Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Neurotrophin-4

Das NTF4-Gen kodiert ein Protein, welches bei der Differenzierung und dem Überleben von Neuronen beteiligt ist. Mutationen sind für das autosomal dominante Glaukom 1O verantwortlich.

Diagnostik:

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

Krankheiten:

Weitwinkelglaukom 1O
NTF4

Referenzen:

1.

Ip NY et. al. (1992) Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity.

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2.

Berkemeier LR et. al. (1992) Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins.

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3.

None (1996) Neurotrophin-4: the odd one out in the neurotrophin family.

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4.

Xie CW et. al. (2000) Deficient long-term memory and long-lasting long-term potentiation in mice with a targeted deletion of neurotrophin-4 gene.

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5.

Robinson LL et. al. (2003) The human fetal testis is a site of expression of neurotrophins and their receptors: regulation of the germ cell and peritubular cell population.

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6.

Deppmann CD et. al. (2008) A model for neuronal competition during development.

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7.

Pasutto F et. al. (2009) Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.

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8.

Liu Y et. al. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.

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