Genetics

1. Haploinsufficiency of Sim1 or Mc4r in the hypothalamus result in an obesity phenotype in mice and humans. 2. In...

1. Proband exome sequencing revealed that approximately 10% of patients in this study cohort had a detectable genetic variant of...

1. In this randomized controlled trial, prophylactic lanadelumab reduced attack frequency and severity in patients with hereditary angioedema compared to...

1. Women with a BRCA1 mutation had lower anti-Müllerian hormone (AMH) levels than non-carriers. 2. There was no association between...

1. Analysis of genomewide data revealed three robust, nonoverlapping, and clinically significant tumor classes based on presence of IDH mutation...

1. In this study of seven individuals with Wiskott-Aldrich Syndrome (WAS), gene therapy improved eczema, susceptibility to infection, autoimmunity, and...

In this section, we highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Cell-free...

1. Among black American carriers of the amyloidogenic V122I transthyretin variant, there was no increased mortality compared to noncarriers over...

1. Women who more closely followed a Mediterranean-style diet had longer telomeres. 2. Individual components of the Mediterranean diet were...

1. Genetic mutations that led to the inactivation NPC1L1, a lipid transporter protein, were linked to lower low-density lipoprotein (LDL)...