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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability.
Int Med Case Rep J
January 2025
Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.
Introduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. The Epsilon-Trimethyllysine Hydroxylase () gene encodes the enzyme N-Trimethyllysine hydroxylase (TMLH) which catalyses the first step in the biosynthesis of carnitine. Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872).
View Article and Find Full Text PDFTranscriptome analysis of regenerated dermis stimulated by mechanical stretch.
Gene
January 2025
Department of Plastic Surgery, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi Province 710032, China. Electronic address:
Background: Mechanical stretch is utilized in the process of tissue expansion to promote skin regeneration, which is crucial for wound healing and organ reconstruction purposes. Enlarged dermal area is one of the significant histological characteristics of the expanded skin. However, the underlying biological processes and molecular pathways associated with dermal regeneration triggered by mechanical stretch are still not well understood.
View Article and Find Full Text PDFWhole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.
Mol Biol Rep
January 2025
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Background: Male infertility (MI) is a polygenic condition mainly induced by spermatogenic failure/arrest or systemic disease with a large clinical spectrum. Lately, genetic sequencing allowed the identification of several variants implicated in both aforesaid situations.
Methods And Results: In this case study, we performed whole exome sequencing (WES) on the genomic DNA of a 37-year-old Moroccan man with Non-Obstructive Azoospermia.
Comparative metagenomics of tropical reef fishes show conserved core gut functions across hosts and diets with diet-related functional gene enrichments.
Appl Environ Microbiol
January 2025
School of Marine Science and Policy, University of Delaware, Lewes, Delaware, USA.
Unlabelled: Fish gut microbial communities are important for the breakdown and energy harvesting of the host diet. Microbes within the fish gut are selected by environmental and evolutionary factors. To understand how fish gut microbial communities are shaped by diet, three tropical fish species (hawkfish, ; yellow tang, ; and triggerfish, ) were fed piscivorous (fish meal pellets), herbivorous (seaweed), and invertivorous (shrimp) diets, respectively.
View Article and Find Full Text PDFAbundance of long-chain polyunsaturated fatty acids in European eel (Anguilla anguilla L.) is determined by diet rather than biosynthesis.
J Fish Biol
January 2025
Marine Biology, Ghent University, Ghent, Belgium.
The European eel (Anguilla anguilla L.) exhibits a remarkable phenotypic plasticity by occupying both marine and freshwater habitats and transitional areas in between. Because these habitats are characterized by different food sources with different fatty acid compositions, it remains unclear how eels from different habitats obtain essential long-chain polyunsaturated fatty acids (LC-PUFAs) to integrate in their lipids.
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