The Evolution of Tumor Formation in Humans and Mice with Inherited Mutations in the p53 Gene.
Sign Up to like & getrecommendations! Published in 2017 at "Current topics in microbiology and immunology"
DOI: 10.1007/82_2017_5
Abstract: While tumors are very heterogeneous in their origins, mutations in the p53 gene and inactivation of p53 gene functions are the most common feature that predispose to the formation of cancers in humans. Inherited p53… read more here.
Keywords: inherited mutations; p53 gene; mutations p53; p53 ... See more keywords
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.05.008
Abstract: In some patients with GLUT1 deficiency syndrome (GLUT1-DS), the diagnosis can be difficult to reach. We report a child with 2 inherited mutations suggesting an autosomal recessive transmission of SLC2A1 mutations. METHODS The child and… read more here.
Keywords: deficiency syndrome; inherited mutations; glucose uptake; glut1 deficiency ... See more keywords
Abstract 4648: How inherited mutations affect single cells within the tumor microenvironment in breast tumors stratified by receptor status
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-4648
Abstract: The tumor microenvironment (TME) plays important roles in tumor progression, therapy response and patient survival. In this comprehensive study, we performed a detailed multiomic single cell analysis of breast cancers with inherited mutations in different… read more here.
Keywords: inherited mutations; tumor; breast; receptor status ... See more keywords
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.935905
Abstract: Purpose Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a large proportion, whereas their characteristics remain to be elucidated.… read more here.
Keywords: inherited mutations; inherited col1a1; novo mutations; col1a1 col1a2 ... See more keywords