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 |
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 |
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 |
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 |
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 |
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 |
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Alpha 4 is a regulatory subunit of the major cellular phosphatase, PP2A, that has recently been shown to interact with MID1, the product of the gene mutated in X-linked Opitz GBBB syndrome.
|
14556245 |
2003 |
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The MID1 gene on Xp22 is also a member of the RING-B30 family and is mutated in Opitz syndrome (OS).
|
10508838 |
1999 |
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MID1 gene have been associated with the X-linked form of Opitz Syndrome, a developmental disorder characterized by midline defects and intellectual disability.
|
28760657 |
2017 |
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in analogous loop regions of pyrin and midline-1 SPRY domains have been shown to cause Mediterranean fever and Opitz syndrome, respectively.
|
16369487 |
2006 |
Opitz GBBB Syndrome, X-Linked
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We find from a literature review that missense mutations within the FNIII domain of MID1 are associated with a milder presentation of OS than missense mutations elsewhere in MID1.
|
16378742 |
2006 |
Opitz GBBB Syndrome, X-Linked
|
0.900 |
Biomarker
|
disease |
BEFREE |
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-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Using RNA diagnostics we have now identified a duplication of the MID1 first exon in a patient with X-linked Opitz G/BBB syndrome.
|
12545276 |
2003 |
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a patient with Opitz G/BBB syndrome and a unique MID1 gene point mutation c.1703T<C (p. Ile568Thr) in exon 10.
|
22407675 |
2012 |