Results 61 to 70 of about 4,748,947 (305)

Genetic polymorphism of the Nrf2 promoter region is associated with vitiligo risk in Han Chinese populations [PDF]

Journal of Cellular and Molecular Medicine, 2016
Abstract The nuclear factor erythroid‐derived two‐like 2‐antioxidant response element (Nrf2‐ ARE ) pathway and its downstream antioxidant enzyme heme oxygenase‐1 ( HMOX 1 or HO ‐1) play essential
Song, Pu, Li, Kai, Liu, Ling, Wang, Xiaowen, Jian, Zhe, Zhang, Weigang, Wang, Gang, Li, Chunying, Gao, Tianwen   +8 more
openaire   +2 more sources

Mechanism of chromatin reassembly at the yeast PHO5 promoter upon repression [PDF]

, 2007
The goal of this study has been to elucidate the mechanisms responsible for rebuilding nucleosomes at the PHO5 promoter upon rerepression. In this work, I could unambiguously show that histones are incorporated at the PHO5 promoter upon repression ...
Schermer, Ulrike
core   +1 more source

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Nature Communications, 2017
Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and ...
Romina Petersen, John J. Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al-Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah A. Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly Kempster, Vasileios Ladopoulos, An-Sofie Lenaerts, Paulina M. Materek, Harriet McKinney, Stuart Meacham, Daniel Mead, Magdolna Nagy, Christopher J. Penkett, Augusto Rendon, Denis Seyres, Benjamin Sun, Salih Tuna, Marie-Elise van der Weide, Steven W. Wingett, Joost H. Martens, Oliver Stegle, Sylvia Richardson, Ludovic Vallier, David J. Roberts, Kathleen Freson, Lorenz Wernisch, Hendrik G. Stunnenberg, John Danesh, Peter Fraser, Nicole Soranzo, Adam S. Butterworth, Johan W. Heemskerk, Ernest Turro, Mikhail Spivakov, Willem H. Ouwehand, William J. Astle, Kate Downes, Myrto Kostadima, Mattia Frontini   +58 more
doaj   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

FEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto, Masatomo So, Ayako Furukawa, Kenji Sugase   +3 more
wiley   +1 more source

Associations between novel genetic variants in the promoter region ofMALAT1and risk of colorectal cancer [PDF]

Oncotarget, 2017
The metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), a well-known long non-coding RNA, is involved in pathogenesis and progress of multiple tumors. However, no study has been performed to investigate the relationship between the genetic variants in promoter region of MALAT1 and colorectal cancer risk.
Li, Yingjun, Bao, Chengzhen, Gu, Simeng, Ye, Ding, Jing, Fangyuan, Fan, Chunhong, Jin, Mingjuan, Chen, Kun   +7 more
openaire   +2 more sources

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Association Between Promoter Polymorphisms in CD46 and CD59 in Kidney Donors and Transplant Outcome

Frontiers in Immunology, 2018
Complement regulating proteins, including CD46, CD55, and CD59, protect cells against self-damage. Because of their expression on the donor endothelium, they are hypothesized to be involved in accommodation.
Laura A. Michielsen, Arjan D. van Zuilen, Tineke Kardol-Hoefnagel, Marianne C. Verhaar, Henny G. Otten   +4 more
doaj   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Functional and genetic characterization of the promoter region of apolipoprotein H (β₂‐glycoprotein I) [PDF]

The FEBS Journal, 2010
This study characterized the human apolipoprotein H [APOH; β2‐glycoprotein I (β2GPI)] promoter and its variants by in vitro functional experiments and investigated their relationship with human plasma β2GPI levels. We examined the individual effects of 12 APOH promoter single nucleotide polymorphisms in the 5′ flanking region of APOH (∼ 1.4 kb) on ...
Sangita, Suresh, F Yesim, Demirci, Iliya, Lefterov, Candace M, Kammerer, Rosalind, Ramsey-Goldman, Susan, Manzi, M Ilyas, Kamboh   +6 more
openaire   +2 more sources

Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II

Frontiers in Audiology and Otology
IntroductionWaardenburg syndrome (WS) is a genetic disorder characterized by hearing loss, hypopigmentation, and distinct facial features. Despite > 60% molecular diagnosis rate for WS patients, pathogenic variants within coding regions are ...
Yu Huang, Yu Huang, Jia Geng, Jia Geng, Yang Long, Wenyu Xiong, Wenyu Xiong, Lu Kang, Lu Kang, Meilin Chen, Meilin Chen, Ting Tang, Ting Tang, Mingjun Zhong, Mingjun Zhong, Fengxiao Bu, Fengxiao Bu, Yu Lu, Yu Lu, Jing Cheng, Jing Cheng, Huijun Yuan, Huijun Yuan   +22 more
doaj   +1 more source