Results 11 to 20 of about 3,939 (151)

DHCR7 inhibition ameliorates MetALD and HCC in mice and human 3D liver spheroids [PDF]

JHEP Reports
Background & Aims: Metabolic dysfunction and alcohol-associated liver disease (MetALD) results in the development of liver steatosis, inflammation, fibrosis, and hepatocellular carcinoma (HCC).
Gen Yamamoto, Raquel Carvalho-Gontijo Weber, Wonseok Lee, Vivian Zhang, Haeum Jang, Sadatsugu Sakane, Xiao Liu, Hyun Young Kim, David A. Brenner, Na Li, Tatiana Kisseleva   +10 more
doaj   +4 more sources

DBP rs7041 and DHCR7 rs3829251 are Linked to CD4+ Recovery in HIV Patients on Antiretroviral Therapy [PDF]

Frontiers in Pharmacology, 2022
Background: The lack of the recovery of CD4+ T-cells (CD4+ recovery) among immunodeficiency virus (HIV)-infected patients on antiretroviral therapy (ART) is not well known. We aimed to analyze the association between single nucleotide polymorphisms (SNPs)
Joaquim Peraire, Salvador Resino, Maria Angeles Jimenez-Sousa   +2 more
exaly   +11 more sources

DHCR7 Expression Predicts Poor Outcomes and Mortality From Sepsis [PDF]

Critical Care Explorations, 2023
IMPORTANCE:. This is a study of lipid metabolic gene expression patterns to discover precision medicine for sepsis. OBJECTIVES:. Sepsis patients experience poor outcomes including chronic critical illness (CCI) or early death (within 14 d).
Faheem W. Guirgis, MD, Vinitha Jacob, MD, PhD, Dongyuan Wu, MS, Morgan Henson, MPH, Kimberly Daly-Crews, BS, MS, Charlotte Hopson, MS, Lauren Page Black, MD, MPH, Elizabeth L. DeVos, MD, MPH, Dawoud Sulaiman, PhD, Guillaume Labilloy, MS, Todd M. Brusko, PhD, Jordan A. Shavit, MD, PhD, Andrew Bertrand, BS, Matthew Feldhammer, PhD, Brett Baskovich, MD, Kiley Graim, PhD, Susmita Datta, PhD, Srinivasa T. Reddy, PhD   +17 more
doaj   +5 more sources

Vulnerability of DHCR7+/− mutation carriers to aripiprazole and trazodone exposure [PDF]

Journal of Lipid Research, 2017
Smith-Lemli-Opitz syndrome is a recessive disorder caused by mutations in 7-dehydrocholesterol reductase (DHCR)7 with a heterozygous (HET) carrier frequency of 1–3%.
Zeljka Korade, Thiago C. Genaro-Mattos, Keri A. Tallman, Wei Liu, Krassimira A. Garbett, Katalin Koczok, Istvan Balogh, Karoly Mirnics, Ned A. Porter   +8 more
doaj   +3 more sources

The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally[S] [PDF]

Journal of Lipid Research, 2015
Cholesterol is essential to human health, and its levels are tightly regulated by a balance of synthesis, uptake, and efflux. Cholesterol synthesis requires the actions of more than twenty enzymes to reach the final product, through two alternate ...
Winnie Luu, Gene Hart-Smith, Laura J. Sharpe, Andrew J. Brown   +3 more
doaj   +3 more sources

Familial DHCR7 genotype presenting as a very mild form of Smith‐Lemli‐Opitz syndrome and lethal holoprosencephaly

JIMD Reports, 2020
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder caused by variants in the DHCR7 gene. In cholesterol biosynthesis, 7‐dehydrocholesterol (7‐DHC) is converted to cholesterol by the enzyme 7‐DHC reductase, which is encoded by ...
SUZANNA Lindsey-Temple
exaly   +2 more sources

Declined RTN3 stabilizes DHCR7 to induce cholesterol-dependent tumor progression and MEK inhibitors insensitivity in thyroid cancer [PDF]

Cell Death and Disease
Mechanism underlying thyroid cancer progression and treatment resistance remains an unsolved problem in clinical practice. Endoplasmic reticulum (ER) proteins modulate cell biosynthesis and mediate tumor progression, among which Reticulon 3 (RTN3) is ...
Anwen Ren, Nan Feng, Tinglin Yang, Zimei Tang, Huan Liu, Yi Li, Qingyi Hu, Zihan Xi, Jiaqing Zhu, Jun Zhou, Jie Ming, Nan Liu, Tao Huang, Ming Xu   +13 more
doaj   +2 more sources

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics & Genomic Medicine
Background Smith‐Lemli‐Opitz syndrome (SLOS) is a common autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene, resulting in a deficiency of the enzyme 7‐dehydrocholesterol reductase.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
doaj   +2 more sources

Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith–Lemli–Opitz Syndrome (SLOS) Models [PDF]

Biomolecules
Smith–Lemli–Opitz syndrome (SLOS) is a developmental disability arising from bi-allelic pathogenic variants in the 7-dehydrocholestrol reductase (DHCR7) enzyme and the accumulation of 7-dehydrocholesterol (7-DHC).
Zeljka Korade, Allison C. Anderson, Marta Balog, Keri A. Tallman, Ned A. Porter, Karoly Mirnics   +5 more
doaj   +2 more sources

The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children

Swiss Medical Weekly, 2012
Vitamin D deficiency is associated with risk in several diseases. Vitamin D status has high heritability, yet the genetic epidemiology of vitamin D or its metabolites has not been well studied.
Yuling Zhang, Xi Wang, Ye Liu, Hui Qu, Shuqiang Qu, Wei Wang, Lihong Ren   +6 more
doaj   +3 more sources