Townes syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We propose a model for the pathogenesis of TBS in which truncated Sall1 protein causes derepression of Sall-responsive target genes.
|
18470945 |
2008 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
This region includes SALL1, which causes Townes-Brocks syndrome.
|
20003547 |
2009 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Taken together, they do not support the correlation of SALL1 deletions with a milder TBS phenotype and highlight a need for more robust clinical phenotyping combined with investigation of mutational mechanism.
|
22308078 |
2012 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here we present 12 novel mutations in SALL1 associated with Townes-Brocks syndrome in 13 unrelated families.
|
16088922 |
2005 |
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 |
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
|
19204018 |
2009 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SALL1 gene on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS).
|
12200128 |
2002 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Furthermore, the Hsal 1 gene product may play a part in the pathogenesis of specific neoplasms occurring in these organs in addition to its specific role in Townes-Brocks syndrome.
|
11511981 |
2001 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations of SALL1 on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS, OMIM 107480).
|
16443351 |
2006 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Townes syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Here we present 12 novel mutations in SALL1 associated with Townes-Brocks syndrome in 13 unrelated families.
|
16088922 |
2005 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SALL1 mutations in Townes-Brocks syndrome and related disorders.
|
11102974 |
2000 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
Here we present 12 novel mutations in SALL1 associated with Townes-Brocks syndrome in 13 unrelated families.
|
16088922 |
2005 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
We propose a model for the pathogenesis of TBS in which truncated Sall1 protein causes derepression of Sall-responsive target genes.
|
18470945 |
2008 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
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 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To date, 36 SALL1 mutations have been described in TBS patients.
|
17221874 |
2007 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
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 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In SALL1, a mutant allele causing Townes-Brocks syndrome was unexpectedly resistant to NMD, whereas a different mutation causing a much milder phenotype was susceptible to NMD.
|
18000979 |
2007 |
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 |
Biomarker
|
disease |
BEFREE |
We hypothesize that interactions of SHH and SALL1 explain the overlapping features of the family described here and patients with Townes-Brocks syndrome.
|
22903933 |
2012 |
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We present a case of TBS with a proven SALL1 mutation associated with unique ophthalmic features.
|
19005989 |
2008 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome).
|
16971658 |
2006 |
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 |
We traced the parental origin of SALL1 mutations in sporadic TBS by analysis of linkage between SALL1 mutations and exonic or intronic polymorphisms in 16 families with 10 different mutations.
|
16892410 |
2006 |
Townes syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
|
12915476 |
2003 |