Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Sal-ähnliches Protein 1

Das SALL1-Gen kodiert einen Transkriptionsfaktor. Mutationen sind für das autosomal dominante Townes-Brocks-Syndrome 1 und eine Branchio-Oto-Renale Dysplasie-ähnliche Erkrankung verantwortlich.

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:

Townes-Brocks-Branchio-Oto-Renales Syndrome
SALL1
Townes-Brocks-Syndrome 1
SALL1

Referenzen:

1.

Chai L et. al. (2006) Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.

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2.

Gabrielli O et. al. (1993) Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

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3.

Serville F et. al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16).

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4.

Kohlhase J et. al. (1996) Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.

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5.

Kohlhase J et. al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

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6.

Kohlhase J et. al. (1999) Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

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7.

Marlin S et. al. (1999) Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

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8.

Engels S et. al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.

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9.

Buck A et. al. (2000) Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1.

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10.

None (2000) SALL1 mutations in Townes-Brocks syndrome and related disorders.

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11.

Keegan CE et. al. () Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.

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12.

Surka WS et. al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

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13.

Nishinakamura R et. al. (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development.

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14.

Netzer C et. al. (2001) SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.

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15.

Kiefer SM et. al. (2003) Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.

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16.

Dong PD et. al. (2003) Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.

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17.

Albrecht B et. al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.

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18.

Botzenhart EM et. al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

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19.

Böhm J et. al. (2006) SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.

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20.

Kosaki R et. al. (2007) Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

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21.

Furniss D et. al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.

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22.

Kiefer SM et. al. (2008) SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.

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