Results 91 to 100 of about 3,615 (181)

Genetic Determinants of the Familial Hypercholesterolaemia Phenotype

Annals of Human Genetics, Volume 89, Issue 5, Page 293-304, September 2025.
ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley   +1 more source

Sustained microglial depletion with CSF1R inhibitor impairs parenchymal plaque development in an Alzheimer's disease model. [PDF]

, 2019
Many risk genes for the development of Alzheimer's disease (AD) are exclusively or highly expressed in myeloid cells. Microglia are dependent on colony-stimulating factor 1 receptor (CSF1R) signaling for their survival.
Bollag, Gideon, Broome, Stephanie, Burton, Elizabeth A, Crapser, Joshua, Green, Kim N, Habets, Gaston, Hohsfield, Lindsay A, Ibrahim, Prabha, Lin, Jack, Nespi, Marika, Phan, Nicole Y, Rymar, Andrey, Severson, Paul L, Singh, Parmveer, Spangenberg, Elizabeth, Spevak, Wayne, Tsang, Garson, Walters, Jason, West, Brian L, Zhang, Chao, Zhang, Jiazhong, Zhang, Ying   +21 more
core  

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus [PDF]

, 2014
Gene-regulatory network analysis is a powerful approach to elucidate the molecular processes and pathways underlying complex disease. Here we employ systems genetics approaches to characterize the genetic regulation of pathophysiological pathways in ...
Becker, AJ, Behmoaras, J, Bottolo, L, Chadeau-Hyam, M, Cichon, S, Coffey, AJ, Cunliffe, VT, Dabrowska, A, Danis, B, De Paola, V, De, T, Eriksson, J, Foerch, P, Grillo, FW, Hajji, N, Hoffmann, P, Johnson, MR, Kaminski, RM, Kovac, S, Krishnan, ML, Langley, SR, Mattheisen, M, Mazzuferi, M, Niehusmann, P, O'Brien, TJ, Pernhorst, K, Petretto, E, Petrovski, S, Razzaghi, B, Roncon, P, Rossetti, T, Rotival, M, Santoscoy, PL, Schoch, S, Shkura, K, Simonato, M, Slaviero, A, Speed, D, Srivastava, PK, Von Lehe, M, Walker, M, Wanisch, K   +41 more
core   +1 more source

Sterol imbalances and cholesterol‐24‐hydroxylase dysregulation is linked to the underlying progression of multiple sclerosis

Brain Pathology, Volume 35, Issue 5, September 2025.
We have sought to determine the role that cholesterol metabolism plays in disability worsening and its correlation with progressive MS by analysing patient CSF and post‐mortem tissues using cutting edge mass spectrometry approaches. Key sterol metabolites measured in the CSF link with important disability milestones at the very early stages of MS ...
Lauren Griffiths, Kristen Hawkins, Eylan Yutuc, Roberto Angelini, Racheal Fosuah, Manuela Pacciarini, Alison Dickson, Neil Robertson, Laura Childs, Samantha Loveless, Emma Tallantyre, William J. Griffiths, Yuqin Wang, Owain W. Howell   +13 more
wiley   +1 more source

Regulating Innate and Adaptive Immunity for Controlling SIV Infection by 25-Hydroxycholesterol

Frontiers in Immunology, 2018
Persistent inflammation and extensive immune activation have been associated with HIV-1/SIV pathogenesis. Previously, we reported that cholesterol-25-hydroxylase (CH25H) and its metabolite 25-hydroxycholesterol (25-HC) had a broad antiviral activity in ...
Tongjin Wu, Tongjin Wu, Tongjin Wu, Feng Ma, Feng Ma, Xiuchang Ma, Weizhe Jia, Weizhe Jia, Enxiang Pan, Genhong Cheng, Genhong Cheng, Genhong Cheng, Ling Chen, Caijun Sun, Caijun Sun   +14 more
doaj   +1 more source

Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease [PDF]

, 2007
Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP) is associated with germline mutations in the APC gene, which result in ...
Nikola A Bowden, Amanda Croft, Rodney J Scott   +2 more
core   +1 more source

Dysregulated Cholesterol Metabolism and Its Impact on the Tumour Immune Response in Colorectal Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 15, August 2025.
ABSTRACT Colorectal cancer (CRC) ranks among the primary causes of cancer deaths worldwide. Cholesterol metabolism, tightly regulated through biosynthesis, uptake, efflux and conversion, plays a crucial role in CRC development and progression. Dysregulated cholesterol metabolism in cancer cells alters the tumour microenvironment (TME), promoting tumour
Chunyu Zhang, Zhiwei Miao, Yan Xu, Xingchao Zhu, Tongguo Shi   +4 more
wiley   +1 more source

LPS-TLR4 Pathway mediates ductular cell expansion in alcoholic hepatitis. [PDF]

, 2017
Alcoholic hepatitis (AH) is the most severe form of alcoholic liver disease for which there are no effective therapies. Patients with AH show impaired hepatocyte proliferation, expansion of inefficient ductular cells and high lipopolysaccharide (LPS ...
Affò, Silvia, Altamirano, José, Arroyo, Vicente, Bataller Alberola, Ramón, Caballeria Rovira, Joan, Chen, Jiegen, Crews, Fulton, Dumitru, Raluca, Ginès i Gibert, Pere, Lozano Salvatella, Juan José, Matsushita, Hiroshi, Morales-Ibanez, Oriol, Odena, Gemma, Rautou, Pierre-Emmanuel, Rodrigo Torres, Daniel, Sancho Bru, Pau, Seki, Ekihiro, Valla, Dominique, You, Min, Zou, Jian   +19 more
core   +1 more source

Transgenic tomatoes expressing the 6F peptide and ezetimibe prevent diet-induced increases of IFN-β and cholesterol 25-hydroxylase in jejunum

Journal of Lipid Research, 2017
Feeding LDL receptor (LDLR)-null mice a Western diet (WD) increased the expression of IFN-β in jejunum as determined by quantitative RT-PCR (RT-qPCR), immunohistochemistry (IHC), and ELISA (all P < 0.0001). WD also increased the expression of cholesterol
Pallavi Mukherjee, Greg Hough, Arnab Chattopadhyay, Mohamad Navab, Hannah R. Fogelman, David Meriwether, Kevin Williams, Steven Bensinger, Travis Moller, Kym F. Faull, Aldons J. Lusis, M. Luisa Iruela-Arispe, Kristina I. Bostrom, Peter Tontonoz, Srinivasa T. Reddy, Alan M. Fogelman   +15 more
doaj   +1 more source

A genome-wide association analysis for porcine serum lipid traits reveals the existence of age-specific genetic determinants [PDF]

, 2014
Background: The genetic determinism of blood lipid concentrations, the main risk factor for atherosclerosis, is practically unknown in species other than human and mouse.
Amills i Eras, Marcel, Aznarez, Nitdia, Casellas, Joaquim, Castelló, Anna, González-Prendes, Rayner, Hernández-Sánchez, Jules, Manunza, Arianna, Mercadé Carceller, Anna, Pena i Subirà, Ramona Natacha, Quintanilla Aguado, Raquel, Tibau, Joan   +10 more
core   +5 more sources