Results 111 to 120 of about 3,939 (151)

Combining machine learning and molecular docking to unravel the molecular network of bladder cancer induced by 2-naphthylamine. [PDF]

Discov Oncol
Qin R, Li C, Liu C, Shen C, Hu D, Zhao X, Ge H, Zhu J, Wang Y.   +8 more
europepmc   +1 more source

Electron transfer engineering of artificially designed cell factory for complete biosynthesis of steroids. [PDF]

Nat Commun
Chen Q, Wei W, Chao Z, Qi R, He J, Chen H, Wang K, Wang X, Rao Y, Zhou J.   +9 more
europepmc   +1 more source

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults. [PDF]

Front Pediatr
Hoskins BJ, Pramparo T, Gough E, Ponte A, Dutta R, Karnsakul W.   +5 more
europepmc   +1 more source

The Dual Role of Ferroptosis in Cancer: Molecular Mechanisms, Microenvironment Crosstalk, and Precision Therapeutics. [PDF]

Cancers (Basel)
Zhu Y, Chen M, Chen J, Wang J, Zhou R, Cui Y, Li G.   +6 more
europepmc   +1 more source

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes. [PDF]

Orphanet J Rare Dis
Ferren E, Hillman PR, Kritzer A, Ray J, Serrano A, Northrup H, Roberts P, Dutta R, Pramparo T, Vig P, Steiner RD.   +10 more
europepmc   +1 more source

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity

Biochemical and Biophysical Research Communications
The DHCR7 enzyme converts 7-DHC into cholesterol. Mutations in DHCR7 can block cholesterol production, leading to abnormal accumulation of 7-DHC and causing Smith-Lemli-Opitz syndrome (SLOS). SLOS is an autosomal recessive disorder characterized by multiple malformations, including microcephaly, intellectual disability, behavior reminiscent of autism ...
Akihiko Yoshimura, Toshikatsu Hanada, Ryohei Umeda   +2 more
exaly   +5 more sources

Some of the next articles are maybe not open access.

Related searches:

DHCR7 as a novel regulator of ferroptosis in hepatocytes

2022
Abstract Recent evidence indicates that ferroptosis is implicated in the pathophysiology of various liver diseases; however, the mechanism of ferroptosis regulation in the liver is poorly understood. Here, using the whole-genome screening approach, we identified 7-dehydrocholesterol reductase (DHCR7), the terminal ...
Naoya Yamada, Tadayoshi Karasawa, Takanori Komada, Takayoshi Matsumura, Chintogtokh Baatarjav, Junya Ito, Kiyotaka Nakagawa, Daisuke Yamamuro, Shun Ishibashi, Kouichi Miura, Naohiro Sata, Masafumi Takahashi   +11 more
openaire   +1 more source

DHCR7: A vital enzyme switch between cholesterol and vitamin D production

Progress in Lipid Research, 2016
The conversion of 7-dehydrocholesterol to cholesterol, the final step of cholesterol synthesis in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol reductase (DHCR7). Homozygous or compound heterozygous mutations in DHCR7 lead to the developmental disease Smith-Lemli-Opitz syndrome, which can also result in fetal mortality,
Anika Prabhu, Andrew Brown, Laura J Sharpe   +2 more
exaly   +3 more sources

Mutations in the human DHCR7 gene

Human Mutation, 2001
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder characterized by variable congenital malformations, facial dysmorphism, and mental retardation. Mutations in the DHCR7 gene have been identified in SLOS patients. This gene encodes for the enzyme Delta7-sterol reductase which catalyses the last step of cholesterol ...
M, Witsch-Baumgartner, J, Löffler, G, Utermann   +2 more
openaire   +2 more sources

Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression

Developmental Brain Research, 2005
In humans, genetic disorders affecting post-squalene cholesterol biosynthesis result in a variety of dysmorphology syndromes. One key feature of all of these is the presence of mental retardation and another is the lack of a robust genotype-phenotype correlation.
Hongwei, Yu, Andy, Wessels, G Stephen, Tint, Shailendra B, Patel   +3 more
openaire   +2 more sources