Bde

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Related to HOXD13: synpolydactyly

Bde

or

bde

abbreviation for
(Military) brigade
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References in periodicals archive ?
Of the 39 HOX genes, mutations in 10 HOX genes (HOXA1, HOXA2, HOXA11, HOXA13, HOXB1, HOXB13, HOXC13, HOXD4, HOXD10, and HOXD13) have been found to cause human disorders with variations in their inheritance patterns, penetrance, expressivity, and mechanisms of pathogenesis [1].
In this regard, the differentiation of the genital tubercle after the initiation of Shh signaling from the urethral epithelium leads to the upregulation of bone morphogenetic protein 4 (Bmp4), homeobox protein a13 (Hoxa13), Hoxd13, and Shh receptor, Patc, gene expression.
Differential diagnoses for BDE are Turner syndrome, tricho-rhino-phalangeal syndrome (TRPS) including TRPS type I, (OMIM #190350), TRPS type II (OMIM #150230) and TRPS type III, (OMIM #190351), BDE with short stature, parathyroid hormone-like hormone (PTHLH, OMIM #613382), isolated BDE: HOXD13 type (OMIM #113300) and BD mental retardation syndrome (OMIM #600430) (56).
MSX1, CART1, P63 (P73L), RUNX2, and HOXD13 genes were sequenced in 9 previously reported families, but no disease-causing mutations were found.5
developed a 6-gene panel using MethyLight to test for methylation in serum [8] and found that SFN, hMLH1, HOXD13, PCDHGB7, RASSF1, and P16 were methylated in breast cancer patient serum [8].
After protein block (10% goat serum), the slides were incubated with primary antibody against HOXB9 (1:200, Abcam, Cambridge, MA, USA), HOXB13 (1:200, Abcam, Cambridge, MA, USA), and HOXD13 (1:100, Abcam, Cambridge, MA, USA) overnight at 4[degrees]C.
A 117 kb microdeletion removing HOXD9, HOXD13 and EVX2 causes synpolydactyly.
Fernando Casares at the same institute introduced extra Hoxd13, a gene known to play a role in distinguishing body parts, at the tip of a zebrafish embryo's fin.
Gene dosage-dependent effects of the Hoxa-13 and Hoxd13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts.
Polyalanine expansions have been described in 9 genes (HOXD13, RUNX2, ZIC2, HOXA13, FOXL2, SOX3, ARX, PHOX2B, and PABPNI) as the cause of congenital defects (8, 9).