MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.

Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.

Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.

Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.

Critical role for Transglutaminase 2 in scleroderma skin fibrosis and in the development of dermal sclerosis in a mouse model of scleroderma.

Objective: Scleroderma is a life-threatening autoimmune disease characterized by inflammation, tissue remodelling, and fibrosis. This study aimed to investigate the expression and function of transglutaminase 2 (TGM2) in scleroderma skin and experimentally-induced dermal fibrosis to determine its potential role and therapeutic implications.

Methods: We performed immunohistochemistry on skin sections to assess TGM2 expression and localisation, and protein biochemistry of both SSc-derived and healthy control dermal fibroblasts to assess TGM2 expression, function and ECM deposition in the presence of a TGM2 and TGFβ neutralizing antibodies and a small molecule inhibitor of the TGFβRI kinase.

Results of a Global Survey on the State of Interventional Radiology 2024.

Purpose: To understand the state of IR practice and education worldwide and identify factors impacting access to IR services.

Methods And Materials: A Society of Interventional Radiology (SIR) approved anonymous survey was created to gather demographics, regional IR practice and education characteristics, and challenges impacting local IR development. The survey was distributed to members of global IR societies and shared on social media from 6/2022 to 9/2023.