Results 71 to 80 of about 61,638 (306)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart   +6 more
wiley   +1 more source

Complex coordinated extracellular metabolism: Acid phosphatases activate diluted human leukocyte proteins to generate energy flow as NADPH from purine nucleotide ribose

open access: yesRedox Biology, 2016
Complex metabolism is thought to occur exclusively in the crowded intracellular environment. Here we report that diluted enzymes from lysed human leukocytes produce extracellular energy.
John B. Hibbs Jr.   +2 more
doaj   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey   +6 more
wiley   +1 more source

Cadmium exposure dysregulates purine metabolism and homeostasis across the gut-liver axis in a mouse model

open access: yesEcotoxicology and Environmental Safety, 2023
Cadmium (Cd) exposure has been associated with the development of enterohepatic circulation disorders and hyperuricemia, but the possible contribution of chronic low-dose Cd exposure to disease progression is still need to be explored.
Hui Zhang   +11 more
doaj  

The cumulative analgesic effect of repeated electroacupuncture is modulated by Adora3 in the SCDH of mice with neuropathic pain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Neuropathic pain management via repeated electroacupuncture. Abstract Background Existing remedial approaches for relieving neuropathic pain (NPP) are challenging and open the way for alternative therapeutic measures such as electroacupuncture (EA). The mechanism underlying the antinociceptive effects of repeated EA sessions, particularly concerning ...
Faisal Ayub Kiani   +6 more
wiley   +1 more source

Histochemical indications for a chemically complex signal produced by the cervical gill slit gland of the pygmy sperm whale (Kogia breviceps)

open access: yesThe Anatomical Record, EarlyView.
Abstract The pygmy sperm whale (Kogia breviceps) possesses an exocrine gland associated with its false gill slit pigmentation pattern. The cervical gill slit gland is a compound tubuloalveolar gland that produces a holocrine secretion and displays maturational changes in size and secretory histology. While the morphology of the cervical gill slit gland
Tiffany F. Keenan   +13 more
wiley   +1 more source

CAQ Corner: Basic concepts of transplant immunology

open access: yes, 2022
Liver Transplantation, EarlyView.
Amanda Cheung, Josh Levitsky
wiley   +1 more source

Multi-omics analyses reveal interactions between the skin microbiota and skin metabolites in atopic dermatitis

open access: yesFrontiers in Microbiology
IntroductionAtopic dermatitis (AD) is one of the most common inflammatory skin diseases. Skin microecological imbalance is an important factor in the pathogenesis of AD, but the underlying mechanism of its interaction with humans remains unclear ...
Kaikai Huang   +14 more
doaj   +1 more source

Metabolic Profiling of Non-volatile Compounds during Xinyang Maojian Tea Processing Using Untargeted Metabolomics [PDF]

open access: yesShipin Kexue
In order to understand the dynamic changes of non-volatile metabolites in Xinyang Maojian tea during processing, Xinyang Maojian tea samples from Xinyang tea population (Camellia sinensis cv.
KONG Yashuai, CHEN Lingzhi, CHENG En, ZHU Yao, WANG Jingjing, WANG Xiao, WANG Zihao, CHEN Yi, YIN Peng, GUO Guiyi
doaj   +1 more source

Characterization of the pattern of development of key compounds contributing to aroma quality of chicken meat and their metabolic markers

open access: yesAnimal Research and One Health, EarlyView.
The graphical abstract shows the principal results of this study. Eight major aroma‐contributing compounds (nonanal, octanal, dimethyl tetrasulfide, hexanal, 1‐octen‐3‐ol, (E)‐2‐nonenal, heptanal, and (E,E)‐2,4‐decadienal) were identified by electronic nose and GC‐O‐MS analysis, and their content increased with age.
Yanke Wang   +6 more
wiley   +1 more source

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