Results 51 to 60 of about 383,545 (307)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Metabolic Interactions of Side-chain Extended and Unsaturated Vitamin D Analogs with Cytochrome P450 Enzymes: Integrating Theoretical and Experimental Approaches

Biomolecules
The clinical use of 1,25-dihydroxycholecalciferol (1,25D3), the active form of vitamin D3, is limited by its calcemic side effects and rapid metabolic degradation.
Teresa Żołek, Mayur Kadam, Sharmin Nadkarni, Kaori Yasuda, Michał Chodyński, Krzysztof Krajewski, Olga Michalak, Joanna Tobiasz, Marek Kubiszewski, Toshiyuki Sakaki, Andrzej Kutner   +10 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

The phylogenetic relationships of the gobioninae (Teleostei : Cyprinidae) inferred from mitochondrial cytochrome b gene sequences

, 2006
The Gobioninae are a group of morphologically and ecologically diverse Eurasian freshwater cyprinid fishes. The intergeneric relationships of this group are unresolved and the possible monophyly of this subfamily remains to be established.
Liu, HZ, Chinese Acad Sci, Inst Hydrobiol, Wuhan 430072, Peoples R China, Witte, K, Liu, HZ, Yang, JQ, Freyhof, J, He, SP   +5 more
core   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Stretchable and Strain‐Tolerant Gold‐Coated Fibrous Biosensor for Superoxide Anion Monitoring

Advanced Materials Technologies, EarlyView.
A breathable, stretchable gold nanomesh–TPU fiber platform is developed via controlled electroless deposition, enabling uniform through‐thickness conductivity while preserving porosity. Functionalized with superoxide dismutase, the system achieves selective, real‐time electrochemical detection of superoxide with high sensitivity, mechanical durability,
Jafar M. Batayneh, Ahyeon Koh
wiley   +1 more source

Mitochondrial haplotype distribution and phylogenetic relationship of an endangered species Reeve's turtle (Mauremys reevesii) in East Asia

Journal of Asia-Pacific Biodiversity, 2017
This study was examined to reveal haplotype distribution and phylogenetic relationship using mitochondrial DNA CYTB gene sequences of Reeve’s turtle (Mauremys reevesii) of East Asia. CYTB sequences of Reeve’s turtles were divided into 6 haplotypes (Hap01–
Hong-Shik Oh, Seon-Mi Park, Sang-Hyun Han   +2 more
doaj   +1 more source

Pyrethroid activity-based probes for profiling cytochrome P450 activities associated with insecticide interactions

, 2013
Pyrethroid insecticides are used to control diseases spread by arthropods. We have developed a suite of pyrethroid mimetic activity-based probes (PyABPs) to selectively label and identify P450s associated with pyrethroid metabolism.
O'Neill, Paul, Paine, Mark, Henderson, Colin, Hong, David W., Hong, David, Cravatt, Benjamin F., O'Neill, Paul M., Henderson, Colin J., Mahmoud, Hanafy, Finn, Robert D., Paine, Mark J. I., Finn, Robert, Ismail, Hanafy, Wright, Aaron T., Cravatt, Benjamin, Wright, Aaron, Paine, Mark; id_orcid, Hemingway, Janet, Ismail, Hanafy M.   +18 more
core   +1 more source

GPR124 Alleviates Blood–Brain Barrier Disruption by Enhancing Microvascular Endothelial Function after Traumatic Brain Injury

Advanced Science, EarlyView.
Our study reveals the protective role of GPR124 in maintaining BBB integrity and promoting neurological recovery following TBI. It makes a significant contribution by uncovering a novel molecular interaction between GPR124 and FGFBP1 and linking this to activation of the Wnt/β‐catenin signaling pathway in vascular repair mechanisms.
Chen Wang, Lin Cai, Qiuyuan Gong, Yang Yang, Yuqing Liang, Xinyu Niu, Lai Wei, Ze Liu, Shengju Wu, Yinghui Men, Yaohui Tang, Jun Ding, Hengli Tian, Hao Chen   +13 more
wiley   +1 more source

RFLP Marker Variation of Cytocrome b Gene and Genetic Relationship among Batur, Merino and Local Sheep Breeds

Animal Production: Indonesian Journal of Animal Production, 2011
RFLP analysis of mitochondrial DNA cytochrome b gene was conducted to determine the diversity, status and close genetic relationships in a population of Batur sheep with the Merino and local sheep breeds (Garut, Thin Tail and Fat Tail). The research used
Prayitno Prayitno, T Hartati, R Pratiwi, WT Artama   +3 more
doaj