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Multiple Endocrine Neoplasia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for MEN include von Hippel−Lindau syndrome (pheochromocytoma, renal cell carcinoma, cerebellar and spinal hemangioblastoma, and retinal angioma; autosomal dominant disorder due to germline VHL pathogenic variant), tuberous sclerosis complex, hereditary paraganglioma-pheochromocytoma syndrome (due to SDHA, SDHB, SDHC, SDHD, and SDHAF2 pathogenic variants), TMEM127-associated susceptibility to pheochromocytoma (due to germline TMEM127 pathogenic variant), MAX-associated susceptibility to pheochromocytoma (due to MAX germline pathogenic variant), neurofibromatosis type 1 (NF1; pheochromocytoma, multiple café-au-lait macules, neurofibromas, Lisch nodules, axillary or inguinal freckling, and/or positive family history; due to NF1 pathogenic variant), polycythemia and paraganglioma/pheochromocytoma (due to germline DNMT3A, EGLN1, EGLN2, EPAS1, FH, HIF2A, IDH1, KIF1B, MDH2, and SLC25A11 pathogenic variants) [3,19,25].
Pheochromocytoma and Paraganglioma
Published in Giuseppe Mancia, Guido Grassi, Konstantinos P. Tsioufis, Anna F. Dominiczak, Enrico Agabiti Rosei, Manual of Hypertension of the European Society of Hypertension, 2019
Andrzej Januszewicz, Jacques W.M. Lenders, Graeme Eisenhofer, Aleksander Prejbisz
Until now, 16 different PPGL susceptibility genes have been reported to cause PPGLs by germline mutations, including NF1 (neurofibromatosis type 1), RET (rearranged during transfection, protooncogene associated with MEN type 2), VHL, SDHD/SDHC/SDHB/SDHAF2/SDHA (familial paraganglioma syndromes), TMEM 127 (transmembrane protein 127), MAX (myc-associated factor X), HIF2alfa (hypoxia inducible factor) and others (FH [fumarate hydratase], MDH2 [malate dehydrogenase 2], EGLN1 and EGLN2 [Egl-9 family hypoxia inducible factor 1 and 2], and KIF1Bβ [kinesin family member B]).
Thyroid paraganglioma – a rare entity
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2023
K Naidu, V Saksenberg, MF Suliman, B Bhana
TPG cells originate from primitive neural crest cells. It is postulated that TPGs arise from the inferior laryngeal ganglion that has either been drawn inferiorly by the recurrent laryngeal nerve to lie adjacent to the thyroid or develops within the thyroid capsule. Common embryology between TPGs and primary thyroid tumours can explain similar cytological features.7 The majority of PGs are sporadic; however, around 30–40% are associated with susceptibility genes (e.g. MEN1, NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, EGLN1, EGLN2, HIF2A, KIF1B, FH and MAX). Approximately 30% of head and neck PGs are hereditary and are associated with tumour syndromes such as multiple endocrine neoplasia (MEN), VHL disease, neurofibromatosis and familial paraganglioma syndromes.12,13
Newly identified tree shrew cytochrome P450 2B6 (CYP2B6) and pig CYP2B6b are functional drug-metabolising enzymes
Published in Xenobiotica, 2022
Yasuhiro Uno, Genki Ushirozako, Shotaro Uehara, Norie Murayama, Yuki Fujiki, Hiroaki Kawaguchi, Kyoko Tsukiyama-Kohara, Hiroshi Yamazaki
Dog, pig, and tree shrew CYP2B genes were found to form part of the large CYP2ABFGST gene cluster, along with CYP2A, CYP2F, CYP2G, CYP2S, and CYP2T genes. The gene cluster was located between EGLN2 and AXL in the genome, that is, the cluster was localised in corresponding genomic regions in humans, dogs, pigs, and tree shrews (Figure 3). However, within the gene cluster, the numbers of genes in each subfamily and their locations were different among these species. Through gene duplication, inversion, and insertion of genomic segments, the CYP2ABFGST gene cluster has diverged between species during evolution (Hu et al. 2008), resulting in ambiguous orthologous relationships to human genes, even for non-human primate species such as cynomolgus macaques (Uno et al. 2011).
LncRNA NORAD engages in psoriasis by binding to miR-26a to regulate keratinocyte proliferation
Published in Autoimmunity, 2021
Shuiqi Li, Xiaohua Zhu, Na Zhang, Ruixiang Cao, Lei Zhao, Xin Li, Jiang’an Zhang, Jianbin Yu
It is reported that long non-coding RNAs (lncRNAs) can be located in the cytoplasm or nucleus. Recent studies have shown that lncRNAs are expressed heterogeneously in tissues and involved in various physiological and pathological processes in vivo at the levels of transcription, post-transcription, and epigenetics [13]. LncRNA Non-coding RNA activated by DNA damage (NORAD) has been reported to be highly expressed in the tissues and melanoma cell lines of melanoma patients, and promoted the invasion and migration of malignant melanoma by regulating miR-205-EGln2, indicating its potential role in dermal diseases [14]. Also, its proliferative effect has been reported in other cells, such as gastric cancer cells, osteosarcoma cells, and prostate cancer cells [15–17]. In the preliminary experiments, we found that lncRNA NORAD expression in a mouse model of psoriasis was significantly higher than that in the control group (Supplementary Figure 2), suggesting that it might be involved in the development of psoriasis. Through bioinformatics predictions, we found that NORAD might bind to miR-26a, indicating that there may be an interaction between NORAD and miR-26a.