Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

Autor: Anubha Mahajan, Xueling Sim, Hui Jin Ng, Alisa Manning, Manuel A Rivas, Heather M Highland, Adam E Locke, Niels Grarup, Hae Kyung Im, Pablo Cingolani, Jason Flannick, Pierre Fontanillas, Christian Fuchsberger, Kyle J Gaulton, Tanya M Teslovich, N William Rayner, Neil R Robertson, Nicola L Beer, Jana K Rundle, Jette Bork-Jensen, Claes Ladenvall, Christine Blancher, David Buck, Gemma Buck, Noël P Burtt, Stacey Gabriel, Anette P Gjesing, Christopher J Groves, Mette Hollensted, Jeroen R Huyghe, Anne U Jackson, Goo Jun, Johanne Marie Justesen, Massimo Mangino, Jacquelyn Murphy, Matt Neville, Robert Onofrio, Kerrin S Small, Heather M Stringham, Ann-Christine Syvänen, Joseph Trakalo, Goncalo Abecasis, Graeme I Bell, John Blangero, Nancy J Cox, Ravindranath Duggirala, Craig L Hanis, Mark Seielstad, James G Wilson, Cramer Christensen, Ivan Brandslund, Rainer Rauramaa, Gabriela L Surdulescu, Alex S F Doney, Lars Lannfelt, Allan Linneberg, Bo Isomaa, Tiinamaija Tuomi, Marit E Jørgensen, Torben Jørgensen, Johanna Kuusisto, Matti Uusitupa, Veikko Salomaa, Timothy D Spector, Andrew D Morris, Colin N A Palmer, Francis S Collins, Karen L Mohlke, Richard N Bergman, Erik Ingelsson, Lars Lind, Jaakko Tuomilehto, Torben Hansen, Richard M Watanabe, Inga Prokopenko, Josee Dupuis, Fredrik Karpe, Leif Groop, Markku Laakso, Oluf Pedersen, Jose C Florez, Andrew P Morris, David Altshuler, James B Meigs, Michael Boehnke, Mark I McCarthy, Cecilia M Lindgren, Anna L Gloyn, T2D-GENES consortium and GoT2D consortium

Publikováno v: PLoS Genetics, Vol 11, Iss 1, p e1004876 (2015)

Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contrib

Externí odkaz: https://doaj.org/article/cec1ab88480748b08bff91f2f1d31386

HNF4A Haploinsufficiency in MODY1 Abrogates Liver and Pancreas Differentiation from Patient-Derived Induced Pluripotent Stem Cells

Autor: Natasha Hui Jin Ng, Joanita Binte Jasmen, Chang Siang Lim, Hwee Hui Lau, Vidhya Gomathi Krishnan, Juned Kadiwala, Rohit N. Kulkarni, Helge Ræder, Ludovic Vallier, Shawn Hoon, Adrian Kee Keong Teo

Publikováno v: iScience, Vol 16, Iss , Pp 192-205 (2019)

Summary: Maturity-onset diabetes of the young 1 (MODY1) is a monogenic diabetes condition caused by heterozygous HNF4A mutations. We investigate how HNF4A haploinsufficiency from a MODY1/HNF4A mutation influences the development of foregut-derived li

Externí odkaz: https://doaj.org/article/a1abfe83df4245a69333e08ebafd2f68

Chromatin Immunoprecipitation in Human Pluripotent Stem Cell-Derived 3D Organoids to Analyze DNA-Protein Interactions

Autor: Wei Xuan, Tan, Chek Mei, Bok, Natasha Hui Jin, Ng, Adrian Kee Keong, Teo

Publikováno v: Methods in molecular biology (Clifton, N.J.). 2429

Chromatin immunoprecipitation (ChIP) is a technique that has been widely used to interrogate DNA-protein interactions in cells. In recent years, human pluripotent stem cell (hPSC)-derived 3D organoids have emerged as a powerful model to understand hu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::11c6b946a39201d1ab9f1fc372eb2287
https://pubmed.ncbi.nlm.nih.gov/35507164

Insights from single cell studies of human pancreatic islets and stem cell-derived islet cells to guide functional beta cell maturation in vitro

Autor: Natasha Hui Jin, Ng, Claire Wen Ying, Neo, Shirley Suet Lee, Ding, Adrian Kee Keong, Teo

Publikováno v: Vitamins and hormones. 116

There is now a sizeable number of single cell transcriptomics studies performed on human and rodent pancreatic islets that have shed light on the unique gene signatures and level of heterogeneity within each individual islet cell type. Following clos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ab322b82e4b2acc6786c6810ed0de846
https://pubmed.ncbi.nlm.nih.gov/33752818

BCL-xL/BCL2L1 is a critical anti-apoptotic protein that promotes the survival of differentiating pancreatic cells from human pluripotent stem cells

Autor: Hyungwon Choi, Xavier Roca, Larry Sai Weng Loo, Andreas Alvin Purnomo Soetedjo, Natasha Hui Jin Ng, Soumita Ghosh, Shawn Hoon, Adrian Kee Keong Teo, Vidhya Gomathi Krishnan, Linh Nguyen, Hwee Hui Lau

Publikováno v: Cell Death & Disease
Cell Death and Disease, Vol 11, Iss 5, Pp 1-18 (2020)

The differentiation of human pluripotent stem cells into pancreatic cells involves cellular proliferation and apoptosis during cell fate transitions. However, their implications for establishing cellular identity are unclear. Here, we profiled the ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c14d250ccf6080d33f6a306337de3d8f
https://pubmed.ncbi.nlm.nih.gov/32424151