Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel. The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates …
Activating receptor tyrosine kinase RET (rarranged during transfection) gene alterations have been identified as oncogenic in multiple malignancies. RET gene rearrangements …
Infection by bacteria, viruses, and parasites may lead to fetal death, organ injury, or limited sequelae depending on the pathogen. Here, we consider the role of infection during …
J Amiel, E Sproat-Emison, M Garcia-Barcelo… - Journal of medical …, 2008 - jmg.bmj.com
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This …
M Kanatsu-Shinohara… - Annual review of cell and …, 2013 - annualreviews.org
Spermatogenesis originates from spermatogonial stem cells (SSCs). Development of the spermatogonial transplantation technique in 1994 provided the first functional assay to …
E Arighi, MG Borrello, H Sariola - Cytokine & growth factor reviews, 2005 - Elsevier
The variety of diseases caused by mutations in RET receptor tyrosine kinase provides a classic example of phenotypic heterogeneity. Gain-of-function mutations of RET are …
AT Regua, M Najjar, HW Lo - Frontiers in Oncology, 2022 - frontiersin.org
Rearranged during transfection (RET) receptor tyrosine kinase was first identified over thirty years ago as a novel transforming gene. Since its discovery and subsequent pathway …
SE Wahrle, H Jiang, M Parsadanian… - The Journal of …, 2008 - Am Soc Clin Investig
APOE genotype is a major genetic risk factor for late-onset Alzheimer disease (AD). ABCA1, a member of the ATP-binding cassette family of active transporters, lipidates apoE in the …
Background & Aims Hirschsprung disease (HSCR) is a life-threatening birth defect in which the distal colon is devoid of enteric neural ganglia. HSCR is treated by surgical removal of …