Townes syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor.
|
11484202 |
2001 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SALL1 mutations in Townes-Brocks syndrome and related disorders.
|
11102974 |
2000 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Finally, the chromosome 16 breakpoint of a t(5;16)(p15.3;q12.1) translocation carried by a TBS-affected individual was mapped at least 180 kb telomeric to SALL1, thus indicating that a position effect underlies the disease in this individual.
|
10533063 |
1999 |
Townes syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
|
9973281 |
1999 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This suggests that only SALL1 mutations that remove the DZF domains result in TBS.
|
9973281 |
1999 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
SALL1 has recently been found to be mutated in patients with Townes-Brocks syndrome (TBS, OMIM No.107480).
|
10343095 |
1999 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
|
9425907 |
1998 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
|
9425907 |
1998 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
TOWNES-BROCKS SYNDROME 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
TOWNES-BROCKS SYNDROME 1
|
0.600 |
Biomarker
|
disease |
MGD |
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.
|
18470945 |
2008 |
TOWNES-BROCKS SYNDROME 1
|
0.600 |
Biomarker
|
disease |
MGD |
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
|
12915476 |
2003 |
TOWNES-BROCKS SYNDROME 1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
|
14627694 |
2003 |
TOWNES-BROCKS SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
|
10533063 |
1999 |
TOWNES-BROCKS SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
|
9973281 |
1999 |
TOWNES-BROCKS SYNDROME 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Congenital small ears
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
|
9973281 |
1999 |
Congenital small ears
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital Abnormality
|
0.350 |
AlteredExpression
|
group |
BEFREE |
Extinguished SALL1 expression and marked dysgenesis of nephron structures were observed in the rudimentary kidney tissue of SALL1-KO foetuses.
|
31142767 |
2019 |
Congenital Abnormality
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1.
|
23894113 |
2013 |
Congenital Abnormality
|
0.350 |
Biomarker
|
group |
BEFREE |
Human SALL1 is a homologue of the Drosophila region-specific homeotic gene sal, and is also known as a causative gene for Townes-Brocks syndrome, which is characterized by multi-organ malformations.
|
20053786 |
2010 |
Congenital Abnormality
|
0.350 |
Biomarker
|
group |
CTD_human |
Sall1 is expressed in the metanephric mesenchyme in the developing kidney, and mice deficient in Sall1 show kidney agenesis or dysgenesis.
|
20127799 |
2010 |
Congenital Abnormality
|
0.350 |
GeneticVariation
|
group |
BEFREE |
Mutations in SALL1 lead to the dominant multiorgan congenital anomalies that define Townes-Brocks syndrome (TBS).
|
18470945 |
2008 |
Congenital Abnormality
|
0.350 |
Biomarker
|
group |
BEFREE |
The SALL1 gene has been associated with the Townes-Brocks Syndrome (TBS), a disorder characterized by multiorgan dysgenesis including renal and genital malformations.
|
12065233 |
2002 |
Limb Deformities, Congenital
|
0.310 |
GeneticVariation
|
group |
BEFREE |
We identified truncating mutations in SALL1 and GLI3 in patients with limb malformation and studied the contribution of nonsense-mediated decay (NMD) to the expression of mutant mRNA in patient-derived fibroblasts.
|
18000979 |
2007 |