RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features.

Purpose: Receptor-interacting serine/threonine-protein kinase 1 RIPK1) is an important regulator of necroptosis and inflammatory responses. We present the clinical features, genetic analysis and immune work-up of two patients with infantile-onset inflammatory bowel disease (IBD) resulting from mutations.

Methods: Whole exome and Sanger sequencing was performed in two IBD patients.

SurviveAI: Long Term Survival Prediction of Cancer Patients Based on Somatic RNA-Seq Expression.

Motivation: Prediction of cancer outcome is a major challenge in oncology and is essential for treatment planning. Repositories such as The Cancer Genome Atlas (TCGA) contain vast amounts of data for many types of cancers. Our goal was to create reliable prediction models using TCGA data and validate them using an external dataset.

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Background: Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation challenges. Consequently, we established a national nephrogenetics clinic to apply a multidisciplinary model.

Dynamic regulation of N,2'-O-dimethyladenosine (mAm) in obesity.

The prevalent mAm mRNA cap modification was recently identified as a valid target for removal by the human obesity gene FTO along with the previously established mA mRNA modification. However, the deposition and dynamics of mAm in regulating obesity are unknown. Here, we investigate the liver mA/m methylomes in mice fed on a high fat Western-diet and in ob/ob mice.