Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.

Am J Med Genet A

Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana.

Published: February 2017

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38056DOI Listing

Publication Analysis

Top Keywords

evidence variants
4
variants ppp1cb
4
ppp1cb rasopathy
4
rasopathy noonan
4
noonan syndrome
4
syndrome loose
4
loose anagen
4
anagen hair
4
evidence
1
ppp1cb
1

Similar Publications

Background: Glucagon-like peptide-1 receptor agonists (GLP1RAs) are widely used in manageing type 2 diabetes mellitus and weight control. Their potential in treating ageing-related diseases has been gaining attention in recent years. However, the long-term effects of GLP1RAs on these diseases have yet to be fully revealed.

View Article and Find Full Text PDF

Objectives: Ageism occurs across the world, with negative consequences for individuals and societies. In 2016, WHO received a mandate from its Member States to lead the global campaign to combat ageism. To monitor, evaluate, and build evidence for reducing ageism, the availability of a brief, reliable and valid set of indicators of ageism experiences that can be used globally is essential.

View Article and Find Full Text PDF

Cancer immunotherapy, particularly immune checkpoint inhibitors, has positively impacted oncological treatments. Despite its effectiveness, immunotherapy is associated with immune-related adverse events (irAEs) that can affect any organ, including the liver. Hepatotoxicity primarily manifests as immune-related hepatitis and, less frequently, cholangitis.

View Article and Find Full Text PDF

IL-23R (interleukin-23 receptor), found on the surface of several immune cells, plays a key role in the immune system. Indeed, this process is not limited to the inflammatory response but also plays a role in the adaptive immune response. The binding between IL-23R and its specific ligand, the interleukin 23, initiates a number of specific signals by modulating both properties and behavior of immune cells.

View Article and Find Full Text PDF

Background/objectives: This study aimed to determine the percentage and duration of neutralizing antibodies against the Omicron variant in human milk after vaccination against SARS-CoV-2, considering the three different vaccine technologies approved in Brazil.

Methods: A cross-sectional study was conducted with lactating women who received the complete vaccination cycle with available vaccines (AstraZeneca, Pfizer, CoronaVac, and Janssen). The participants resided in Rio de Janeiro, and samples were collected from April to October 2022.

View Article and Find Full Text PDF

Want 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!