Medical Knowledge Cockpit leukemia, acute myeloid

• PI3K-Akt signaling pathway
  Homo sapiens (human) one gene

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• Melanogenesis
  Homo sapiens (human) one gene

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• Regulation of actin cytoskeleton
  Homo sapiens (human) one gene

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SH3GL1

Somatic tumors

AL

Tumor types germline

Cancer Syndrom

Translocation partner

KMT2A

Name

SH3-domain GRB2-like 1 (EEN)

Chromosome banding

19p13.3

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease

ARHGEF12

Somatic tumors

AML

Tumor types germline

Cancer Syndrom

Translocation partner

KMT2A

Name

RHO guanine nucleotide exchange factor (GEF) 12 (LARG)

Chromosome banding

11q23.3

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease

MLF1

• The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1

SH3GL1

• A novel SH3-containing human gene family preferentially expressed in the central nervous system

ARHGEF12

• Interaction of plexin-B1 with PDZ domain-containing Rho guanine nucleotide exchange factors

CEBPA

• Molecular heterogeneity and prognostic biomarkers in adults with acute myeloid leukemia and normal cytogenetics.

FLT3

• Compassionate use of sorafenib in FLT3-ITD-positive acute myeloid leukemia: sustained regression before and after allogeneic stem cell transplantation

KIT

• Grap is a novel SH3-SH2-SH3 adaptor protein that couples tyrosine kinases to the Ras pathway
• A recombinant ectodomain of the receptor for the stem cell factor (SCF) retains ligand-induced receptor dimerization and antagonizes SCF-stimulated cellular responses
• Soluble c-kit proteins and antireceptor monoclonal antibodies confine the binding site of the stem cell factor
• Adaptor protein Lnk associates with Tyr(568) in c-Kit

LPP

• LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel meo LOmber of the LIM protein gene family

NPM1

• Nucleophosmin/B23 is a candidate substrate for the BRCA1-BARD1 ubiquitin ligase

NUP214

• Cloning and characterization of human karyopherin beta3
• Karyopherin beta2 mediates nuclear import of a mRNA binding protein
• Nup84, a novel nucleoporin that is associated with CAN/Nup214 on the cytoplasmic face of the nuclear pore complex

PICALM

• Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

RUNX1

• SLC22A4 and RUNX1: identification of RA susceptible genes
• Implications of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome (MDS): future molecular therapeutic directions for MDS
• Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region
• RUNX1/AML1: a central player in hematopoiesis

WHSC1L1

• The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?

ETV6

• The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion
• The novel activation of ABL by fusion to an ets-related gene, TEL
• Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation
• Biallelic alterations of both ETV6 and CDKN1B genes in a t(12;21) childhood acute lymphoblastic leukemia case
• Genomic organization of TEL: the human ETS-variant gene 6

• Normalization and subtraction: two approaches to facilitate gene discovery

SEPT9

• Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11
• Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours
• Possible role of Rho/Rhotekin signaling in mammalian septin organization

ABL2

• Diversity of structures and properties among catalases

GATA2

• Association of erythroid transcription factors: complexes involving the LIM protein RBTN2 and the zinc-finger protein GATA1
• Regulation of GATA-2 phosphorylation by mitogen-activated protein kinase and interleukin-3
• An early haematopoietic defect in mice lacking the transcription factor GATA-2
• Ectopic expression of a conditional GATA-2/estrogen receptor chimera arrests erythroid differentiation in a hormone-dependent manner

TERT

• Lung cancer susceptibility locus at 5p15.33
• InTERTesting association between telomerase, mTOR and phytochemicals
• Telomere shortening and apoptosis in telomerase-inhibited human tumor cells
• Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis
• Cytotoxic T cell immunity against telomerase reverse transcriptase in humans

• Dendritic cells reconstituted with human telomerase gene induce potent cytotoxic T-cell response against different types of tumors