Loading…
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
Get full text
Journal Article
Loading…
Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
Amiel, Jeanne, Rio, Marlène, Pontual, Loïc de, Redon, Richard, Malan, Valérie, Boddaert, Nathalie, Plouin, Perrine, Carter, Nigel P., Lyonnet, Stanislas, Munnich, Arnold, Colleaux, Laurence
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
Get full text
Journal Article
Loading…
AHRR methylation predicts smoking status and smoking intensity in both saliva and blood DNA
Philibert, Robert, Dogan, Meeshanthini, Beach, Steven R. H., Mills, James A., Long, Jeffrey D.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2020)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.01.2020)
Get full text
Journal Article
Loading…
Loading…
Rfx6 directs islet formation and insulin production in mice and humans
Smith, Stuart B., Qu, Hui-Qi, Taleb, Nadine, Kishimoto, Nina Y., Scheel, David W., Lu, Yang, Patch, Ann-Marie, Grabs, Rosemary, Wang, Juehu, Lynn, Francis C., Miyatsuka, Takeshi, Mitchell, John, Seerke, Rina, Désir, Julie, Eijnden, Serge Vanden, Abramowicz, Marc, Kacet, Nadine, Weill, Jacques, Renard, Marie-Ève, Gentile, Mattia, Hansen, Inger, Dewar, Ken, Hattersley, Andrew T., Wang, Rennian, Wilson, Maria E., Johnson, Jeffrey D., Polychronakos, Constantin, German, Michael S.
Published in Nature (London) (11.02.2010)
Published in Nature (London) (11.02.2010)
Get full text
Journal Article
Loading…
Loading…
Transgenic expression of the proneural transcription factor Ascl1 in Müller glia stimulates retinal regeneration in young mice
Ueki, Yumi, Wilken, Matthew S., Cox, Kristen E., Chipman, Laura, Jorstad, Nikolas, Sternhagen, Kristen, Simic, Milesa, Ullom, Kristy, Nakafuku, Masato, Reh, Thomas A.
Published in Proceedings of the National Academy of Sciences - PNAS (03.11.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (03.11.2015)
Get full text
Journal Article
Loading…
NEUROD1‐deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features
Horikawa, Yukio, Enya, Mayumi, Mabe, Hiroyo, Fukushima, Kei, Takubo, Noriyuki, Ohashi, Masaaki, Ikeda, Fuki, Hashimoto, Ken‐ichi, Watada, Hirotaka, Takeda, Jun
Published in Pediatric diabetes (01.03.2018)
Published in Pediatric diabetes (01.03.2018)
Get full text
Journal Article
Loading…
Loading…
Loading…
Epigenome-wide meta-analysis of PTSD across 10 military and civilian cohorts identifies methylation changes in AHRR
Smith, Alicia K., Ratanatharathorn, Andrew, Maihofer, Adam X., Naviaux, Robert K., Aiello, Allison E., Amstadter, Ananda B., Ashley-Koch, Allison E., Baker, Dewleen G., Beckham, Jean C., Boks, Marco P., Bromet, Evelyn, Dennis, Michelle, Galea, Sandro, Garrett, Melanie E., Geuze, Elbert, Guffanti, Guia, Hauser, Michael A., Katrinli, Seyma, Kilaru, Varun, Kessler, Ronald C., Kimbrel, Nathan A., Koenen, Karestan C., Kuan, Pei-Fen, Li, Kefeng, Logue, Mark W., Lori, Adriana, Luft, Benjamin J., Miller, Mark W., Naviaux, Jane C., Nugent, Nicole R., Qin, Xuejun, Ressler, Kerry J., Risbrough, Victoria B., Rutten, Bart P. F., Stein, Murray B., Ursano, Robert J., Vermetten, Eric, Vinkers, Christiaan H., Wang, Lin, Youssef, Nagy A., Uddin, Monica, Nievergelt, Caroline M.
Published in Nature communications (24.11.2020)
Published in Nature communications (24.11.2020)
Get full text
Journal Article
Loading…
Amphipathic helical peptides hamper protein-protein interactions of the intrinsically disordered chromatin nuclear protein 1 (NUPR1)
Santofimia-Castaño, Patricia, Rizzuti, Bruno, Abián, Olga, Velázquez-Campoy, Adrián, Iovanna, Juan L., Neira, José L.
Published in Biochimica et biophysica acta. General subjects (01.06.2018)
Published in Biochimica et biophysica acta. General subjects (01.06.2018)
Get full text
Journal Article
Loading…
EPAS1 regulates proliferation of erythroblasts in chronic mountain sickness
Liu, Huihui, Tang, Feng, Su, Juan, Ma, Jie, Qin, Yajing, Ji, Linhua, Geng, Hui, Wang, Shengyan, Zhang, Peili, Liu, Junli, Cui, Sen, Ge, Ri-li, Li, Zhanquan
Published in Blood cells, molecules, & diseases (01.09.2020)
Published in Blood cells, molecules, & diseases (01.09.2020)
Get full text
Journal Article
Loading…
MicroRNA-205 promotes cell invasion by repressing TCF21 in human ovarian cancer
Wei, Jun, Zhang, Lahong, Li, Jennifer, Zhu, Shuguang, Tai, Minghui, Mason, Clifford W., Chapman, Julia A., Reynolds, Evelyn A., Weiner, Carl P, Zhou, Helen H
Published in Journal of ovarian research (05.05.2017)
Published in Journal of ovarian research (05.05.2017)
Get full text
Journal Article
Loading…
P/CAF-mediated acetylation regulates the function of the basic helix-loop-helix transcription factor TAL1/SCL
Huang, Suming, Qiu, Yi, Shi, Yubin, Xu, Zhixiong, Brandt, Stephen J.
Published in The EMBO journal (15.12.2000)
Published in The EMBO journal (15.12.2000)
Get full text
Journal Article
Loading…
Phytochrome‐imposed oscillations in PIF3 protein abundance regulate hypocotyl growth under diurnal light/dark conditions in Arabidopsis
Soy, Judit, Leivar, Pablo, González‐Schain, Nahuel, Sentandreu, Maria, Prat, Salomé, Quail, Peter H, Monte, Elena
Published in The Plant journal : for cell and molecular biology (01.08.2012)
Published in The Plant journal : for cell and molecular biology (01.08.2012)
Get full text
Journal Article
Loading…
De novo lipogenesis in human fat and liver is linked to ChREBP-β and metabolic health
Eissing, Leah, Scherer, Thomas, Tödter, Klaus, Knippschild, Uwe, Greve, Jan Willem, Buurman, Wim A., Pinnschmidt, Hans O., Rensen, Sander S., Wolf, Anna M., Bartelt, Alexander, Heeren, Joerg, Buettner, Christoph, Scheja, Ludger
Published in Nature communications (2013)
Published in Nature communications (2013)
Get full text
Journal Article
Loading…
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy
Mootha, V. Vinod, Hussain, Imran, Cunnusamy, Khrishen, Graham, Eric, Gong, Xin, Neelam, Sudha, Xing, Chao, Kittler, Ralf, Petroll, W. Matthew
Published in Investigative ophthalmology & visual science (01.03.2015)
Published in Investigative ophthalmology & visual science (01.03.2015)
Get full text
Journal Article
Loading…
Endothelial FUNDC1 Deficiency Drives Pulmonary Hypertension
Pei, Yandong, Ren, Dongfeng, Yin, Yuanhao, Shi, Jiajia, Ai, Qianyuan, Hao, Wenxin, Luo, Xiaofan, Zhang, Chenyue, Zhao, Yanping, Bai, Chenyu, Zhu, Lin, Wang, Qiong, Li, Shuangling, Zhang, Yuwei, Lu, Jiangtao, Liu, Lin, Zhou, Lin, Wu, Yuli, Weng, Yiqi, Jing, Yongle, Lu, Chengzhi, Cui, Yujie, Zheng, Hao, Li, Yanjun, Chen, Guo, Hu, Gang, Chen, Quan, Liao, Xudong
Published in Circulation research (17.01.2025)
Published in Circulation research (17.01.2025)
Get full text
Journal Article