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26 Possible Causes for Mutation in the RARS Gene

  • Small Cell Carcinoma of the Lung

    RAR-beta, and RASSF1.[genome.jp] Point mutations within the K-RAS gene inactivate GTPase activity and the p21-RAS protein continuously transmits growth signals to the nucleus.[genome.jp] Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS, EGFR and EML4-ALK, and inactivation of tumorsuppressor genes, such as p53, p16INK4a,[genome.jp]

  • Refractory Anemia

    Abstract The presence of SF3B1 gene mutations is a hallmark of refractory anemia with ring sideroblasts (RARS).[ncbi.nlm.nih.gov] SF3B1 mutations were detected in 129 of 159 cases (81%) of RARS or RCMD-RS.[molecularmedicine.unipv.it] Furthermore, a mutation of the remaining TP53 gene in exon 6 was evidenced by a single strand conformation polymorphism technique.[ncbi.nlm.nih.gov]

  • Myelodysplasia

    In a study of 533 patients (pts) with MDS, 150 (28.1%) was found to have SF3B1 gene mutation, which has a positive predictive value of 97.7% for RARS and correlates well with[jhoonline.biomedcentral.com]

  • Myeloproliferative Disease

    Alternatively, the occurrence of a mutation in an unknown gene, capable of causing mitochondrial iron loading and ineffective erythropoiesis, in a patient with ET or PMF may[haematologica.org] The acquisition of a mutation in JAK2 or MPL in a RARS patient might lead to the development of thrombocytosis, and change the clinical phenotype from RARS to RARS-T.[haematologica.org] […] result in a myelodysplastic/myeloproliferative phenotype (RARS-T).[haematologica.org]

  • Primary Myelofibrosis

    Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias.[doi.org] Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis (RARS-T).[doi.org]

  • Diabetes Insipidus

    […] α ) and ets variant 6-runt related transcription factor 1 (TEL-AML1) fusion genes.[jstage.jst.go.jp] The patient was also negative for mutation at codon 617 of the Janus kinase 2 (JAK2V617), fms related tyrosine kinase 3 internal tandem duplications (FLT-ITD), CCAAT/enhancer[jstage.jst.go.jp] […] transcription factor 3-pre B cell leukemia homeobox 1 (E2A-PBX1), mixed-lineage leukemia-AF4/FMR2 family member 1 (MLL-AF4), promyelocytic leukemia-retinoic acid receptor alpha (PML-RaR[jstage.jst.go.jp]

  • Myelofibrosis

    Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias.[doi.org] Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis (RARS-T).[doi.org]

  • Idiopathic Refractory Anemia

    ABCB7 gene sequencing and promoter methylation Direct sequencing of ABCB7, including the promoter region, was performed on DNA from 13 RARS patients and did not show any mutations[journals.plos.org] (analogous to the down regulation of the alpha-globin genes in the acquired HbH associated with MDS caused by mutations in the ATRX gene) [22].[journals.plos.org] XLSA/A is caused by partial inactivating mutations of the ABCB7 ATP-binding cassette transporter gene, which functions to enable transport of iron from the mitochondria to[journals.plos.org]

  • Degenerative Disorder

    This group includes Pelizaeus–Merzbacher disease (PMD), caused by PLP1 gene mutations, and numerous other disorders assigned to defects in GJC2, AIMP1, HSPD1, FAM126A, POLR3A[doi.org] , POLR3B, RARS, PYCR2, POLR1C, and VPS11 [ 36 ].[doi.org]

  • RAS-Associated Autoimmune Leukoproliferative Disease

    In addition, one patient (RARS) was shown to have an activated NRAS gene detected by a tumorigenicity assay and Southern blot analyses [39].[wikigenes.org] We examined a prospective cohort of 43 acute myeloid leukemia (AML) patients admitted to the University of Maryland Cancer Center for first and second exon mutations of NRAS[wikigenes.org]

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