A genetic analysis of biologic processes has provided substantial advances in developmental biology. Whereas the genetic analysis of Drosophila is a potent system, recently developed tools have enabled a genetic analysis of the development of vertebrates. For these studies, numerous mouse mutants are available and many more will be introduced in the near future. Mutations involving the skeleton are easy to detect. This article reports the phenotype and molecular analysis of two mutant mouse strains with skeletal abnormalities, undulated (un) and Danforth's short tail (Sd). The role of the corresponding genes in skeletal development of these two mutants and the basis for their genetic interaction are discussed.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The Relationship Between Body Mass Index and Peripheral Artery Disease: Insights from the National Health and Nutrition Examination Survey and Mendelian Randomization Analysis.
J Surg Res
January 2025
School of Medicine, Tongji University, Shanghai, China; Department of Health Statistics, Navy Medical University, Shanghai, China. Electronic address:
Introduction: Body mass index (BMI) has been implicated in various cardiovascular conditions, but its association with peripheral artery disease (PAD) in both real-world and genetic studies have been contentious and debated.
Methods: This study enrolled 6707 individuals from the National Health and Nutrition Examination Survey database to investigate the association between BMI and the risk of PAD. The weighted logistic regression, restricted cubic spline, and subgroup analysis were performed using real-world data.
Rare dual MYH9-ROS1 fusion variants in a patient with lung adenocarcinoma: A case report.
Medicine (Baltimore)
January 2025
Department of Respiratory and Critical Care Medicine, Zhongshan City People's Hospital, Zhongshan, Guangdong Province, China.
Rationale: ROS proto-oncogene 1 (ROS1) fusion is a rare but important driver mutation in non-small cell lung cancer, which usually shows significant sensitivity to small molecule tyrosine kinase inhibitors. With the widespread application of next-generation sequencing (NGS), more fusions and co-mutations of ROS1 have been discovered. Non-muscle myosin heavy chain 9 (MYH9) is a rare fusion partner of ROS1 gene as reported.
View Article and Find Full Text PDFThree cases of hemoglobin M disease in a family lineage: Case report and literature review.
Medicine (Baltimore)
January 2025
Department of Pediatric Hematology, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.
View Article and Find Full Text PDFAssociations between 25-hydroxyvitamin D/calcium/alkaline phosphatase levels and the risk of developing kidney stones: Results from NHANES (2013-2018)-based and Mendelian randomization studies.
Medicine (Baltimore)
January 2025
Department of Urology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
This study explores the relationship between 25-hydroxyvitamin D/calcium/alkaline phosphatase (ALP) levels and kidney stone development via cross-sectional and Mendelian randomization (MR) analyses. We used data from the National Health and Nutrition Examination Survey (NHANES) 2013 to 2018 to explore the associations of 25(OH)D metabolite, calcium, and ALP levels with kidney stone development, LDSC analysis to determine the associations between their genetically predicted levels and kidney stone development, and MR analysis to determine the causality of those relationship via genome-wide association studies (GWASs). The cross-sectional study revealed a relationship between ALP levels and kidney stone development (Model 1: OR = 1.
View Article and Find Full Text PDFCirculating inflammatory cytokines and colorectal cancer: New insights from Mendelian randomization.
Medicine (Baltimore)
January 2025
Renmin Hospital of Wuhan University, Wuhan, Hubei Province, People's Republic of China.
Colorectal cancer (CRC) is one of the most common cancers worldwide and inflammation is believed to play an important role in CRC. In this study, we comprehensively analyzed the causal association between 91 circulating inflammatory cytokines and the risk of CRC using Mendelian randomization (MR). Based on genome-wide association study summary statistics, we examined the causal effects of 91 circulating inflammatory cytokines on CRC.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!