PMC Links for OMIM (Select 184756) - PMC - NCBI

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Items: 7

Select item 73326431.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M. Kroisel, Gianluca Tadini, Scott D. Walter, Fabian Hauck, Katta M. Girisha, Anne-Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buness, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl-Heinz Grzeschik, Regina C. Betz, Zhimiao Lin

Am J Hum Genet. 2020 Jul 2; 107(1): 34–45. Published online 2020 Jun 3. doi: 10.1016/j.ajhg.2020.05.006

PMCID:: PMC7332643

Abstract Article PDF–1.8M

Select item 38405002.

MicroRNA-33 and the SREBP Host Genes Cooperate to Control Cholesterol Homeostasis

S. Hani Najafi-Shoushtari, Fjoralba Kristo, Yingxia Li, Toshi Shioda, David E. Cohen, Robert E. Gerszten, Anders M. Näär

Science. Author manuscript; available in PMC 2013 Nov 26.

Published in final edited form as: Science. 2010 Jun 18; 328(5985): 10.1126/science.1189123. Published online 2010 May 13. doi: 10.1126/science.1189123

PMCID:: PMC3840500

Abstract Article PDF–1.0M

Select item 30267203.

Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation

Guoliang Cui, Xia Qin, Lili Wu, Yuebo Zhang, Xiaoyan Sheng, Qiwen Yu, Hongguang Sheng, Beili Xi, Jingwu Z. Zhang, Ying Qin Zang

J Clin Invest. 2011 Feb 1; 121(2): 658–670. Published online 2011 Jan 25. doi: 10.1172/JCI42974

PMCID:: PMC3026720

Abstract Article PDF–5.8M

Select item 11879624.

Hyperphosphorylation regulates the activity of SREBP1 during mitosis

Maria T. Bengoechea-Alonso, Tanel Punga, Johan Ericsson

Proc Natl Acad Sci U S A. 2005 Aug 16; 102(33): 11681–11686. Published online 2005 Aug 4. doi: 10.1073/pnas.0501494102

PMCID:: PMC1187962

Abstract Article PDF–473K

Select item 5084045.

Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene.

H Shimano, I Shimomura, R E Hammer, J Herz, J L Goldstein, M S Brown, J D Horton

J Clin Invest. 1997 Oct 15; 100(8): 2115–2124. doi: 10.1172/JCI119746

PMCID:: PMC508404

Summary PDF–454K

Select item 5078906.

Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells.

I Shimomura, H Shimano, J D Horton, J L Goldstein, M S Brown

J Clin Invest. 1997 Mar 1; 99(5): 838–845. doi: 10.1172/JCI119247

PMCID:: PMC507890

Summary PDF–398K

Select item 3172157.

Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy

Iichiro Shimomura, Robert E. Hammer, James A. Richardson, Shinji Ikemoto, Yuriy Bashmakov, Joseph L. Goldstein, Michael S. Brown

Genes Dev. 1998 Oct 15; 12(20): 3182–3194. doi: 10.1101/gad.12.20.3182

PMCID:: PMC317215

Abstract Article PDF–2.6M

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