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Multiple Endocrine Neoplasia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
The CDKN1B (cyclin dependent kinase inhibitor 1B or P27Kip1) gene on chromosome 12p13.1 measures 7.3 kb and encodes a 198 aa, 22 kDa protein (p27), which binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes and thus controls the cell cycle progression at G1. Heterozygous loss-of-function mutations in the CDKN1B gene reduce the amount of functional p27, leading to unchecked cell growth and division. Typically occurring in MEN 1 patients without MEN1 mutations (20% of cases), germline CDNK1B mutations may be occasionally associated with sporadic primary hyperparathyroidism [12,13].
Multiple Endocrine Neoplasia
Published in Dongyou Liu, Tumors and Cancers, 2017
The CDKN1B tumor suppressor gene in MEN4 is located on chromosome 12p13 and encodes a 196 aa protein (p27) belonging to the kinase inhibitory protein/cyclin-dependent kinase (CDK) inhibitor interacting protein (KIP/CIP) family of cell cycle inhibitors; p27 binds to cyclinE/CDK2 and cyclinA/CDK2 complexes in response to either mitogenic or anti-mitogenic stimuli, prevents pRb phosphorylation, and stops the cells in the G1 phase from progression to the S phase. Heterozygous loss-of-function mutations (eight identified so far) in the CDKN1B gene reduce the amount of functional p27, allowing cells to grow and divide unchecked. Interestingly, germline CDNK1B mutations may occasionally occur in sporadic (i.e., nonfamilial) cases of primary hyperparathyroidism [5,7].
Multiple endocrine neoplasia *
Published in Demetrius Pertsemlidis, William B. Inabnet III, Michel Gagner, Endocrine Surgery, 2017
Studies initially in a rat model with spontaneous MEN-like syndrome led to the recent discovery of a new gene responsible for some cases of MEN syndrome primarily causing pituitary and parathyroid tumors now called MEN4. The gene CDKN1B encodes pKIP1, a tumor suppressor that binds to and inhibits cyclin/cyclin-dependent kinase complexes, preventing cell cycle progression [169, 170].
Study on the ameliorating effect of miR-221-3p on the nerve cells injury induced by sevoflurane
Published in International Journal of Neuroscience, 2021
Qirui Wang, Xin Tian, Qijuan Lu, Kun Liu, Jiekun Gong
Apoptosis was detected by flow cytometry, and apoptosis-related genes expressions were detected by WB and qRT-PCR. Compared with control and NC groups, the apoptosis rate (Figure 5(C–E)) and the levels of Bax and cleaved caspase-3 (Figure 6(A–F)) in mimic and siCDKN1B groups were down-regulated, while the Bcl-2 level (Figure 6(A–F)) was up-regulated (p < 0.05). However, the apoptosis rate (Figure 5(C–E)) and the levels of Bax and cleaved caspase-3 (Figure 6(A–F)) in inhibitor group and CDKN1B group were up-regulated, while the Bcl-2 level (Figure 6(A–F)) was down-regulated (p < 0.05). In mimic + CDKN1B group, the apoptosis rate (Figure 5(C,E)) and the levels of Bax and cleaved caspase-3 (Figure 6(A–C)) were higher than those in mimic group and lower than those in CDKN1B group (p < 0.05), while the Bcl-2 level (Figure 6(A–C)) was lower than that in mimic group and higher than that in CDKN1B group (Figure 6(A–C), p < 0.05). In inhibitor + siCDKN1B group, the apoptosis rate (Figure 5(D,E)) and the levels of Bax and cleaved caspase-3 (Figure 6(D–F)) were lower than those in inhibitor group and higher than those in siCDKN1B group, while the Bcl-2 level (Figure 6(D–F)) was lower than that in siCDKN1B group and higher than that in inhibitor group (p < 0.05). CDKN1B promoted apoptosis, and partially reversed the effects of miR-221-3p mimic inhibiting apoptosis. The siCDKN1B inhibited apoptosis and partially reversed the effect of miR-221-3p inhibitor promoting apoptosis.
Targeting CD123 in BPDCN: an emerging field
Published in Expert Review of Hematology, 2021
Adam J DiPippo, Nathaniel R Wilson, Naveen Pemmaraju
The pathogenesis of BPDCN is complex and poorly understood [12]. As recently as 2016, BPDCN was classified as a subtype of AML, with no formal response criteria [1,4]. BPDCN is a rare clonal disorder of hematopoiesis affecting plasmacytoid dendritic cell precursors (pDC) that often presents as indolent skin lesions with the propensity for leukemic transformation [2,13]. pDCs make up just 0.5% of circulating lymphocytes and monocytes and play a vital role in innate and adaptive immune response through release of multiple factors in response to foreign antigens, including interferons, IL-6, IL-8, IL-12 and tumor necrosis factor [2]. It is believed that neoplastic pDCs of BPDCN originate in the skin, before disseminating to the bone marrow and other anatomic sites. Molecular abnormalities that are not disease-specific generally involve loss of key cell-cycle regulating genomic regions and tumor suppressor genes, including CDKN2A, CDKN1B, RB1, and IKZF1. Also implicated in BPDCN cases are MYC protein overexpression, TET2 mutations, activated RAS signaling, abnormal methylation patterns, PD-L1 expression, and high BCL2 expression [2,14–19]. Commonly associated chromosomal abnormalities in BPDCN include 5q, 6q, monosomy 9, 12p, 13q, and 15q [6,7,20–24].
Effect of low dose of berberine on the radioresistance of cervical cancer cells via a PI3K/HIF-1 pathway under nutrient-deprived conditions
Published in International Journal of Radiation Biology, 2020
Xiaozhu Zeng, Linghong Wan, Yu Wang, Jinmin Xue, Huaju Yang, Yuxi Zhu
Moreover, we tried to detect related regulating the signal pathways. To further investigate the relationship between the nutrient deprivation conditions and the upstream of HIF-1α, we explore the key factors in this pathway, such as PI3K and mTOR. The results of the western blot showed that the phosphorylation of PI3K and mTOR under hypoxia or low glucose is higher than that under both hypoxic and low-glucose conditions. Moreover, both of the HIF-1α and its downstream gene CDKN1B were also inactivated by hypoxic and low-glucose conditions as we found previously (Figure 3(A)). These results showed that the decrease of glucose and oxygen concentration suppressed most factors in this pathway.