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Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.
Can J Cardiol
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Be'er Sheva, Israel; Genetics Institute, Soroka University Medical Center, Be'er Sheva, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel. Electronic address:
Background: Mitral valve prolapse (MVP) is a common cardiac valvular anomaly that can be caused by mutations in genes of various biological pathways. Individuals of three generations of a kindred presented with apparently dominant heredity of isolated MVP.
Methods: Clinical evaluation and echocardiography for all complying family members (n=13).
Cognitive Impairment in Psychotic Disorders Is Associated with Brain Reductive Stress and Impaired Energy Metabolism as Measured by 31P Magnetic Resonance Spectroscopy.
Schizophr Bull
January 2025
Psychotic Disorders Division, McLean Hospital, Belmont, MA, United States.
Background And Hypothesis: Convergent evidence shows the presence of brain metabolic abnormalities in psychotic disorders. This study examined brain reductive stress and energy metabolism in people with psychotic disorders with impaired or average range cognition. We hypothesized that global cognitive impairment would be associated with greater brain metabolic dysregulation.
View Article and Find Full Text PDFRole of polyethylene glycol to alleviate lead stress in .
PeerJ
January 2025
Faculty of Agricultural Sciences, University of the Punjab, Lahore, Punjab, Pakistan.
The continuous contamination of heavy metals (HMs) in our ecosystem due to industrialization, urbanization and other anthropogenic activities has become a serious environmental constraint to successful crop production. Lead (Pb) toxicity causes ionic, oxidative and osmotic injuries which induce various morphological, physiological, metabolic and molecular abnormalities in plants. Polyethylene glycol (PEG) is widely used to elucidate drought stress induction and alleviation mechanisms in treated plants.
View Article and Find Full Text PDFBone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.
Commun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFInflammatory Effects and Regulatory Mechanisms of Chitinase-3-like-1 in Multiple Human Body Systems: A Comprehensive Review.
Int J Mol Sci
December 2024
School of Life Sciences, Yunnan University, Kunming 650500, China.
Chitinase-3-like-1 (Chi3l1), also known as YKL-40 or BRP-39, is a highly conserved mammalian chitinase with a chitin-binding ability but no chitinase enzymatic activity. Chi3l1 is secreted by various cell types and induced by several inflammatory cytokines. It can mediate a series of cell biological processes, such as proliferation, apoptosis, migration, differentiation, and polarization.
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