Suppressor SUFU
Das SUFU-Gen kodiert ein Protein des Hedgehog-Signalwegs. Mutationen führen zu Medulloblastomem. Auch sind hyopmorphe Mutationen bei Joubert-Syndrom 32 beschrieben.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kogerman P et al. (1999) Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1.
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2. |
Aavikko M et al. (2012) Loss of SUFU function in familial multiple meningioma.
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3. |
Pospisilik JA et al. (2010) Drosophila genome-wide obesity screen reveals hedgehog as a determinant of brown versus white adipose cell fate.
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4. |
Brugières L et al. (2010) Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.
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5. |
Pastorino L et al. (2009) Identification of a SUFU germline mutation in a family with Gorlin syndrome.
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6. |
Lee DY et al. (2007) MicroRNA-378 promotes cell survival, tumor growth, and angiogenesis by targeting SuFu and Fus-1 expression.
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7. |
Lyle R et al. (2006) Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.
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8. |
Svärd J et al. (2006) Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway.
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9. |
Varjosalo M et al. (2006) Divergence of hedgehog signal transduction mechanism between Drosophila and mammals.
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10. |
Taylor MD et al. (2002) Mutations in SUFU predispose to medulloblastoma.
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11. |
Grimm T et al. (2001) Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.
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12. |
Bayani J et al. (2000) Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping.
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13. |
Stone DM et al. (1999) Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli.
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14. |
De Mori R et al. (2017) Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
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15. |
NCBI article
NCBI 51684
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16. |
OMIM.ORG article
Omim 607035
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17. |
Orphanet article
Orphanet ID 119896
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Update: 14. August 2020