Publications by authors named "G Nishimura"
Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier.
View Article and Find Full Text PDFWe report a case of a fetus with short-rib thoracic dysplasia (SRTD) with polydactyly that also presented with atypical severe acro-mesomelic ossification defects. Genetic analysis using massively parallel sequencing of a skeletal dysplasia panel revealed compound heterozygous variants in DYNC2H1. This clinical report highlights the challenges associated with diagnosing the diverse phenotypes in the SRTD group and emphasizes the importance of genetic surveillance with a targeted gene panel for accurate diagnosis.
View Article and Find Full Text PDFArticle Synopsis
- - The growth and development of bones are controlled by bone morphogenetic proteins (BMPs), which are linked to various skeletal disorders, but BMP5 has not previously been connected to human skeletal malformations.
- - A patient with two loss-of-function variants of BMP5 was identified, presenting a syndromic phenotype that includes skeletal dysostosis, physical abnormalities, and heart issues.
- - The study suggests a novel association between BMP5 variants and various developmental anomalies affecting the ears, heart, and skeleton, enhancing our understanding of BMP5's role in human development.
Significance: Although the depth detection limit of fluorescence objects in tissue has been studied, reports with a model including noise statistics for designing the optimum measurement configuration are missing. We demonstrate a variance analysis of the depth detection limit toward clinical applications such as noninvasively assessing the risk of aspiration.
Aim: It is essential to analyze how the depth detection limit of the fluorescence object in a strong scattering medium depends on the measurement configuration to optimize the configuration.
Article Synopsis
- - Camurati-Engelmann disease (CED) is a genetic bone disorder categorized into two types based on TGFB1 mutations, where CED2 lacks these mutations.
- - In this study, researchers discovered two new mutations in the TGFB2 gene in CED2 patients, which affect a specific region of the gene, potentially leading to increased TGF-β2 activity and bone formation.
- - The findings indicate that CED2 may result from heightened TGF-β2 signaling due to a loss of regulatory functions of the latency-associated peptide (LAP), highlighting distinct roles of TGFB1 and TGFB2 in bone development.