Sal-like protein 1
The SALL1 gene encodes a transcription factor. Mutations cause autosomal dominant Townes-Brocks-Syndrome 1 and Townes-Brocks branchiootorenal-like syndrome.
Genetests:
Related Diseases:
References:
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Serville F et al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16).
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Kiefer SM et al. (2008) SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.
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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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Dong PD et al. (2003) Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.
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Kiefer SM et al. (2003) Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
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6. |
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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Nishinakamura R et al. (2001) Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development.
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8. |
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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None (2000) SALL1 mutations in Townes-Brocks syndrome and related disorders.
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Buck A et al. (2000) Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1.
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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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Kohlhase J et al. (1999) Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
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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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Gabrielli O et al. (1993) Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?
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15. |
Furniss D et al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
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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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Botzenhart EM et al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
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Albrecht B et al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
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Surka WS et al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
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20. |
Engels S et al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.
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21. |
Kohlhase J et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
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Chai L et al. (2006) Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.
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23. |
Orphanet article
Orphanet ID 118451
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NCBI article
NCBI 6299
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OMIM.ORG article
Omim 602218
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26. |
Wikipedia article
Wikipedia EN (SALL1)
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Update: Aug. 14, 2020