Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SH2B-Adapter-Protein 1

Das SH2B1-Gen kodiert ein regulierendes Protein welches die Aktivität verschiedenener Kinase beeinflusst. Solche Beeinflussungen wurden insbesondere bei der intrazellulären Signaltransduktion des Wachstumshormons und der Regulation der Insulinsekretion gesehen.

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
Wachstumshormon-Unempfindlichkeit
Insulinähnlicher Wachtumsfaktor 1 Mangel
IGF1
Insulinähnlicher Wachtumsfaktor 1 Resistenz
IGF1R
Insulinähnlicher Wachtumsfaktor 1-Transportproteinmangel
IGFALS
Laron-Syndrom
GHR
SH2B1
Wachstumshormoninsensitivität mit Immundefizit
STAT5B

Referenzen:

1.

Nagase T et. al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

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2.

Rui L et. al. (1997) Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling.

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3.

Nelms K et. al. (1999) Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain.

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4.

Yousaf N et. al. (2001) Four PSM/SH2-B alternative splice variants and their differential roles in mitogenesis.

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5.

Kong M et. al. (2002) Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation.

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6.

Ohtsuka S et. al. (2002) SH2-B is required for both male and female reproduction.

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7.

Duan C et. al. (2004) Disruption of the SH2-B gene causes age-dependent insulin resistance and glucose intolerance.

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8.

Ren D et. al. (2007) Neuronal SH2B1 is essential for controlling energy and glucose homeostasis.

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9.

Carter-Su C et. al. (2016) Growth hormone signaling pathways.

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10.

Blandino-Rosano M et. al. (2016) 4E-BP2/SH2B1/IRS2 Are Part of a Novel Feedback Loop That Controls β-Cell Mass.

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11.

Lange LA et. al. (2016) Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study.

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12.

Delacrétaz A et. al. (2017) Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.

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