SMAD4 is inactivated in the majority of pancreatic ductal adenocarcinomas (PDAC) with
concurrent mutational inactivation of the INK4A/ARF tumor suppressor locus and activation of …

Background Pancreatic ductal adenocarcinoma (PDAC) carries an extremely poor prognosis,
typically presenting with metastasis at the time of diagnosis and exhibiting profound …

The metabolic adaptations to fasting in the liver are largely controlled by the nuclear
hormone receptor peroxisome proliferator-activated receptor alpha (PPARα), where PPARα …

Lkb1 is a central regulator of cell polarity and energy metabolism through its capacity to
activate the AMP-activated protein kinase (AMPK)–related family of protein kinases. Germ line–…

Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy
(DCM). Exome sequencing in a neonate with severe DCM revealed a homozygous …

Background Genes associated with hereditary breast and ovarian cancer (HBOC) and
colorectal cancer (CRC) predisposition have been shown to play a role in pancreatic cancer …

… Author links open overlay panel Justin H. Berger MD, PhD a , Feiyan Chen PhD b ,
Jennifer A Faerber PhD b , Michael L. O'Byrne MD, MSCE a c d 1 , Julie A. Brothers MD a 1 …

Striated muscle needs to maintain cellular homeostasis in adaptation to increases in
physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The …

Purpose Pediatric cardiomyopathy is rare, has a broad differential diagnosis, results in high
morbidity and mortality, and has suboptimal diagnostic yield using next-generation …

The novel coronavirus-2019 (COVID-19) has caused a global pandemic of historical
proportions, infecting millions of people worldwide. Due to its high mortality rate and a paucity of …