical CRC mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c8b8b08af97ecc5ca2ae6ca0c0603dbb
https://doi.org/10.1200/jco.2019.37.15_suppl.e15185

The heterogeneous health state profiles of high-risk healthcare utilizers and their longitudinal hospital readmission and mortality patterns

Autor: Shawn Choon Wee Ng, Yu Heng Kwan, Shi Yan, Chuen Seng Tan, Lian Leng Low

Publikováno v: BMC Health Services Research, Vol 19, Iss 1, Pp 1-8 (2019)

Abstract Background High-risk patients are most vulnerable during transitions of care. Due to the high burden of resource allocation for such patients, we propose that segmentation of this heterogeneous population into distinct subgroups will enable

Externí odkaz: https://doaj.org/article/39423f48aa9a442b84c486dee7a4fc29