|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the present study we performed mutational analysis of the entire coding region of the SHH gene in 37 unrelated individuals with the HPE spectrum.
|
19398181 |
2010 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Here, we analyze seven reported missense mutations (G31R, D88V, Q100H, N115K, W117G, W117R, and E188Q) that alter the N-terminal signaling domain of Shh protein, and show that two of these mutations (Q100H and E188Q), which are questionably linked to HPE, produce no detectable effects on function.
|
16282375 |
2005 |
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
|
12032320 |
2002 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
|
19603532 |
2009 |
|
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 |
Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE.
|
22383895 |
2012 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed mutational analysis in the four main HPE causing genes (SHH, SIX3, TGIF, and ZIC2) and GLI3, a gene associated with polydactyly as well as fluorescent in situ hybridization (FISH) to search for microdeletions in these genes and two candidate HPE genes (DISP1 and FOXA2).
|
18178536 |
2008 |
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
CTD_human |
The inhibitors of the NODAL and SHH pathways, even at low concentration, acted synergistically to promote an HPE-like phenotype.
|
23264560 |
2013 |
|
Holoprosencephaly
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We considered LS an excellent candidate HPE gene because of the requirement for cholesterol modification of the Sonic Hedgehog protein for the correct patterning activity of this HPE-associated protein.
|
10598817 |
1999 |
|
Holoprosencephaly
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
We identified a de novo nucleotide change, c.301-19G > A, in intron 1 of SHH in a four year old boy with a microform of holoprosencephaly.
|
21044704 |
2011 |
|
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 |
BEFREE |
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
|
20531442 |
2010 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report here that whereas mice lacking the Cdo paralog Boc do not have HPE, Cdo;Boc double mutants on a largely Cdo-resistant genetic background have lobar HPE with strong craniofacial anomalies and defects in Shh target gene expression in the developing forebrain.
|
21183473 |
2011 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SHH gene are the most common cause of sporadic and inherited holoprosencephaly (HPE), a developmental disorder that is characterized by defective prosencephalon development.
|
19057928 |
2009 |
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
The genetic causes of HPE have recently begun to be identified, and we have previously shown that HPE can be caused by haploinsufficiency for SONIC HEDGEHOG ( SHH).
|
11941477 |
2002 |
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the four main genes involved in HPE (SHH, ZIC2, SIX3, TGIF) were identified in 25% of cases.
|
21940735 |
2011 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively.
|
27614115 |
2016 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Numerous genetic loci and environmental factors are implicated in HPE, but mutation in the sonic hedgehog (Shh) gene is an established cause in both humans and mice.
|
17525797 |
2007 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
We demonstrate that two SHH mutations that cause human HPE result in decreased in vivo activity of SHH in the developing nervous system.
|
12709790 |
2003 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
|
15292211 |
2004 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that in a subset of patients SCH may develop as one aspect of a more complex malformation of the ventral forebrain, directly result from mutations in the SHH pathway and hence be considered as yet another feature of the broad phenotypic spectrum of holoprosencephaly.
|
20157829 |
2010 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that mutations of a gene in 7q36, designated HPE3, are responsible for both sporadic HPE and a majority of families with autosomal dominant HPE.
|
8058764 |
1994 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment.
|
16752381 |
2006 |