|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.
|
18172692 |
2008 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
|
9718340 |
1998 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
MGD |
Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis.
|
20181585 |
2010 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1.
|
12408967 |
2002 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Mid1 expression in undifferentiated cells in the central nervous, gastrointestinal and urogenital systems suggests that abnormal cell proliferation may underlie the defect in midline development characteristic of Opitz syndrome.
|
9467009 |
1998 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Alternative polyadenylation signals and promoters act in concert to control tissue-specific expression of the Opitz Syndrome gene MID1.
|
18005432 |
2007 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Three genes were selected for this investigation: TP63, which codes for the tumour protein p63 and causes Ectrodactyly-Ectodermal dysplasia-orofacial Cleft syndrome; JAG2, a downstream gene of TP63; and MID1, which is responsible for Opitz syndrome.
|
19049519 |
2008 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MADD-2 is a C1-TRIM protein and a homolog of human MID1, mutations in which cause Opitz Syndrome.
|
20627078 |
2010 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genotype and phenotype was compared for these 10 families, clinically diagnosed OS patients found not to have MID1 mutations, and 4 families in whom we have previously reported MID1 mutations.
|
15558842 |
2005 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
BEFREE |
FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules.
|
10644436 |
1999 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
CLINGEN |
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
|
17221865 |
2007 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The association of MID1 with OS suggests an important role for this gene in midline development.
|
9354791 |
1997 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual.
|
12833403 |
2003 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
As more than 85% of Opitz G/BBB syndrome (OS) patients with MID1 mutations are manifested with hypospadias, we have investigated the association between the MID1 gene and hypospadias.
|
21326312 |
2011 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome.
|
28548391 |
2017 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
BEFREE |
The association of MID1 with OS suggests an important role for this gene in midline development.
|
9354791 |
1997 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.
|
10400986 |
1999 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Mid1 gene are responsible for X-linked Opitz syndrome, characterized by midline defects of the brain, face, heart, and trachea.
|
12203739 |
2002 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.
|
11685209 |
2001 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
BEFREE |
The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node.
|
12798296 |
2003 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
BEFREE |
In spite of these findings, the biological role exerted by the Opitz syndrome gene product is still unclear and the presence of other potential interacting moieties in the Mid1 structure prompted us to search for additional cellular partners.
|
15070402 |
2004 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
In addition, our detailed mutational analysis of MID1 in a cohort of 15 patients with OS has resulted in the identification of seven novel mutations, two of which disrupt the N-terminus of the protein.
|
11030761 |
2000 |
|
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
BEFREE |
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.
|
11806752 |
2002 |