Phospholipase C, epsilon-1
Das Gen PLCE1 kodiert eine Phospholipase. Mutationen sind für das autosomal rezessive kongenitale nephrotische Syndrom 3 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
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2. |
Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.
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3. |
Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray.
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4. |
Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS.
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5. |
Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.
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6. |
Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
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7. |
None (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome.
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8. |
Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
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9. |
NCBI article
NCBI 51196
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10. |
OMIM.ORG article
Omim 608414
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11. |
Orphanet article
Orphanet ID 159233
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Update: 14. August 2020