Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SEMA3E gene encodes a semaphorin which are extracellular proteins with regulatory functions such as axonal growth. Mutations probably cause autosomal dominant CHARGE syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 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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