Objective: To investigate further the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL).
Methods: Single strand conformation polymorphism (SSCP) combined with polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to detect the mutation for the coding exons of SEDL gene as well as their exon/intron boundaries in 5 unrelated Chinese boys clinically diagnosed as having SEDL. DNA sequencing analysis was further used to identify the mutation.
Results: The 13 bp deletion mutation consisting of IVS5-2-1delAG and 322-332del TTTTCAATGAA was identified in one of SEDL patients, but not detected in 30 chromosomes from 30 unrelated normal male individuals.
Conclusion: This is a novel mutation cosegregated with the patient's skeletal disease. The intragenic deletion occurred in the acceptor splice site of the 3' region of intron 5 and the 5' coding region of exon 6, which may result in one or a combination of splicing defects. The results of this study expand the spectrum of SEDL mutations associated with SEDL, and this will help to elucidate further the role of this novel protein in the etiology of this form of osteochondrodysplasia.
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Clin Exp Med
January 2025
Department of Thoracic Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200127, China.
Introduction Recently, immune cells within the tumor microenvironment (TME) have become crucial in regulating cancer progression and treatment responses. The dynamic interactions between tumors and immune cells are emerging as a promising strategy to activate the host's immune system against various cancers. The development and progression of hepatocellular carcinoma (HCC) involve complex biological processes, with the role of the TME and tumor phenotypes still not fully understood.
View Article and Find Full Text PDFDev Growth Differ
January 2025
Division of Biological Sciences, Nara Institute of Science and Technology, Ikoma, Japan.
The neural tube, the embryonic precursor to the vertebrate central nervous system, comprises distinct progenitor and neuronal domains, each with specific proliferation programs. In this study, we identified TMEM196, a novel transmembrane protein that plays a crucial role in regulating cell proliferation in the floor plate in chick embryos. TMEM196 is expressed in the floor plate, and its overexpression leads to reduced cell proliferation without affecting the pattern formation of the neural tube.
View Article and Find Full Text PDFCancer Cell Int
January 2025
Department of Infectious Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, No. 197, Ruijin 2nd Road, Shanghai, 20025, China.
Background: Methyltransferase-like (METTL) family protein plays a crucial role in the progression of malignancies. However, the function of METTL17 across pan-cancers, especially in hepatocellular carcinoma (HCC) is still poorly understood.
Methods: All original data were downloaded from TCGA, GTEx, HPA, UCSC databases and various data portals.
Sci Rep
January 2025
Department of Genetics and Biotechnology, Graduate School of Biotechnology, College of Life Sciences, Kyung Hee University, Yongin, Korea.
Melanosome transport is regulated by major proteins, including Rab27a, Melanophilin (Mlph), and Myosin Va (Myo-Va), that form a tripartite complex. Mutation of these proteins causes melanosome aggregation around the nucleus. Among these proteins, Mlph is a linker between Rab27a and Myo-Va.
View Article and Find Full Text PDFProg Mol Biol Transl Sci
January 2025
R and D, Salem Microbes Private Limited, Salem, Tamil Nadu, India. Electronic address:
In the face of advancements in health care and a shift towards healthy lifestyle, diabetes mellitus (DM) still presents as a global health challenge. This chapter explores recent advancements in the areas of genetic and molecular underpinnings of DM, addressing the revolutionary potential of CRISPR-based genome editing technologies. We delve into the multifaceted relationship between genes and molecular pathways contributing to both type1 and type 2 diabetes.
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