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19 Possible Causes for HOXA5, gene

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  • Hand-Foot-Genital Syndrome

    This disorder is associated with loss-of-function mutations in the HOXA13 gene.[] Our expression studies did not support the hypothesis of an imprinted status of the HOXA2 , HOXA3 , HOXA5 , and HOXA11 genes in peripheral blood.[] Hand-foot genital syndrome is caused by mutations in the HOXA13 gene, which is one of the genes that control the development of the uterus.[]

  • Androgen Insensitivity Syndrome

    Blood samples were collected, and the AR genes were analyzed using PCR and direct sequencing.[] This has been evidenced by differences in HOXA5 methylation in cells from 46,XY females with CAIS and controls [ 41 ].[] […] molecular analyses of the AR gene.[]

  • B-Cell Chronic Lymphocytic Leukemia

    […] in which none of them showed peripheral blood mononuclear cells positivity for fibromodulin gene expression (0%) (p-value 0.006).[] AML 10–90 [46] CML 33 [46] HLA-F 6p21 Immune response ALL 14/33 B vs T [200] HOXA4 7p15 Homeobox gene ALL 69 Childhood [25] AML 64 [25] CLL 38 [25] CML 59/91 CP vs BC [25] HOXA5[] Our previous results indicated the ICOS gene has a role as a susceptibility locus to B-CLL.[]

  • Neuroblastoma

    Fusion of a kinase gene, ALK , to a nucleolar protein gene, NPM, in non-Hodgkin’s lymphoma . Science 263 , 1281–1284 (1994) 22. Griffin, C. A. et al.[] Fan Yang, Lin Miao, Yide Mei and Mian Wu , Retinoic acid-induced HOXA5 expression is co-regulated by HuR and miR-130a , Cellular Signalling , 10.1016/j.cellsig.2013.03.015[] “The normal role of the LMO1 gene is mainly to regulate gene transcription in the nervous system,” said Maris.[]

  • Cutis Laxa, Autosomal Recessive

    We identified a patient with recessive inheritance of a missense mutation (169G A; E57K) in the Fibulin-4 gene.[] HLA-DPB, HLA-DPB1, HLF, HM89, HME, HMFT1766, HMN2B, HMOX1, HMR, HMSNIA, HMSNL, HMW-MAA, HNFAG09, HNPCC8, HNPP, HO-1, HOMG4, HOX1, HOX1.1, HOX1.3, HOX1A, HOX1C, HOX2, HOX2G, HOXA5[] Therefore, the protein encoded by this gene may play a role in vascular development and remodeling.[]

  • Baller-Gerold Syndrome

    Figure 4 Schematic structure of the RECQL4 gene.[] Protein GLB1; LGALS2; GLA; LGALS9L1; LGALS2A; LGALS1L1; LGALS3L; LGALS2B Function protein binding Related Protein HIST1H3A; C1orf187; C4orf33; ELMO1; TCEANC; C3orf62; MDM2; HOXA5[] Gene Specifics: Gene Notes RECQL4 Single exon deletions/duplications of exon 1 to 3 of the RECQL4 gene (NM_004260.3) are not reliably detected by this method.[]

  • Primary Mediastinal Large B-Cell Lymphoma

    The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases.[] Based on the epigenetic profiles we were able to establish class prediction models utilizing genes such as HOXA5, MMP9, EPHA7 and DAPK1 which could distinguish between mediastinal[] The only variant segregating in all 4 patients and not reported in genetic databases was 5533C A (His1845Asn) in the MLL gene.[]

  • Acute Megakaryocytic Leukemia

    We have identified the two genes involved in this translocation. Both genes possess related sequences in the Drosophila genome.[] Affected polycomb targets confirmed by chromatin immunoprecipitation include genes upregulated in MLL rearranged leukemia such as HOXA5 , HOXA7 , HOXA9 , HOXA10 , MEIS1 ,[] Thus, CCND1-BCL2 Gene Network is predicted to be a direct target of amifostine treating human acute megakaryocytic leukemia, which may provide a novel potential target for[]

  • Optic Atrophy-Intellectual Disability Syndrome

    Finally, our data expand both the genetic and phenotypic spectrum associated with NR2F1 gene mutations.[] In this study, we identify a distinguishing feature of two classes of PRC2 target genes, represented by the Nr2F1 (Coup-TF1) and the Hoxa5 gene, respectively.[] In conclusion, our data expand both the genetic and phenotypic spectrum associated with ATP8A2 gene mutations.[]

  • Gastric Cancer

    Abstract The reprimo ( RPRM ) gene family is a group of single exon genes present exclusively within the vertebrate lineage.[] Abstract The abnormal expression of homeobox A5 (HOXA5) has been observed in breast and colon cancer; however, the clinical significance of HOXA5 in gastric cancer (GC) is[] HER2 gene amplification may be involved in tumor progression in early gastric cancer.[]

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