|
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we provide evidence that SALL1 mutations might cause TBS by means beyond its transcriptional capacity.
|
29395072 |
2018 |
|
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report on two unrelated patients with Townes-Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities.
|
23894113 |
2013 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
This region includes SALL1, which causes Townes-Brocks syndrome.
|
20003547 |
2009 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SALL1, a gene mapping to chromosome 16q21.1, are responsible for TBS.
|
18280297 |
2008 |
|
Townes syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To date, 36 SALL1 mutations have been described in TBS patients.
|
17221874 |
2007 |
|
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 |
Mutations of SALL1 on chromosome 16q12.1 cause Townes-Brocks syndrome (TBS, OMIM 107480).
|
16443351 |
2006 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We applied quantitative real time PCR to detect and map SALL1 deletions in 240 patients with the clinical diagnosis of TBS, who were negative for SALL1 mutations.Deletions were found in three families.
|
16429401 |
2006 |
|
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 |
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 |
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 |
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
|
12915476 |
2003 |
|
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 |
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 |
Sequencing of SALL1, the gene mutated in TBS, in four of the eight patients revealed one with a C --> T transition (resulting in a nonsense mutation R276X) at a previously identified mutational "hot spot."
|
11478532 |
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 |