Laminin-Untereinheit alpha-5
Das LAMA5-gen kodiert eine Untereinheit des Laminins, einem wichtigen Bestandteil der Basalmembranen. Mutationen sind im Zusammenhang mit der FSGS beschrieben.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Ma GC et. al. (2008) A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy.
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| 2. |
Secolin R et. al. (2013) Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorder.
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| 3. |
Miner JH et. al. (1995) Molecular cloning of a novel laminin chain, alpha 5, and widespread expression in adult mouse tissues.
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| 4. |
Durkin ME et. al. (1997) Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation.
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| 5. |
Nagase T et. al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| 6. |
Nagase T et. al. (2001) Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
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| 7. |
Li J et. al. (2003) Laminin-10 is crucial for hair morphogenesis.
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| 8. |
Gao J et. al. (2008) Laminin-511 is an epithelial message promoting dermal papilla development and function during early hair morphogenesis.
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| 9. |
Wu C et. al. (2009) Endothelial basement membrane laminin alpha5 selectively inhibits T lymphocyte extravasation into the brain.
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Update: 26. September 2018
