The genomic profiling and MAMLD1 expression in human and canines with Cushing’s disease

Autor: Andrew Wang, Stewart G. Neill, Scott Newman, Marianna A. Tryfonidou, Adriana Ioachimescu, Michael R. Rossi, Björn P. Meij, Nelson M. Oyesiku
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-11 (2021)
Druh dokumentu: article
ISSN: 1472-6823
24728896
DOI: 10.1186/s12902-021-00845-z
Popis: Abstract Background Cushing’s disease (CD) is defined as hypercortisolemia caused by adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas (corticotroph PA) that afflicts humans and dogs. In order to map common aberrant genomic features of CD between humans and dogs, we performed genomic sequencing and immunostaining on corticotroph PA. Methods For inclusion, humans and dog were diagnosed with CD. Whole exome sequencing (WES) was conducted on 6 human corticotroph PA. Transcriptome RNA-Seq was performed on 6 human and 7 dog corticotroph PA. Immunohistochemistry (IHC) was complete on 31 human corticotroph PA. Corticotroph PA were compared with normal tissue and between species analysis were also performed. Results Eight genes (MAMLD1, MNX1, RASEF, TBX19, BIRC5, TK1, GLDC, FAM131B) were significantly (P
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