Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitogen-activierte Proteinkinase 8-interagierendes Protein 1

Das MAPK8IP1-Gen kodiert ein einen Regulator der beta-Zellfunktion. Mutationen rufen eine dominant vererbte Diabetes Typ 2-Neigung hervor.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Erbliche Diabetesneigung
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1

Referenzen:

1.

Taru H et. al. (2002) Differential roles of JIP scaffold proteins in the modulation of amyloid precursor protein metabolism.

[^]
2.

Mooser V et. al. (1999) Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene.

[^]
3.

Yasuda J et. al. (1999) The JIP group of mitogen-activated protein kinase scaffold proteins.

[^]
4.

Waeber G et. al. (2000) The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes.

[^]
5.

Bonny C et. al. (2000) IB1 reduces cytokine-induced apoptosis of insulin-secreting cells.

[^]
6.

Thompson NA et. al. (2001) Islet-brain1/JNK-interacting protein-1 is required for early embryogenesis in mice.

[^]
7.

Whitmarsh AJ et. al. (2001) Requirement of the JIP1 scaffold protein for stress-induced JNK activation.

[^]
8.

Abderrahmani A et. al. (2001) The transcriptional repressor REST determines the cell-specific expression of the human MAPK8IP1 gene encoding IB1 (JIP-1).

[^]
9.

Jaeschke A et. al. (2004) An essential role of the JIP1 scaffold protein for JNK activation in adipose tissue.

[^]

 

 
Ihre Nachricht: