|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a heterozygous GATA3 whole gene deletion causing HDR syndrome in a Sri Lankan family.
|
31660939 |
2019 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Loss of gata3 in inner hair cells causes progressive hearing loss and accounts for at least some of the deafness associated with the human hypoparathyroidism, deafness and renal anomaly (HDR) syndrome.
|
31069810 |
2019 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of gata3 in inner hair cells causes progressive hearing loss and accounts for at least some of the deafness associated with the human hypoparathyroidism, deafness and renal anomaly (HDR) syndrome.
|
31069810 |
2019 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood.
|
30396722 |
2019 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GATA3 mutations occur in up to 15% of estrogen receptor (ER)-positive breast tumors and have been proposed to be null alleles resulting in haploinsufficiency; however, the mutation spectrum of GATA3 in breast cancer is in sharp contrast to that found in HDR syndrome, a true GATA3 haploinsufficiency disease.
|
30061207 |
2018 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
|
30218523 |
2018 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
|
29073906 |
2017 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder, secondary to mutations in the GATA-3 gene.
|
27387476 |
2017 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-genome sequencing identified novel mutations in GATA3, which causes HDR syndrome (hypoparathyroidism and deafness), and STS, which causes X -linked congenital ichthyosis.
|
26731259 |
2016 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We provide further evidence that HDR syndrome is caused by haploinsufficiency of GATA3.
|
26268891 |
2015 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition, the ubiquitous transcription factor SP1 also interacted with Gata3 as well as MafB and Gcm2, and HDR syndrome-associated Gata3 mutants were defective in activating the PTH promoter.
|
25917456 |
2015 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, the presence of triad of HDR syndrome was considered, and genetic analysis using a next-generation sequencer identified a novel de novo missense mutation in exon 4 p.R276Q (c.827G>A) of GATA3 gene.
|
26777049 |
2015 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The GATA3 haploinsufficiency is thought to be associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome.
|
25771973 |
2015 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
In addition, the ubiquitous transcription factor SP1 also interacted with Gata3 as well as MafB and Gcm2, and HDR syndrome-associated Gata3 mutants were defective in activating the PTH promoter.
|
25917456 |
2015 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome.
|
26514990 |
2015 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We identified a novel R299Q mutation in GATA3 in a Japanese family with HDR syndrome.
|
26514990 |
2015 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
|
26316437 |
2015 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15.
|
25510779 |
2015 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The GATA3 haploinsufficiency is thought to be associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome.
|
25771973 |
2015 |
|
Barakat syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency.
|
23757620 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HDR syndrome is a heterogeneous syndrome most commonly associated with GATA3 haploinsufficiency.
|
23757620 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
|
25124981 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.
|
24434941 |
2014 |
|
Barakat syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification.
|
23186964 |
2013 |
|
Barakat syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because mutation of the homologous cysteine causes HDR in humans, these zebrafish mutants could be a quick and effective animal model for understanding the role of gata3 in the HDR disease spectrum.
|
23720234 |
2013 |