Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nukleärer Rezeptor Unterfamilie 0 Gruppe B Member 2

Das NR0B2-Gen kodiert einen nukleären Hormonrezeptor, dessen Ligand noch nicht bekannt ist. Mutationen führen zu autosomal dominanter, sich frühzeitig manifestierender Adipositas.

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:

Frühzeitig einsetzende Adipositas
NR0B2
POMC

Referenzen:

1.

Lu TT et. al. (2000) Molecular basis for feedback regulation of bile acid synthesis by nuclear receptors.

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2.

Goodwin B et. al. (2000) A regulatory cascade of the nuclear receptors FXR, SHP-1, and LRH-1 represses bile acid biosynthesis.

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3.

Seol W et. al. (1996) An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors.

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4.

Lee HK et. al. (1998) Structure and expression of the orphan nuclear receptor SHP gene.

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5.

Nishigori H et. al. (2001) Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

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6.

Kerr TA et. al. (2002) Loss of nuclear receptor SHP impairs but does not eliminate negative feedback regulation of bile acid synthesis.

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7.

Wang L et. al. (2002) Redundant pathways for negative feedback regulation of bile acid production.

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8.

Echwald SM et. al. (2004) Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

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9.

Iyer AK et. al. (2006) Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.

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10.

Iyer AK et. al. () LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.

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