Results 51 to 60 of about 357 (86)

Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis. [PDF]

Sci Rep
Sixto-López Y, Mendoza-Figueroa HL, Landeros-Rivera B, Camacho-Molina A, Correa-Basurto J.   +4 more
europepmc   +1 more source

Leptin and IGF-1 in Infancy Are Associated With Variants in DHCR7 and CYP2R1 That Relate With Type 1 Diabetes and 25OHD.

J Clin Endocrinol Metab, 2023
Eleftheriou A, Ong KK, Hughes IA, Petry CJ.   +3 more
europepmc   +1 more source

Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives. [PDF]

Adv Ther
Steiner RD, DeBarber A, Larson A, Blanchard B, Laurie S, Odedara N, Rosengrant H, Dutta R.   +7 more
europepmc   +1 more source

A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. [PDF]

Intern Med, 2020
Takasone K, Morizumi T, Nakamura K, Mochizuki Y, Yoshinaga T, Koyama S, Sekijima Y.   +6 more
europepmc   +1 more source

Differential expression and modulation of EBI2 and 7α,25-OHC synthesizing (CH25H, CYP7B1) and degrading (HSD3B7) enzymes in mouse and human brain vascular cells. [PDF]

PLoS One
Caratis F, Karaszewski B, Klejbor I, Furihata T, Rutkowska A.   +4 more
europepmc   +1 more source

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy. [PDF]

Orphanet J Rare Dis
Pasternack G, Courtney J, Kalsi G.
europepmc   +1 more source

Impact of gene polymorphisms involved in the vitamin D metabolic pathway on the susceptibility to and severity of autism spectrum disorder. [PDF]

Sci Rep
Saechua C, Sarachana T, Chonchaiya W, Trairatvorakul P, Yuwattana W, Poolcharoen C, Sangritdech M, Saeliw T, van Erp ML, Sangsuthum S, Akarapredee N, Tipnoppanon S, Sukprasong R, Satapornpong P, Atasilp C, Sukasem C, Vanwong N.   +16 more
europepmc   +1 more source

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK.   +5 more
europepmc   +1 more source

Biological Effects of CYP11A1-Derived Vitamin D and Lumisterol Metabolites in the Skin. [PDF]

J Invest Dermatol
Slominski AT, Kim TK, Janjetovic Z, Slominski RM, Li W, Jetten AM, Indra AK, Mason RS, Tuckey RC.   +8 more
europepmc   +1 more source

Effects of therapeutically approved individual bile acids on the development of metabolic dysfunction-associated steatohepatitis a low bile acid mouse model. [PDF]

Toxicol Sci
Taylor R, Basaly V, Kong B, Yang I, Brinker AM, Capece G, Bhattacharya A, Henry ZR, Otersen K, Yang Z, Meadows V, Mera S, Joseph LB, Zhou P, Aleksunes LM, Roepke T, Buckley B, Guo GL.   +17 more
europepmc   +1 more source