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Background And Purpose: The antiepileptic drug ethosuximide (ETX) suppresses epileptiform activity in a mouse model of GNB1 syndrome, caused by mutations in Gβ protein, likely through the inhibition of G-protein gated K (GIRK) channels. Here, we investigated the mechanism of ETX inhibition (block) of different GIRKs.

Experimental Approach: We studied ETX inhibition of GIRK channels expressed in Xenopus oocytes with or without their physiological activator, the G protein subunit dimer Gβγ.

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Lateral band snapping syndrome can be a debilitating condition involving the proximal interphalangeal (PIP) joint of the fingers. Although rare, it is thought to occur due to disruption of the finger extensor mechanism allowing inappropriate subluxation of the lateral bands over the PIP joint, leading to mechanical and painful symptoms.Here, we describe a woman in her early 40s with a painful, snapping PIP joint secondary to a work-related injury.

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The impact of breast implants on the immune system has been debated since their introduction in the 1960s, linking silicone to systemic autoimmune diseases. Recent studies have shown that silicone gel can migrate from the implant capsule, triggering immune responses by proliferating immune cells and releasing cytokines, affecting T-cell function. Silicone particles can induce the release of IL-1β and activate the NALP3 inflammasome and B cells, causing an imbalance in regulatory T cells, responder T cells, and Th17 cells.

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A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

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November 2024

Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética/Cátedra de Genética, Buenos Aires, Argentina.

DICER1 syndrome is an autosomal-dominant disorder that results in malignant or benign tumors. A number of distinct pathogenic germline and somatic variants have been identified as causing multinodular goiter (MNG). The purpose of the present study was to identify and characterize the genetic cause underlying the familial form of MNG through a whole-exome sequencing (WES) analysis in an Argentine family with three affected siblings.

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Hyaloperonospora arabidopsidis (Hpa) is an oomycete pathogen that causes downy mildew disease on Arabidopsis. This obligate biotroph manipulates the homeostasis of its host plant by secreting numerous effector proteins, among which are the RxLR effectors. Identifying the host targets of effectors and understanding how their manipulation facilitates colonization of plants are key to improve plant resistance to pathogens.

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