Results 121 to 130 of about 5,510 (174)

A Novel Compound Heterozygous <i>CYP27A1</i> Variant in Cerebrotendinous Xanthomatosis: A Case Report from a Non-Consanguineous Family. [PDF]

Mol Syndromol
Cesur Baltacı HN, Sağlam Ada B, Yürür Kutlay N, Tükün A, Teber ST, Coşkun T.   +5 more
europepmc   +1 more source

Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression. [PDF]

PLoS One
Zhao X, Zhou J, Chyu KY, Erbay E, Cercek B, Shah PK, Dimayuga PC.   +6 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

Tissue specific role of ABCA1 in lung cholesterol homeostasis under high-cholesterol diet. [PDF]

Front Nutr
Ma J, Gong Z, Lu H, Yang H, Wang S, Zhu Q, Liu H, Li Y, Zhang Y, Lian X.   +9 more
europepmc   +1 more source

Bariatric and metabolic surgery improves glycolipid metabolism via bile acid regulation and intestinal barrier repair in T2DM patients. [PDF]

J Med Biochem
Zhang J, Apaer S, Zhang S, Liang G, Li T, Cao X.   +5 more
europepmc   +1 more source

Multi-omics analysis and experiments validate the tumor-suppressive role of mitochondrial lipid metabolism gene ACSM5 in lung adenocarcinoma and its impact on the immune microenvironment. [PDF]

Hum Genomics
Wu S, Tang B, Wei W, Li Y.
europepmc   +1 more source

Physiological Functions of Side-Chain-Retaining Sterols in the Brain and Their Roles in Neurodegenerative Diseases. [PDF]

Metabolites
Kiriyama Y, Nakatsuma A, Tokumaru H, Sadamoto H, Nochi H.   +4 more
europepmc   +1 more source

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect. [PDF]

Int J Mol Sci
Pachajoa H, Bonilla S, Nieva-Posso DA.
europepmc   +1 more source

Long-term Western diet feeding impairs hepatic vitamin D metabolism and promotes bone loss in mice. [PDF]

EXCLI J
Zhou P, Hammour MM, Aspera-Werz RH, Ehnert S, Myllys M, Hobloss Z, Hassan R, Gonzalez D, Hendawi R, Edlund K, Hans S, Laschke MW, Ghallab A, Hengstler JG, Nüssler AK, Maisenbacher TC.   +15 more
europepmc   +1 more source