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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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. |
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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3. |
Lalani SR et al. (2004) SEMA3E mutation in a patient with CHARGE syndrome.
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4. |
Cariboni A et al. (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.
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5. |
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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6. |
Gu C et al. (2005) Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.
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7. |
Pecho-Vrieseling E et al. (2009) Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.
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8. |
Orphanet article
Orphanet ID 118590
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9. |
NCBI article
NCBI 9723
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10. |
OMIM.ORG article
Omim 608166
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Update: 14. August 2020