Results 71 to 80 of about 3,939 (151)

Genotypic variability based association identifies novel non-additive loci DHCR7 and IRF4 in sero-negative rheumatoid arthritis

Scientific Reports, 2017
Sero-negative rheumatoid arthritis (RA) is a highly heterogeneous disorder with only a few additive loci identified to date. We report a genotypic variability-based genome-wide association study (vGWAS) of six cohorts of sero-negative RA recruited in ...
Wen-Hua Wei, Sebastien Viatte, Tony R. Merriman, Anne Barton, Jane Worthington   +4 more
doaj   +1 more source

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

Molecular Genetics and Metabolism Reports, 2015
Smith Lemli Opitz syndrome (SLOS) is an inherited malformation and mental retardation metabolic disorder with no cure. Mutations in the last enzyme of the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7), lead to cholesterol ...
Saloni Pasta, Omoye Akhile, Dorothy Tabron, Flora Ting, Cedric Shackleton, Gordon Watson   +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

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

The regulation of DHCR7 - a key enzyme in cholesterol synthesis

, 2016
Cholesterol is a vital lipid for mammalian life. It is essential for the structure of cell membranes, fetal development, and as a precursor for steroid hormones. However, in excess, cholesterol can be damaging to health. Thus, cellular cholesterol levels are under tight control. Previous research has focused on an early step in cholesterol synthesis: 3-
openaire   +2 more sources

DHCR7 is a potential pan cancer biomarker for prognosis and immunotherapy

Abstract Background 7-dehydrocholesterol reductase (DHCR7) is a key enzyme involving the final step of cholesterol synthesis pathway. Abnormalities in the DHCR7 gene can lead to a variety of diseases, such as Smith-Lemli-Opitz syndrome. However, the relationship between DHCR7 and oncogenesis remain unclear.
Xianghua Wu, Qinyuan Gong, Xiaoliang Xu, Li Wang, Xuzhao Zhang, Teng Yu, Gesheng Zhu, Weiwei Zheng, Dan Lin, Zhaoxing Wu   +9 more
openaire   +1 more source

Regulation of septin filament formation and cholesterol production by DHCR7

, 2013
Elektronenmikroskopie (EM) ist eine hervorragende Methode um die Struktur von Proteinkomplexen in ihrer nativen Umgebung zu studieren. In dieser Arbeit verwendeten wir zum einen Einzelpartikelelektronenmikroskopie und Elektronenktomographie um die Struktur von Septinfilamenten und deren Interaktion mit anderen Proteinen zu untersuchen.
openaire   +3 more sources

Identification and validation of DHCR7 as a diagnostic biomarker involved in the proliferation and mitochondrial function of breast cancer

Aging
Energy metabolism has a complex intersection with pathogenesis and development of breast cancer (BC). This allows for the possibility of identifying energy-metabolism-related genes (EMRGs) as novel prognostic biomarkers for BC. 7-dehydrocholesterol reductase (DHCR7) is a key enzyme of cholesterol biosynthesis involved in many cancers, and in this paper,
Wang, Yanfeng, Fan, Jiaxin, Liu, Yongcheng, Du, Jie, Liang, Boyu, Wang, Huxia, Song, Zhangjun   +6 more
openaire   +2 more sources

Genetic features of sensitivity to vitamin D and prevalence of vitamin D deficiency among outpatients [PDF]

РМЖ. Мать и дитя, 2018
Genetic features of sensitivity to vitamin D and prevalence  of vitamin D deficiency among outpatients A.Yu. Poluektova1, E.Yu. Martynova2, I.R. Fatkhutdinov3, T.Yu. Demidova3, Yu.E.
A.Yu. Poluektova, E.Yu. Martynova, I.R. Fatkhutdinov, T.Yu. Demidova, Yu.E. Poteshkin   +4 more
doaj  

Delayed Diagnosis of Low Phospholipid-Associated Cholelithiasis Syndrome, Consideration of DHCR7 Mutations. [PDF]

ACG Case Rep J
Meltzer OA, Medina SP, Ibarra A, Davis BG, Goldman ML, Mukhtar NA.   +5 more
europepmc   +1 more source