|
Opitz-G syndrome, type 2
|
0.300 |
Biomarker
|
disease |
BEFREE |
MID1 is an E3 ubiquitin ligase that was first found in Opitz G/BBB syndrome, but there has been little research into its role in lung diseases.
|
29450633 |
2018 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The P151L mutation in the B-box1 domain of MID1 causes midline defects in X-linked Opitz G Syndrome.
|
28714291 |
2017 |
|
Opitz-G syndrome, type 2
|
0.300 |
Biomarker
|
disease |
BEFREE |
In this review we will summarize the current knowledge about MID1, its involvement in the pathogenesis of OS and other diseases and possible strategies for therapy development.
|
26709798 |
2016 |
|
Opitz-G syndrome, type 2
|
0.300 |
Biomarker
|
disease |
BEFREE |
In this study, we performed whole exome sequencing on DNA samples from a three-generation family with characteristics of Opitz G/BBB syndrome with negative MID1 sequencing.
|
25412741 |
2015 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
This deletion included the 3' UTR region of the MID1 gene predicted to cause the X-linked Opitz G/BBB syndrome.
|
24863803 |
2014 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome.
|
24374473 |
2014 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The mild phenotype of the patient with the microduplication suggests that MID1 mutations can be found in patients with hypertelorism with or without other clinical signs and MID1 alterations might be missed in individuals not fulfilling the minimal criteria for diagnosis of X-linked Opitz G/BBB syndrome.
|
23354372 |
2013 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe 12 novel patients that carry MID1 mutations emphasizing that laryngo-tracheo-esophageal defects are very common in OS patients and, together with hypertelorism and hypospadias, are the most frequent findings among the full spectrum of OS clinical manifestations.
|
23791568 |
2013 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human Mid1 gene cause Opitz G/BBB syndrome, which is characterized by various midline closure defects.
|
23201576 |
2013 |
|
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 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Our finding suggests that hypospadias associated with hypertelorism is the mildest phenotype in OS caused by MID1 mutations.
|
21326312 |
2011 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We have shown previously that the ubiquitin ligase MID1, mutations of which cause the midline malformation Opitz BBB/G syndrome (OS), serves as scaffold for a microtubule-associated protein complex that regulates protein phosphatase 2A (PP2A) activity in a ubiquitin-dependent manner.
|
21930711 |
2011 |
|
Opitz-G syndrome, type 2
|
0.300 |
Biomarker
|
disease |
BEFREE |
Here, we show that neural tube closure in Xenopus depends on orthologs of two proteins: MID1, which is responsible for Opitz G/BBB syndrome in humans, and its paralog MID2.
|
20534674 |
2010 |
|
Opitz-G syndrome, type 2
|
0.300 |
Biomarker
|
disease |
MGD |
Male patients with the X-linked form of OS, caused by loss-of-function mutations in the MID1 gene, show high variability of the clinical signs.
|
20181585 |
2010 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay.
|
18074389 |
2008 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
|
18360914 |
2008 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
|
18697196 |
2008 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked MID1 gene are responsible for Opitz G/BBB syndrome, a malformation disorder of developing midline structures.
|
18005432 |
2007 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified.
|
17221865 |
2007 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
MID2, a gene closely related to MID1, which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient.
|
16283679 |
2005 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
|
15558842 |
2005 |
|
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 |
Biomarker
|
disease |
BEFREE |
The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.
|
12655643 |
2003 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The gene MID1, the mutation of which causes X-linked Opitz G/BBB syndrome (OS, MIM 300000), encodes a microtubule-associated protein (MAP).
|
11685209 |
2001 |
|
Opitz-G syndrome, type 2
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
A member of this protein family, MID1, is the gene responsible for the X-linked form of Opitz G/BBB syndrome, a developmental disorder characterized by defects of the midline structures.
|
10400986 |
1999 |