Results 101 to 110 of about 9,202 (195)

A new metabolic path in type 3 rickets

open access: yesThe FEBS Journal, Volume 293, Issue 3, Page 656-659, February 2026.
Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Toshiya Senda, Yoshihisa Hirota
wiley   +1 more source

N,N-Dimethyl-3β-hydroxycholenamide Reduces Retinal Cholesterol via Partial Inhibition of Retinal Cholesterol Biosynthesis Rather Than its Liver X Receptor Transcriptional Activity

open access: yesFrontiers in Pharmacology, 2018
N,N-dimethyl-3β-hydroxycholenamide (DMHCA) is an experimental pharmaceutical and a steroidal liver X receptor (LXR) agonist, which does not induce undesired hepatic lipogenesis.
Nicole El-Darzi   +5 more
doaj   +1 more source

EPMA position paper in cancer:current overview and future perspectives [PDF]

open access: yes, 2015
At present, a radical shift in cancer treatment is occurring in terms of predictive, preventive, and personalized medicine (PPPM). Individual patients will participate in more aspects of their healthcare.
Bubnov, Rostylav   +7 more
core   +5 more sources

Bile Acids as Key Mediators of the Gut Microbiota–Immune Axis: Potential Biomarker and Therapeutic Perspectives

open access: yesBioFactors, Volume 52, Issue 1, January/February 2026.
Primary bile acids synthesized in the liver are transformed by gut microbes into secondary bile acids that engage receptors such as FXR and TGR5, thereby modulating immune function and metabolic homeostasis. Dysregulation of these signaling pathways contributes to MASH, NAFLD, IBD, and neurodegenerative disorders, underscoring their relevance as ...
Simone Baldi   +5 more
wiley   +1 more source

Modules identification in gene positive networks of hepatocellular carcinoma using pearson agglomerative method and Pearson cohesion coupling modularity [PDF]

open access: yes, 2012
In this study, a gene positive network is proposed based on a weighted undirected graph, where the weight represents the positive correlation of the genes.
Gao, Zhiwei, Hu, Jinyu
core   +3 more sources

Bioenergetics and lipid metabolism in Alzheimer's disease: From cell biology to systemic health

open access: yesJournal of Internal Medicine, Volume 299, Issue 1, Page 20-43, January 2026.
Abstract Alzheimer's disease (AD) is a complex neurodegenerative disorder characterized by progressive cognitive decline. Although amyloid‐β and tau pathologies remain central to our understanding of AD, growing evidence suggests that disrupted lipid metabolism and impaired bioenergetics are closely linked to these hallmark features. Genetic, lipidomic
Silvia Maioli   +12 more
wiley   +1 more source

A Network of SLC and ABC Transporter and DME Genes Involved in Remote Sensing and Signaling in the Gut-Liver-Kidney Axis. [PDF]

open access: yes, 2019
Genes central to drug absorption, distribution, metabolism and elimination (ADME) also regulate numerous endogenous molecules. The Remote Sensing and Signaling Hypothesis argues that an ADME gene-centered network-including SLC and ABC "drug" transporters,
Bush, Kevin T   +2 more
core   +1 more source

Deficiency of Capicua disrupts bile acid homeostasis [PDF]

open access: yes, 2018
Capicua (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; however, the in vivo physiological functions of CIC remain largely unknown.
Choi, N   +12 more
core   +2 more sources

Pigments, Chromatophore Structure, and Gene Expression Underlying Colour Polytypy of a Panamanian Poison Frog

open access: yesMolecular Ecology, Volume 35, Issue 1, January 2026.
ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki   +7 more
wiley   +1 more source

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

open access: yesStem Cell Research, 2016
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1.
Philip Höflinger   +5 more
doaj   +1 more source

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