Results 121 to 130 of about 19,123,678 (263)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

The effects of miR-497 suppression on the proliferation and apoptosis of ox-LDL-induced HUVECs.

, 2016
(A) Cell cycle changes detected by a flow cytometer. The cells were stained with PI prior to detection. Suppression of miR-497 could partially increase the percentage of S-phase cells that were reduced by the addition of ox-LDL.
Shenming Wang (181422), Ridong Wu (418007), Mian Wang (153332), Xiangdong Xu (81057), Chen Yao (137375), Shi Tang (495124)   +5 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Changes in LDL-C levels and goal attainment associated with addition of ezetimibe to simvastatin, atorvastatin, or rosuvastatin compared with titrating statin monotherapy

, 2013
JoAnne M Foody,1 Peter P Toth,2 Joanne E Tomassini,3 Shiva Sajjan,3 Dena R Ramey,3 David Neff,3 Andrew M Tershakovec,3 Henry Hu,3 Kaan Tunceli31Brigham and Women's Hospital, Boston, MA, 2CGH Medical Center, Sterling, IL, and University of Illinois ...
Foody JM, Neff D, Tomassini JE, Toth PP, Hu H, Tershakovec AM, Tunceli K, Sajjan S, Ramey DR   +8 more
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

The liver‐brain axis: A multidimensional regulatory network implicated in Alzheimer's disease pathogenesis and clinical implications

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
wiley   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Stabilization of PUFA‐Rich Mayonnaise Against Lipid Oxidation: A Review of the Last Three Decades of Research

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT Mayonnaise, a widely consumed oil‐in‐water emulsion, is highly susceptible to lipid oxidation due to its high content of polyunsaturated fatty acids (PUFAs) and the presence of pro‐oxidant factors such as low pH and iron from egg yolk. Over the past three decades, extensive research has focused on understanding oxidation mechanisms, analytical
Sakhi Ghelichi, Betül Yesiltas, Charlotte Jacobsen   +2 more
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Subanalysis of changes in LDL-C.

, 2015
C: control; I: intervention, MD: mean difference, TC: total cholesterol, LDL-C: low-density lipoprotein cholesterolSubanalysis of changes in LDL-C.
Hiro-omi Tamura (814811), Mikiko Shimizu (205878), Masayuki Hashiguchi (707999), Tsuyoshi Shiga (814810), Mayumi Mochizuki (586821)   +4 more
core   +1 more source