Sal-ähnliches Protein 1

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

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

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

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

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

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.

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

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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Orphanet article

NCBI article

OMIM.ORG article