Medical Knowledge Cockpit myofibromatosis, infantile

• NICD trafficks to nucleus
  species not specified one gene

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• Maturation of Notch precursor via proteolytic cleavage
  species not specified one gene

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PDGFRB

Somatic tumors

MPN, AML, CMML, CML

Tumor types germline

Cancer Syndrom

Translocation partner

ETV6, TRIP11, HIP1, RABEP1, H4, NIN, SPECC1, PDE4DIP

Name

platelet-derived growth factor receptor, beta polypeptide

Chromosome banding

5q31-q32

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease

NOTCH3

• Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3
• Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease
• Notch3 is necessary for neuronal differentiation and maturation in the adult spinal cord

PDGFRB

• RasGAP Promotes Autophagy and Thereby Suppresses Platelet-Derived Growth Factor Receptor-Mediated Signaling Events, Cellular Responses, and Pathology
• 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