HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
|
21976454 |
2011 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
|
20531442 |
2010 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
|
18791198 |
2008 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
|
18791198 |
2008 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
MGD |
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
|
18694563 |
2008 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
SIX3 mutations with holoprosencephaly.
|
17001667 |
2006 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
|
15523651 |
2004 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
|
15221788 |
2004 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
MGD |
Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development.
|
12569128 |
2003 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
BEFREE |
Large heterozygous deletions associated with human holoprosencephaly type 2 have been previously mapped to 2p21, opening the possibility that SIX3 could be involved in the development of midline structures of the head.
|
10415461 |
1999 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
|
10369266 |
1999 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
|
10369266 |
1999 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
AlteredExpression
|
disease |
BEFREE |
However, embryonic SIX3 expression is not limited to the eye field, and SIX3 has been found to be mutated in some patients with holoprosencephaly type 2 (HPE2), suggesting that SIX3 has wide implications in head development.
|
10512683 |
1999 |
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
CTD_human |
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
HOLOPROSENCEPHALY 2 (disorder)
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE.
|
28670735 |
2018 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
In humans, SIX3 haploinsufficiency results in holoprosencephaly, a defect in anterior midline formation.
|
28093895 |
2017 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings show that variations in Six3 dosage result in different forms of HPE.
|
27770010 |
2016 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SHH mutations more commonly resulted in non-HPE (64%) than frank HPE (36%), and non-HPE was significantly more common in patients with SHH than in those with mutations in the other common HPE related genes (p<0.0001 compared to ZIC2 or SIX3).
|
22791840 |
2012 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations.
|
21995818 |
2012 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These functions are very likely conserved among bilaterians since vertebrate six3 is required for neuroendocrine and median brain development with certain mutations leading to holoprosencephaly.
|
22216011 |
2011 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most severe HPE types were associated with SIX3 and ZIC2 mutations, whereas microforms were associated with SHH mutations.
|
21940735 |
2011 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frank holoprosencephaly was present in 11 individuals with deletions of one of the common HPE genes SHH, ZIC2, SIX3, and TGIF1, in one individual with a deletion of the HPE8 locus at 14q13, and in one individual with a deletion of FGF8, whereas deletions of other HPE loci and candidate genes (FOXA2 and LRP2) expressed microforms of HPE.
|
20066439 |
2010 |