Results 51 to 60 of about 41,559 (188)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

H19 lncRNA alters methylation and expression of Hnf4α in the liver of metformin-exposed fetuses. [PDF]

, 2017
Metformin is the most widely used anti-diabetic medication worldwide. However, human and animal studies suggest that prenatal metformin exposure may increase the risk of metabolic disorders in adult offspring, yet the underpinning mechanism remains ...
Yingqun Huang, Mueller, Martin, Ramillapalli, Ramanaiah, Huang, Yingqun, Hugh S Taylor, Michael Paidas, Tingting Geng, Geng, Tingting, Ya Liu, Deng, Jie, Hou, Peng, Martin Mueller, Ramanaiah Ramillapalli, Paidas, Michael, Taylor, Hugh S, Müller, Martin, Jie Deng, Yuanyuan Shen, Shen, Yuanyuan, Taylor, Hugh S., Liu, Ya, Peng Hou   +21 more
core   +2 more sources

CpG methylation regulates the Igf2/H19 insulator [PDF]

, 2001
The differentially methylated 5′-flank of the mouse H19 gene unidirectionally regulates the communication between enhancer elements and gene promoters and presumably represses maternal Igf2 expression in vivo [1–6].
Mukhopadhya, R, Lobanenkov, V, Holmgren, Claes, Kanduri, Meena, Holmgren, C, Ward, Andrew, Ghislaine Dell, Lobanenkov, Victor, Ohlsson, R,, Ward, A, Rolf Ohlsson, Kanduri, C, Meena Kanduri, Kanduri, Chandrasekhar, Dell, Ghislaine, Mukhopadhya, Rituparna, Dell, G, Victor Lobanenkov, Kanduri, M, Claes Holmgren, Rituparna Mukhopadhya, Chandrasekhar Kanduri, Andrew Ward, Ohlsson, Rolf   +23 more
core   +1 more source

Research progress on the role of inflammatory mediators in the pathogenesis of epilepsy

Ibrain, Volume 11, Issue 1, Page 44-58, Spring 2025.
In the central nervous system, activated immune cells lead to the overproduction of inflammatory mediators through the corresponding signal pathway. Under the stimulation of inflammatory factors, neuroinflammation ultimately occurs. Overexpression of inflammatory mediators and activated immunocytes plays an important role in the emergence and ...
Yue Yu, Fei‐Ji Sun
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Long Non-Coding RNA H19 Positively Associates With Aspirin Resistance in the Patients of Cerebral Ischemic Stroke

Frontiers in Pharmacology, 2020
Background and purposeAspirin is a novel anti-platelet drug that is intensively recommended for the prevention and treatment of cerebral ischemic stroke.
Jue Wang, Bin Cao, Yan Gao, Dong Han, Haiping Zhao, Yuhua Chen, Yumin Luo, Juan Feng, Yanxia Guo   +8 more
doaj   +1 more source

Beyond Reality Avoidance: Unraveling the Paradox of Escapism Through Self‐Monitoring and Autonomy Mechanisms for Consumers' Life Satisfaction

Psychology &Marketing, EarlyView.
ABSTRACT This study introduces the Paradox of Escapism, exploring how the act of escaping reality can evolve from a short‐term avoidance strategy to a mechanism for self‐regulation and enhanced life satisfaction. Employing five rigorous, multimethod investigations, including qualitative interviews and sentiment analysis (Study 1), Structural Equation ...
Thamiris Magalhães de Sousa, Flávio Santino Bizarrias, Thelma Valéria Rocha, Larissa Luz Raposo   +3 more
wiley   +1 more source

Conservation of the H19 noncoding RNA and H19-IGF2 imprinting mechanism in therians

, 2008
Comparisons between eutherians and marsupials suggest limited conservation of the molecular mechanisms that control genomic imprinting in mammals. We have studied the evolution of the imprinted IGF2-H19 locus in therians.
Marilyn B Renfree, Matthews, Lucy, Reik, Wolf, McCarrey, John R, Shaw, Geoffrey G.M., Pask, Andrew J., Geoff Shaw, Smits, Guillaume, Mungall, Andrew J, Renfree, Marilyn B., Ian Dunham, John L VandeBerg, Griffiths-Jones, Sam, Wolf Reik, Paul Smith, Dunham, Ian, Jane Rogers, VandeBerg, John L, Andrew J Mungall, Lucy Matthews, SAVOIR Consortium, Guillaume Smits, Shaw, Geoff, Beury, Delphine, Sam Griffiths-Jones, Pask, Andrew J, Delphine Beury, Smith, Paul, Rogers, Jane, Andrew J Pask, Mungall, Andrew J., VandeBerg, John L., Renfree, Marilyn B, McCarrey, John R., John R McCarrey   +34 more
core   +1 more source

H19 Noncoding RNA, an Independent Prognostic Factor, Regulates Essential Rb-E2F and CDK8-β-Catenin Signaling in Colorectal Cancer

EBioMedicine, 2016
The clinical significance of long noncoding RNAs (lncRNAs) in colorectal cancer (CRC) remains largely unexplored. Here, we analyzed a large panel of lncRNA candidates with The Cancer Genome Atlas (TCGA) CRC dataset, and identified H19 as the most ...
Masahisa Ohtsuka, Hui Ling, Cristina Ivan, Martin Pichler, Daisuke Matsushita, Matthew Goblirsch, Verena Stiegelbauer, Kunitoshi Shigeyasu, Xinna Zhang, Meng Chen, Fnu Vidhu, Geoffrey A. Bartholomeusz, Yuji Toiyama, Masato Kusunoki, Yuichiro Doki, Masaki Mori, Shumei Song, Jillian R. Gunther, Sunil Krishnan, Ondrej Slaby, Ajay Goel, Jaffer A. Ajani, Milan Radovich, George A. Calin   +23 more
doaj   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source