Results 31 to 40 of about 1,719 (107)

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 E. L. Temple, Rani Sachdev, Carolyn Ellaway   +2 more
doaj   +1 more source

Identification of genes involved in chicken follicle selection by ONT sequencing on granulosa cells

Frontiers in Genetics, 2023
In chickens, follicle selection is an important process affecting laying traits, which is characterized by the differentiation of granulosa cells and the synthesis of progesterone by granulosa cells from hierarchical follicles.
Dandan Li, Conghao Zhong, Yi Sun, Li Kang, Yunliang Jiang   +4 more
doaj   +1 more source

Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells[S]

Journal of Lipid Research, 2013
Recent studies suggest that 7-dehydrocholesterol (7-DHC)-derived oxysterols play important roles in the pathophysiology of Smith-Lemli-Opitz syndrome (SLOS), a metabolic disorder that is caused by defective 3β-hydroxysterol-Δ7-reductase (DHCR7). Although
Libin Xu, Zeljka Korade, Dale A. Rosado, Jr., Karoly Mirnics, Ned A. Porter   +4 more
doaj   +1 more source

Effect of DHCR7 on adipocyte differentiation in goats

Animal Biotechnology
Cholesterol is regarded as a signaling molecule in regulating the metabolism and function of fat cells, in which 7-Dehydrocholesterol reductase (DHCR7) is a key enzyme that catalyzes the conversion of 7-dehydrocholesterol to cholesterol, however, the ...
Zhibin Li, Tingting Hu, Ruiwen Li, Jinlan Li, Youli Wang, Yanyan Li, Yaqiu Lin, Yong Wang, Xing Jiani   +8 more
doaj   +1 more source

DHCR7 Expression Predicts Poor Outcomes and Mortality From Sepsis

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   +1 more source

Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome

Scientific Reports, 2018
Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL ...
Steven J. Fliesler, Neal S. Peachey, Josi Herron, Kelly M. Hines, Nadav I. Weinstock, Sriganesh Ramachandra Rao, Libin Xu   +6 more
doaj   +1 more source

Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention

Molecules, 2018
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily ...
Steven J. Fliesler, Libin Xu
doaj   +1 more source

Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis

Nature Communications
Recent evidence indicates ferroptosis is implicated in the pathophysiology of various liver diseases; however, the organ-specific regulation mechanism is poorly understood.
Naoya Yamada, Tadayoshi Karasawa, Junya Ito, Daisuke Yamamuro, Kazushi Morimoto, Toshitaka Nakamura, Takanori Komada, Chintogtokh Baatarjav, Yuma Saimoto, Yuka Jinnouchi, Kazuhisa Watanabe, Kouichi Miura, Naoya Yahagi, Kiyotaka Nakagawa, Takayoshi Matsumura, Ken-ichi Yamada, Shun Ishibashi, Naohiro Sata, Marcus Conrad, Masafumi Takahashi   +19 more
doaj   +1 more source

Chronic Aripiprazole and Trazodone Polypharmacy Effects on Systemic and Brain Cholesterol Biosynthesis

Biomolecules, 2023
The concurrent use of several medications is a common practice in the treatment of complex psychiatric conditions. One such commonly used combination is aripiprazole (ARI), an antipsychotic, and trazodone (TRZ), an antidepressant.
Zeljka Korade, Allison Anderson, Marta Balog, Keri A. Tallman, Ned A. Porter, Karoly Mirnics   +5 more
doaj   +1 more source

Novel oxysterols observed in tissues and fluids of AY9944-treated rats: a model for Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2011
Treatment of Sprague-Dawley rats with AY9944, an inhibitor of 3β-hydroxysterol-Δ7-reductase (Dhcr7), leads to elevated levels of 7-dehydrocholesterol (7-DHC) and reduced levels of cholesterol in all biological tissues, mimicking the key biochemical ...
Libin Xu, Wei Liu, Lowell G. Sheflin, Steven J. Fliesler, Ned A. Porter   +4 more
doaj   +1 more source