Medical Knowledge Cockpit basal ganglia calcification

• Gap junction
  Homo sapiens (human) 2 genes

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PDGFB

Somatic tumors

DFSP

Tumor types germline

Cancer Syndrom

Translocation partner

COL1A1

Name

platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)

Chromosome banding

22q12.3-q13.1

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease

PDGFRB

• Abnormal kidney development and hematological disorders in PDGF beta-receptor mutant mice
• Pericyte loss and microaneurysm formation in PDGF-B-deficient mice
• Paracrine PDGF-B/PDGF-Rbeta signaling controls mesangial cell development in kidney glomeruli
• Mice deficient for PDGF B show renal, cardiovascular, and hematological abnormalities
• Blood vessel maturation: vascular development comes of age

PDGFB

• Nucleotide sequence of transforming human c-sis cDNA clones with homology to platelet-derived growth factor