Altered expression of AKT1 and P38A in the colons of patients with Hirschsprung’s disease

Wu, Lihua; Xiao, Ping; Li, Qi; Zhen, Zhang; Wang, Hui; Jiang, Qian; Li, Long

doi:10.1007/s00383-020-04653-9

Cited by 1 publication

(2 citation statements)

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“…HSCR is a rare disease (population incidence 1:5000 live births) caused by a disturbance in the development of the enteric nervous system and characterized by the absence of enteric ganglion cells in a part of the lower gastrointestinal tract that is variable in length [ 36 , 78 ]. The main treatment strategy is surgical removal of the affected portion of intestine, but the motility problems remain, thus limiting the long-term therapeutic efficacy of this approach.…”

Section: Role Of Ret In Various Disease Statesmentioning

confidence: 99%

“…Genetic factors play a major role in the pathogenesis of HSCR, with RET being the primary gene associated with the disease. Mutations in RET were found in approximately 50% of patients with familial HSCR and up to 20% of sporadic cases [ 78 ]. According to recent metaanalysis data, mutations associated with HSCR can occur almost in any site of Ret, but they are most commonly found in exons 13 (11.32%), 15 (7.55%) (both coding RET kinase domain), and 10 (7.55%) (coding a part of cystein-rich domain) [ 79 , 80 ].…”

Section: Role Of Ret In Various Disease Statesmentioning

confidence: 99%

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RET Receptor Tyrosine Kinase: Role in Neurodegeneration, Obesity, and Cancer

Mahato

Sidorova

2020

IJMS

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Rearranged during transfection (RET) is the tyrosine kinase receptor that under normal circumstances interacts with ligand at the cell surface and mediates various essential roles in a variety of cellular processes such as proliferation, differentiation, survival, migration, and metabolism. RET plays a pivotal role in the development of both peripheral and central nervous systems. RET is expressed from early stages of embryogenesis and remains expressed throughout all life stages. Mutations either activating or inhibiting RET result in several aggressive diseases, namely cancer and Hirschsprung disease. However, the physiological ligand-dependent activation of RET receptor is important for the survival and maintenance of several neuronal populations, appetite, and weight gain control, thus providing an opportunity for the development of disease-modifying therapeutics against neurodegeneration and obesity. In this review, we describe the structure of RET, its signaling, and its role in both normal conditions as well as in several disorders. We highlight the differences in the signaling and outcomes of constitutive and ligand-induced RET activation. Finally, we review the data on recently developed small molecular weight RET agonists and their potential for the treatment of various diseases.

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Section: Role Of Ret In Various Disease Statesmentioning

confidence: 99%