|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
TBX3 is required for normal mammary development in mouse models and in patients with ulnar-mammary syndrome (UMS).
|
15300007 |
2004 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of TBX3 cause ulnar-mammary syndrome (MIM 181450) in humans, an autosomal dominant disorder characterized by the absence or underdevelopment of the mammary glands and other congenital anomalies.
|
15289316 |
2004 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.
|
12668638 |
2003 |
|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism.
|
12668170 |
2003 |
|
Ulnar-mammary syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism.
|
12668170 |
2003 |
|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome.
|
12668638 |
2003 |
|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that ulnar-mammary syndrome shows a wide range of phenotypes even within the same family and provide further evidence that haploinsufficiency of TBX3 is the disease-causing mechanism.
|
12668170 |
2003 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have also shown here that point mutants of TBX-3, which are found in Ulnar-Mammary Syndrome, have lost the ability to inhibit senescence and fail to repress mouse p19(ARF) and human p14(ARF) expression.
|
11748239 |
2002 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The crystal structure of the T-box domain of the first human T-box transcription factor, TBX3, in complex with DNA at 1.7 A resolution explains structural consequences of T-box domain point mutations observed in UMS and HOS patients.
|
12005433 |
2002 |
|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3, and imply that mild gonadotropin deficiency may be the primary cause for underdeveloped external genitalia in males with UMS.
|
12116211 |
2002 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several disease-implicated regulators of p19(ARF) are known to date, among which are the T-box genes TBX2, which resides on an amplicon in primary breast tumors, and TBX3, which is mutated in the human developmental disorder Ulnar-Mammary syndrome.
|
12000749 |
2002 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
UMS-causing mutations in Tbx3 have been found at numerous sites within the TBX3 gene, with many occurring downstream from the N-terminally located T-domain.
|
11689487 |
2001 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS.
|
10330342 |
1999 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS.
|
10330342 |
1999 |
|
Ulnar-mammary syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
However, the 3' terminus of the open reading frame (ORF) of TBX3 was not identified, and mutations were detected in only two families with UMS.
|
10330342 |
1999 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two familial diseases, Holt-Oram syndrome and ulnar-mammary syndrome, were recently shown to be caused by mutations in the human T-box genes TBX5 and TBX3, respectively.
|
9611267 |
1998 |
|
Ulnar-mammary syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families.
|
9207801 |
1997 |
|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families.
|
9207801 |
1997 |
|
Ulnar-mammary syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Ulnar-mammary syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Malignant neoplasm of breast
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Assessing TBX3 by immunohistochemistry in early-stage (stage 0 and stage I) breast cancers revealed high expression in low-grade lesions.
|
30697731 |
2019 |
|
Malignant neoplasm of breast
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
TBX3 was associated with BC risk (rs2242442: OR = 0.76, 95% CI 0.64-0.92, dominant model) and with less aggressive tumour characteristics.
|
28238063 |
2017 |
|
Malignant neoplasm of breast
|
0.600 |
Biomarker
|
disease |
BEFREE |
In contrast, constitutive (MYC, TBX3) and signal-induced (TP53, FOXA1) DB-TFs that do not mediate default repression are directly altered in breast cancer.
|
28215225 |
2017 |
|
Breast Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
TBX3 was associated with BC risk (rs2242442: OR = 0.76, 95% CI 0.64-0.92, dominant model) and with less aggressive tumour characteristics.
|
28238063 |
2017 |
|
Breast Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
NBCs less frequently harboured PIK3CA mutations than common forms of ER<sup>+</sup> /HER2<sup>-</sup> , luminal A and invasive lobular carcinomas (p < 0.05), and showed a significantly higher frequency of somatic mutations affecting ARID1A (17% versus 2%, p < 0.05) and the transcription factor-encoding genes FOXA1 (17% versus 2%, p = 0.01) and TBX3 (17% versus 3%, p < 0.05) than common-type ER<sup>+</sup> /HER2<sup>-</sup> breast carcinomas.
|
27925203 |
2017 |