|
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 |
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 |
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 |
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
|
19353631 |
2009 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SIX3 result in more severe HPE than in other cases of non-chromosomal, non-syndromic HPE.
|
19346217 |
2009 |
|
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 |
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 |
LHGDN |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
LHGDN |
First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.
|
15635066 |
2005 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
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
|
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 |
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 |
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 |
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 |
A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
|
11039582 |
2000 |
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Schizencephaly
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
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 |