Sep 27, 2015 · Using an immortalized human granulosa cell line, SVOG3e, we determined that the D1709N-DICER1 hotspot mutation failed to produce 5p-derived ...
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D1709N). The sarcoma also harbored a somatic TP53 mutation: c.844C > T, p.R282W. Additional copy number alterations were identified in the CBME and sarcoma ...
Oct 1, 2021 · ... (D1709N) without a germline mutation. Brain. Pituitary blastoma. Pituitary blastoma is a neoplasm presenting in children under 2-years of ...
Dec 21, 2011 · We carried out RNA cleavage assays to compare the activity of DICER1 proteins containing the hot-spot D1709N, D1709E, and E1705K substitutions ...
The most common alterations in DICER1 are DICER1 Mutation (2.19%), DICER1 Amplification (0.09%), DICER1 D1709N (0.05%), DICER1 Loss (0.06%), and DICER1 ...
D1709N) in case 1 (figure 1j–l). Similarly, a nonsense somatic mutation (c.1232C>A, p.S411*) and a RNase IIIb somatic hotspot mutation (c.5425G>A; p.G1809R ...
Mar 28, 2022 · This D179N variant has increased resistance to ceftazidime and ceftazidime-avibactam when expressed in E. coli laboratory strains and maintains ...
In all 6 DCS tumors, biallelic DICER1 variants were identified, including an inactivating variant and one of two hotspot mutations D1709N and G1809R in the ...
DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome ...
There were ten mutations in D1709N. Type, Predisposing. Direction, Supports ... DICER1 D1709N. MP Expression, DICER1 D1709N. Disease, Sertoli-Leydig Cell Tumor.