Medical Knowledge Cockpit dyskeratosis

NLRP1

• Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
• Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins.

DKC1

• Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene

TERC

• Telomerase RNAs of different ciliates have a common secondary structure and a permuted template

TINF2

• A human protein-protein interaction network: a resource for annotating the proteome
• Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides
• Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library

TERT

• Dendritic cells reconstituted with human telomerase gene induce potent cytotoxic T-cell response against different types of tumors
• The telomerase catalytic subunit is a widely expressed tumor-associated antigen recognized by cytotoxic T lymphocytes
• 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

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

• Telomere Extension By Telomerase
  species not specified 3 genes

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