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 |
Biomarker
|
disease |
BEFREE |
Our data indicate that SIX3 is a frequent target in the pathogenesis of HPE and demonstrate how this can inform the genetic counseling of families.
|
18791198 |
2008 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We studied two genes, Sonic Hedgehog (SHH) and SIX3, in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum.
|
11471164 |
2001 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results demonstrate physical and functional association between EYA4 and SIX3, suggesting that EYA4 is a novel candidate gene of HPE, whose haploinsufficiency leads to HPE through the compromised function of SIX3.
|
19606496 |
2009 |
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 |
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 |
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 |
Holoprosencephaly (HPE) is genetically heterogeneous with four genes, SIX3, SHH, TGIF, and ZIC2 that have been identified to date and that are altered in 12% of patients.
|
11479728 |
2001 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g., SHH, ZIC2 and SIX3).
|
20104604 |
2010 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
These data suggest a direct link between Six3 and Shh regulation during normal forebrain development and in the pathogenesis of HPE.
|
18836447 |
2008 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
To identify whether any mutations of candidate genes including SHH, ZIC2, SIX3, and TGIF exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease.
|
16475235 |
2006 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
These YACs narrow the HPE2 critical region to less than 1 Mb and are now being further analyzed to identify the gene causing holoprosencephaly on chromosome 2.
|
8824878 |
1996 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
|
19353631 |
2009 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our cases suggest that SIX3 mutations result in a more severe phenotype than other gene mutations for holoprosencephaly.
|
17001667 |
2006 |
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 |
Using samples from a population-based birth defects registry in California, we performed a mutational analysis of the known HPE genes Sonic Hedgehog (SHH), ZIC2, and SIX3, in addition to two HPE candidate genes, TG-interacting factor (TGIF), and Patched (PTC), on a group of sporadic HPE patients.
|
10710230 |
2000 |
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 |
Mutational analysis has identified four different mutations in the homeodomain of SIX3 that are predicted to interfere with transcriptional activation and are associated with HPE.
|
10369266 |
1999 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We therefore considered holoprosencephaly (HPE)-associated genes as potential SCH candidates and report for the first time heterozygous mutations in SIX3 and SHH in a total of three unrelated patients and one fetus with SCH; one of them without obvious associated malformations of midline forebrain structures.
|
20157829 |
2010 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
|
15523651 |
2004 |
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
|
11039582 |
2000 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report 22 patients with normal neuropsychological development and a holoprosencephaly-like (HPE-like) phenotype screened for SHH, SIX3, TGIF, and GLI2.
|
17001669 |
2006 |
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 |
A missense mutation c.686C>T was found in the gene SIX3 of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases.
|
17584896 |
2007 |
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two families showed inherited deletions that contain SIX3 and were incompletely penetrant for HPE.
|
28670735 |
2018 |