Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Homeobox-Protein SIX2

Das SIX2-Gen kodiert einen Transkriptionsfaktor, der bei der ontogenese der Niere und des Innenohrs beteiligt ist.

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:

Branchio-Oto-Renale Dysplasie
Branchio-Oto-Renale Dysplasie 1
EYA1
Branchio-Oto-Renale Dysplasie 2
SIX5
SIX2
Townes-Brocks-Branchio-Oto-Renales Syndrome
SALL1

Referenzen:

1.

Oliver G et. al. (1995) Homeobox genes and connective tissue patterning.

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2.

Boucher CA et. al. (2000) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2.

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3.

Mao Z et. al. (2017) TβRII Regulates the Proliferation of Metanephric Mesenchyme Cells through Six2 In Vitro.

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4.

Chung E et. al. (2016) Notch signaling promotes nephrogenesis by downregulating Six2.

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5.

Liu J et. al. (2016) Six2 Is a Coordinator of LiCl-Induced Cell Proliferation and Apoptosis.

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6.

Guan J et. al. (2016) SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.

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7.

None () Correction: Postembryonic Nephrogenesis and Persistence of Six2-Expressing Nephron Progenitor Cells in the Reptilian Kidney.

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