A novel truncating variant in PRDM16 causes severe familial cardiomyopathy with variable clinical presentations

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

Truncation in survival analysis refers to the exclusion of individuals or events from the dataset based on specific criteria related to the time of the event. This exclusion can happen in two primary forms: left truncation and right truncation.
Left truncation occurs when individuals who experienced the event of interest before a certain time are not included in the study. This is often due to a "delayed entry" into the study where only those who survive until a certain entry point are...

Self-presentation is a fundamental aspect of social interaction, shaping both how others perceive individuals and how they view themselves. This dynamic process influences behaviors in various social settings, often leading people to adjust their appearance, speech, and demeanor to align with their desired identity. While self-presentation can be deliberate or unconscious, it plays a critical role in interpersonal relationships and self-perception.Forms of Self-PresentationSelf-presentation can...

People can go to great lengths to protect their self-image and present themselves in ways that they want others to see them. Sociologist Erving Goffman presented the idea that a person is like an actor on a stage. Calling his theory dramaturgy, Goffman believed that we use “impression management” to present ourselves to others as we hope to be perceived. Each situation is a new scene, and individuals perform different roles depending on who is present (Goffman, 1959). Think about...

Strategic self-presentation refers to individuals' intentional efforts to influence how others perceive them. This process is employed in various social and professional settings, such as job interviews, dating, politics, and legal contexts, where individuals seek to shape impressions to gain social or material advantages. While people generally present themselves in ways that align with their authentic characteristics, external factors, such as cognitive load, can hinder their ability to...