Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Suppressor SUFU

Das SUFU-Gen kodiert ein Protein des Hedgehog-Signalwegs. Mutationen führen zu Medulloblastomem. Auch sind hyopmorphe Mutationen bei Joubert-Syndrom beschrieben.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Joubert-Syndrom
Joubert-Syndrom 3
AHI1
Joubert-Syndrom 6
TMEM67
Joubert-Syndrom 7
RPGRIP1L
Joubert-Syndrom 9
CC2D2A
Joubert-Syndroms 11
TTC21B
Joubert-Syndroms 19
ZNF423
SUFU

Referenzen:

1.

Kogerman P et. al. (1999) Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1.

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2.

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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3.

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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4.

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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5.

Taylor MD et. al. (2002) Mutations in SUFU predispose to medulloblastoma.

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6.

Varjosalo M et. al. (2006) Divergence of hedgehog signal transduction mechanism between Drosophila and mammals.

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7.

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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8.

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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9.

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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10.

Pastorino L et. al. (2009) Identification of a SUFU germline mutation in a family with Gorlin syndrome.

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11.

Brugières L et. al. (2010) Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.

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12.

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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13.

Aavikko M et. al. (2012) Loss of SUFU function in familial multiple meningioma.

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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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