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Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.
J Clin Endocrinol Metab
December 2024
Research Centre for Medical Genetics, Moscow, Russian Federation.
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.
Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.
Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.
Green tea polyphenols alleviate di (2-ethylhexyl) phthalate-induced testicular injury in mice via lncRNA-miRNA-mRNA axis.
Biol Reprod
December 2024
Department of Nephrology, The First Affiliated Hospital of Jinan University. Guangzhou 510630, China.
Background: Di(2-ethylhexyl) phthalate (DEHP) is a commonly used plasticizer known for its toxic effects on the male reproductive system. Green tea polyphenols (GTPs), recognized for their antioxidant and anti-inflammatory properties, have demonstrated protective effects on various organs, but the mechanisms by which GTPs mitigate DEHP-induced testicular damage remain unclear.
Methods: Healthy male C57BL/6 J mice were divided into five groups: Control, DEHP, DEHP + GTP treatment, GTP, and Oil groups.
Methimazole-induced congenital hypothyroidism affects gonocytes differentiation and arrests meiosis: role of Sertoli cells.
Front Cell Dev Biol
November 2024
Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Mexico City, Mexico.
Background: Congenital hypothyroidism (CH) is a pathology that affects various organs, including the testicles. The mechanisms by which this condition alters fertility is unknown. This study aimed at determining if experimental CH affects gonocyte differentiation and arrests meiosis; and the possible role of the Sertoli cell (SC) in this condition.
View Article and Find Full Text PDFCadmium Exposure Induces Inflammation Through Oxidative Stress-Mediated Activation of the NF-κB Signaling Pathway and Causes Heat Shock Response in a Piglet Testis.
Biol Trace Elem Res
December 2024
Branch of Animal Husbandry and Veterinary of Heilongjiang Academy of Agricultural Sciences, Qiqihar, 161005, People's Republic of China.
Cadmium (Cd), recognized as an environmental toxin, can cause injury to the testis in humans and animals. Oxidative stress (OS) can trigger an inflammatory response by promoting the activation of nuclear factor kappa beta (NF-κB) signaling pathway. Meanwhile, inflammation can lead to the occurrence of heat shock reaction.
View Article and Find Full Text PDFOxidative stress and energy metabolism in male reproductive damage from single and combined high-power microwave exposure at 1.5 and 4.3GHz.
Reprod Toxicol
November 2024
Beijing Institute of Radiation Medicine, Beijing 100850, PR China. Electronic address:
The effect of multi-frequency electromagnetic environments on male reproduction has attracted the medical community's interest. Studies have investigated the effects and mechanisms of single-frequency microwave exposure on male reproduction, but comparative research on high-power microwave (HPM) composite and single exposure remains scarce. This study aimed to examine the effects and mechanisms of combined 1.
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