Results 41 to 50 of about 1,719 (107)

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Orphanet Journal of Rare Diseases, 2021
Background Smith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital ...
Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki   +3 more
doaj   +1 more source

Antiviral Nanobiologic Therapy Remodulates Innate Immune Responses to Highly Pathogenic Coronavirus

Advanced Science, 2023
Highly pathogenic coronavirus (CoV) infection induces a defective innate antiviral immune response coupled with the dysregulated release of proinflammatory cytokines and finally results in acute respiratory distress syndrome (ARDS).
Xuan Liu, Lunzhi Yuan, Jijing Chen, Yali Zhang, Peiwen Chen, Ming Zhou, Jiaxuan Xie, Jian Ma, Jianzhong Zhang, Kun Wu, Qiyi Tang, Quan Yuan, Huachen Zhu, Tong Cheng, Yi Guan, Gang Liu, Ningshao Xia   +16 more
doaj   +1 more source

Vitamin D insufficiency in Arabs and South Asians positively associates with polymorphisms in GC and CYP2R1 genes. [PDF]

PLoS ONE, 2014
A number of genetic studies have reported an association between vitamin D related genes such as group-specific component gene (GC), Cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1) and 7-dehydrocholesterol reductase/nicotinamide-adenine ...
Naser Elkum, Fadi Alkayal, Fiona Noronha, Maisa M Ali, Motasem Melhem, Monira Al-Arouj, Abdullah Bennakhi, Kazem Behbehani, Osama Alsmadi, Jehad Abubaker   +9 more
doaj   +1 more source

Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia

Frontiers in Genetics, 2021
BackgroundNumerous research studies have found an association between vitamin D (vitD) status and single-nucleotide polymorphisms (SNPs) in genes involved in vitD metabolism. It is notable that the influence of these SNPs on 25-hydroxyvitamin D [25(OH)D]
Shatha Alharazy, Muhammad Imran Naseer, Muhammad Imran Naseer, Eman Alissa, Margaret Denise Robertson, Susan Lanham-New, Adeel G. Chaudhary, Adeel G. Chaudhary, Adeel G. Chaudhary   +8 more
doaj   +1 more source

Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome

Molecular Genetics and Metabolism Reports, 2014
Smith–Lemli–Opitz Syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol.
Shaohua Chang, Gongyi Ren, Robert D. Steiner, Louise Merkens, Jean-Baptiste Roullet, Zeljka Korade, Paul J. DiMuzio, Thomas N. Tulenko   +7 more
doaj   +1 more source

The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols

Journal of Lipid Research, 2006
Mice with a targeted mutation of 3β-hydroxysterol Δ7-reductase (Dhcr7) that cannot convert 7-dehydrocholesterol to cholesterol were used to identify the origin of fetal sterols.
G.S. Tint, Hongwei Yu, Quan Shang, Guorong Xu, Shailendra B. Patel   +4 more
doaj   +1 more source

microRNAs: A connection between cholesterol metabolism and neurodegeneration

Neurobiology of Disease, 2014
Dysregulation of cholesterol metabolism in the brain has been associated with many neurodegenerative disorders such as Alzheimer's disease, Niemann–Pick type C disease, Smith–Lemli–Opitz syndrome, Hungtington's disease and Parkinson's disease ...
Leigh Goedeke, Carlos Fernández-Hernando   +1 more
doaj   +1 more source

TMEM147 aggravates the progression of HCC by modulating cholesterol homeostasis, suppressing ferroptosis, and promoting the M2 polarization of tumor-associated macrophages

Journal of Experimental & Clinical Cancer Research, 2023
Background The endoplasmic reticulum (ER) regulates critical processes, including lipid synthesis, which are affected by transmembrane proteins localized in the ER membrane.
Jingjing Huang, Huayang Pan, Jing Sun, Jiaming Wu, Qiyue Xuan, Jinge Wang, Shanjia Ke, Shounan Lu, Zihao Li, Zhigang Feng, Yongliang Hua, Qingan Yu, Bing Yin, Baolin Qian, Menghua Zhou, Yanan Xu, Miaoyu Bai, Yingmei Zhang, Yaohua Wu, Yong Ma, Hongchi Jiang, Wenjie Dai   +21 more
doaj   +1 more source

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   +1 more source

Spinal 7-dehydrocholesterol reductase dependent cholesterol overload regulates astrocyte activation and mGluR5/ERK cascades via monocyte chemotactic protein 3 in tibial fracture-induced chronic pain in mice

Neuroscience Research
Patients with bone fractures commonly experience an exasperating and long-lasting pain following orthopedic procedures. Spinal monocyte chemotactic protein 3 (MCP-3)-encoding astrogliosis and mGluR5-mediated excitatory synaptic plasticity are essential ...
Chao Qi, Jian Zhao, Donghui Guo, Shiqiang Ma, Hengjun Wang, Xingyue Wang, Hao Zhou, Zhenhui Huo, Xiaoming Li, Xin Fu, Jun Liu   +10 more
doaj   +1 more source