DDX3X syndrome is a genetic disorder that affects predominantly females. Patients with DDX3X syndrome may develop developmental delay or intellectual...
3 KB (415 words) - 15:15, 14 June 2024
ATP-dependent RNA helicase DDX3X is an enzyme that in humans is encoded by the DDX3X gene. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp...
17 KB (1,790 words) - 06:55, 15 April 2024
X-linked intellectual disability (redirect from Lindsay Burn syndrome)
X-linked syndromes include intellectual disability as part of the presentation. These include: Coffin–Lowry syndrome DDX3X syndrome MASA syndrome MECP2 duplication...
18 KB (1,927 words) - 16:56, 28 July 2024
de novo mutations in a set of genes. Mutations in three of these genes (DDX3X, TLK2 and HDAC8) were shared with those found in databases of individuals...
6 KB (598 words) - 11:20, 24 August 2024
sequential mutations of the RNA helicases (involved in RNA synthesis) DDX3X (found on the x chromosome) and DDX3Y (found on the y chromosome) lead to...
38 KB (4,416 words) - 08:01, 25 August 2024
the RNA helicase DDX3X. The 5' UTR of MITF contains important regulatory elements (IRES) that is recognized, bound and activated by DDX3X. Although, the...
43 KB (4,822 words) - 22:18, 10 June 2024
Y chromosome (section XX male syndrome)
males are born two Xs and a Y ("XXY", see Klinefelter syndrome), one X and two Ys (see XYY syndrome). Some females have three Xs (Trisomy X), and some have...
81 KB (8,153 words) - 22:55, 17 August 2024
CHD3, CHD4, CHD5, CHD6, CHD7, CHD8, CHD9 DEAD box/DEAD/DEAH box helicase: DDX3X, DDX5, DDX6, DDX10, DDX11, DDX12, DDX58, DHX8, DHX9, DHX37, DHX40, DHX58...
56 KB (6,916 words) - 17:01, 27 August 2024
are also seen in Gorlin syndrome as well as Turcot syndrome. Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A, and TBR1...
36 KB (3,455 words) - 22:51, 26 April 2024
has a homolog on the X chromosome (DDX3X). The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting...
7 KB (876 words) - 03:52, 1 April 2024