Results 181 to 190 of about 234,539 (335)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Advances in miRNA research: Unraveling the complexities of gene regulation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley   +1 more source

Vitamin D‐induced mechanisms in cancer prevention and therapy: Recent advances and future opportunities

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Vitamin D, traditionally known to promote calcium and bone health, is being explored for its role in cancer prevention and treatment through its influence on cell proliferation, differentiation, apoptosis, and immune response. The vitamin D receptor (VDR) regulates gene expression and interacts with key signaling pathways such as Wnt/β‐catenin, MAPK ...
D. Prasanth   +10 more
wiley   +1 more source

Potent Fluorescent Probe for Target-Engagement Studies of Allosteric Pyruvate Kinase Modulators. [PDF]

open access: yesAngew Chem Int Ed Engl
Nilsson O   +9 more
europepmc   +1 more source

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