|
Holoprosencephaly
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.
|
7550324 |
1995 |
|
Holoprosencephaly
|
0.700 |
Biomarker
|
disease |
BEFREE |
These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possible, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems.
|
8989473 |
1996 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our localization of the human gene places it in the region where the locus for the craniofacial defect holoprosencephaly type 3 (HPE3) maps.
|
8938447 |
1996 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the identification of human Sonic Hedgehog (SHH) as HPE3-the first known gene to cause HPE.
|
8896572 |
1996 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As a step toward identifying one of the HPE genes, we have set out to refine the HPE3 critical region on human chromosome 7q36 by analyzing 34 cell lines from families with cytogenetic abnormalities involving 7q, 24 of which are associated with HPE.
|
9254845 |
1997 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans.
|
9728329 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies.
|
10556296 |
1999 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis confirmed hemizygosity for the SHH and HLXB9 genes, which are likely to be responsible for the HPE and sacral phenotypes, respectively.
|
10852374 |
2000 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated the molecular basis of holoprosencephaly in a sporadic patient and identified a novel missense mutation in the signal sequence of the sonic hedgehog (Shh) gene.
|
10762164 |
2000 |
|
Holoprosencephaly
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
|
11479728 |
2001 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Different genes are implicated in the pathogenesis of HPE; these include SHH, ZIC2, SIX3, TGIF, and human DKK1.
|
12567406 |
2003 |
|
Holoprosencephaly
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
|
15107988 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
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 |