Results 101 to 110 of about 10,369 (237)

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report

Journal of Medical Case Reports
Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen in classical CTX. Here we report a spinal
Je Hong Min, Yoon Seob Kim, Myeong Jin Son, In Soo Joo   +3 more
semanticscholar   +1 more source

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

Molecular 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, Giselle Tamayo‐Castillo, Víctor Vásquez‐Cháves, Abel Mora‐Machado, William J. Zamora Ramirez, Roberto Ibáñez, Heike Pröhl, Ariel Rodríguez   +7 more
wiley   +1 more source

Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease-specific survival [PDF]

, 2016
Single nucleotide polymorphisms (SNPs) in the vitamin D pathway genes have been implicated in cutaneous melanoma (CM) risk, but their role in CM disease-specific survival (DSS) remains obscure.
Amos, Christopher I., Feng, Shenying, Han, Jiali, Lee, Jeffrey E., Liu, Hongliang, Wei, Qingyi, Wu, Wenting, Yi, Xiaohua, Yin, Jieyun   +8 more
core   +1 more source

The Major Role of Type 2 Inflammation in Asthma: From the Perspective of Immunological Mechanism

BioMed Research International, Volume 2026, Issue 1, 2026.
Asthma is a heterogeneous disease that affects individuals of diverse age groups globally and exhibits variable responses to different treatments. Type 2 inflammation contributes to the pathogenesis of asthma through the production of cytokines IL‐4, IL‐5, and IL‐13, thereby inducing characteristic features of asthma such as elevated eosinophil levels ...
Lanying Cheng, Lihong Sun, Baisakhi Banerjee   +2 more
wiley   +1 more source

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

Genetics and Molecular Biology, 2015
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol ...
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos   +11 more
doaj   +1 more source

Secondary Bile Acids Modified by Odoribacter Splanchnicus Alleviate Colitis by Suppressing Neutrophil Extracellular Trap Formation

Advanced Science, Volume 12, Issue 46, December 11, 2025.
In ulcerative colitis, the loss of Odoribacter splanchnicus disrupts a microbiota‐metabolite‐neutrophil axis. Restoring this bacterium boosts lithocholic acid, which suppress neutrophil extracellular trap formation and eases colonic inflammation.
Jing Xu, Jianhong Li, Xue Guo, Chen Huang, Yao Peng, Haoming Xu, Yingfei Li, Jingkui Xu, Jinxia Hu, Yitong Liao, Yuqiang Nie, Youlian Zhou   +11 more
wiley   +1 more source

Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism

Journal of Pharmacy and Bioallied Sciences, 2011
It is well known that drug disposition and response are greatly determined by the activities of drug metabolizing enzymes, which are polymorphic.
Vera Dias, V Ribeiro
doaj   +1 more source

24s-Hydroxycholesterol. Studies on regulatory mechanisms behind its formation in the brain and its potential use as a marker for neurodegeneration [PDF]

, 2010
Cholesterol 24-hydroxylase (CYP46A1) belongs to the cytochrome P450 super family and is responsible for conversion of cholesterol to the oxysterol 24S- hydroxycholesterol (24S-OHC).
Shafaati, Marjan
core  

Population Pharmacokinetic Modeling of Glycochenodeoxycholic Acid 3‐O‐Sulfate (GCDCA‐S) as Endogenous Biomarker of OATP1B3 and OAT3 Transporters

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1532-1542, December 2025.
Endogenous biomarkers for drug transporters are an emerging tool for the assessment of transporter‐mediated drug–drug interactions (DDI). Glycochenodeoxycholic acid 3‐O‐sulfate (GCDCA‐S) has been proposed as a Tier 2 biomarker of hepatic OATP1B3 and renal OAT3 transporters by the International Transporter Consortium.
Yuki Ujihira, Viktor Georgiev, Kayode Ogungbenro, Aleksandra Galetin   +3 more
wiley   +1 more source

Deficiency of Capicua disrupts bile acid homeostasis [PDF]

, 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, Fryer, JD, Hwang, D, Jung, HY, Kang, H, Kim, E, KIM, KYONG TAI, Kim, S, Lee, J, LEE, YOONTAE, Park, S, Yoe, J, Zoghbi, HY   +12 more
core   +2 more sources