Medical Knowledge Cockpit coronary artery disease

TERT

Somatic tumors

melanoma, glioblastoma, hepatocellular carcinoma, bladder, skin basal cell, skin squamous cell, mesothelioma, medulloblastoma, other tumour types

Tumor types germline

melanoma

Cancer Syndrom

Translocation partner

Name

telomerase reverse transcriptase

Chromosome banding

5p15.33

Cancer molecular gen.

Dom

Mutation type

Promoter Mis

Other syndrome disease

Dyskeratosis congenita, Telomere-related pulmonary fibrosis and/or bone marrow failure 1

ABCA1

• Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I
• Molecular and functional interaction of the ATP-binding cassette transporter A1 with Fas-associated death domain protein
• The carboxyterminus of the ATP-binding cassette transporter A1 interacts with a beta2-syntrophin/utrophin complex

MEF2A

• Regulation of the MEF2 family of transcription factors by p38
• Targeting of p38 mitogen-activated protein kinases to MEF2 transcription factors
• MEF2 protein expression, DNA binding specificity and complex composition, and transcriptional activity in muscle and non-muscle cells
• Smad proteins function as co-modulators for MEF2 transcriptional regulatory proteins

LRP6

• SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor.
• Mesd binds to mature LDL-receptor-related protein-6 and antagonizes ligand binding.
• The low density lipoprotein receptor-related protein 6 interacts with glycogen synthase kinase 3 and attenuates activity.

CCL2

• Human recombinant monocyte chemotactic protein and other C-C chemokines bind and induce directional migration of dendritic cells in vitro
• Localization of monocyte chemotactic protein-1 gene (SCYA2) to human chromosome 17q11.2-q21.1
• Human monocyte chemoattractant protein-1 (MCP-1). Full-length cDNA cloning, expression in mitogen-stimulated blood mononuclear leukocytes, and sequence similarity to mouse competence gene JE
• Cloning and sequencing of the cDNA for human monocyte chemotactic and activating factor (MCAF)

CX3CR1

• Fractalkine-mediated signals regulate cell-survival and immune-modulatory responses in intestinal epithelial cells
• Coreceptor utilization of HIV type 1 subtype E viral isolates from Thai men with HIV type 1-infected and uninfected wives

LPA

• Effect of moderate alcohol consumption on lp(a) lipoprotein concentrations. Reduction is supported by other studies
• Lipoprotein(a) should be taken much more seriously
• Apolipoprotein(a) isoforms and coronary heart disease in men: a nested case-control study
• High levels of Lp(a) with a small apo(a) isoform are associated with coronary artery disease in African American and white men
• Contribution of the apo[a] phenotype to plasma Lp[a] concentrations shows considerable ethnic variation

• Serum LP(a) levels in African aboriginal Pygmies and Bantus, compared with Caucasian and Asian population samples
• Genetics of the Lp(a)/apo(a) system in an autochthonous Black African population from the Gabon
• The importance of the relation between lipoprotein(a) and lipids for development of atherosclerosis and cardiovascular disease
• Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey
• Associations between lipoprotein(a) levels and cardiovascular outcomes in black and white subjects: the Atherosclerosis Risk in Communities (ARIC) Study
• Use of a reference material proposed by the International Federation of Clinical Chemistry and Laboratory Medicine to evaluate analytical methods for the determination of plasma lipoprotein(a)

IRS1

• Interaction of Janus kinases JAK-1 and JAK-2 with the insulin receptor and the insulin-like growth factor-1 receptor
• Signal transducer and activator of transcription (STAT)-induced STAT inhibitor 1 (SSI-1)/suppressor of cytokine signaling 1 (SOCS1) inhibits insulin signal transduction pathway through modulating insulin receptor substrate 1 (IRS-1) phosphorylation
• Phosphorylation of Ser307 in insulin receptor substrate-1 blocks interactions with the insulin receptor and inhibits insulin action
• The c-Jun NH(2)-terminal kinase promotes insulin resistance during association with insulin receptor substrate-1 and phosphorylation of Ser(307)
• Insulin and insulinomimetic agents induce activation of phosphatidylinositol 3'-kinase upon its association with pp185 (IRS-1) in intact rat livers

• Hyperosmotic stress inhibits insulin receptor substrate-1 function by distinct mechanisms in 3T3-L1 adipocytes
• An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events

KL

• KLOTHO gene polymorphisms G-395A and C1818T are associated with lipid and glucose metabolism, bone mineral density and systolic blood pressure in Japanese healthy subjects
• A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population
• High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men
• Klotho: an antiaging protein involved in mineral and vitamin D metabolism

PON1

• Knockdown of paraoxonase 1 expression influences the ageing of human dermal microvascular endothelial cells
• Longitudinal changes in PON1 enzymatic activities in Mexican-American mothers and children with different genotypes and haplotypes
• No association between paraoxonase 1 (PON1) gene polymorphisms and susceptibility to Parkinson's disease in a Chinese population

PON2

• Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence

TERT

• A new era for cancer immunotherapy based on the genes that encode cancer antigens
• Immortalization eliminates a roadblock during cellular reprogramming into iPS cells
• Induction of pluripotent stem cells from adult human fibroblasts by defined factors
• Telomeres acquire embryonic stem cell characteristics in induced pluripotent stem cells
• Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells

• Linking functional decline of telomeres, mitochondria and stem cells during ageing

• multiple antiapoptotic pathways from igf-1r signaling lead to bad phosphorylation
  species not specified one gene

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• growth hormone signaling pathway
  species not specified one gene

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• multi-step regulation of transcription by pitx2
  species not specified one gene

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• insulin signaling pathway
  species not specified one gene

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• the igf-1 receptor and longevity
  species not specified one gene

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