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Familial Hyperparathyroidism
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Luigia Cinque, Alfredo Scillitani, Vito Guarnieri
Studies of patients with hypoparathyroidism and mouse models revealed that the development of parathyroid glands from endodermal cells of the third and fourth pharyngeal pouches and neural crest arising from embryonic mid- and hind-brain is coordinated by several genes encoding transcription factors including Gcm2 and other transcription factors such as Tbx1, Gata3, Sox3, Aire1, Hoxs, and Paxs. Their expression has been proved to be normal in the third pharyngeal pouch of Gcm2−/− mouse embryos and they act upstream of Gcm2 in a transcriptional regulatory cascade [121]. These studies were able to elucidate the molecular mechanism to promote the parathyroid development: cDNA microarray analysis of mice lacking Tbx1 showed downregulation of Gcm2 in the pharyngeal region, indicating that Tbx1, regulated in turn by Sonic Hedgehog (Shh), is upstream of Gcm2 [122,123].Grigorieva et al. demonstrated that GCMB is transcriptionally regulated by GATA3, a transcription factor responsible of HDR syndrome (MIM146255), that binds the promoter of the human GCMB and is implicated in the maintained differentiation and survival of parathyroid progenitor cells [124].Hoxa3 seems to be required for the initiation of Gcm2 expression in the third pharyngeal pouches. Moreover, Hoxa3 and Pax1 are required for the maintenance of Gcm2 expression [125].
Transcriptome analysis identifies key regulators and networks in Acute myeloid leukemia
Published in Hematology, 2019
Jiaxin Ye, Daliang Luo, Jianhong Yu, Sibo Zhu
We also use IPA to predict the potential regulator of these targeted genes. As shown in Table 3, PBX3 was predicted as a top transcription regulator of six target genes in the regulatory network HOXA10, HOXA3, HOXA5, HOXA6, HOXA7, and HOXA9. HOXA and PBX3 are independent predictors of poor survival in patients with acute myeloid leukemia [9,10] and also associated with the chemotherapy of AML. Except for PBX3, there are also 12 genes that were predicted as a transcription regulator of several family members of homeobox A, including the KAT6A gene which was reported as a commonly rearranged gene in AML [11]. Our results suggested regulation of HOXA gene expression might be associated with the development of AML.