Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Semaphorin-3E

Das SEMA3E-Gen kodiert ein Semaphorin, ein extrazellulares Protein, welches unter anderem für das Axonwachstum verantwortlich zu sein scheint. Mutationen führen wahrscheinlich zu einem autosomal dominanten CHARGE-Syndrom.

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:

CHARGE-Syndrom
CHD7
TBX18

Referenzen:

1.

Nagase T et. al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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2.

Christensen CR et. al. (1998) Transcription of a novel mouse semaphorin gene, M-semaH, correlates with the metastatic ability of mouse tumor cell lines.

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3.

Martin DM et. al. (2001) CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

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4.

Lalani SR et. al. (2004) SEMA3E mutation in a patient with CHARGE syndrome.

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5.

Gu C et. al. (2005) Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.

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6.

Pecho-Vrieseling E et. al. (2009) Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.

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7.

Cariboni A et. al. (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

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