Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development.
|
28380362 |
2017 |
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
14-3-3ε, encoded by YWHAE, is an adapter protein belonging to the 14-3-3 protein family which plays important roles in neuronal development and is involved in Miller-Dieker syndrome.
|
23266643 |
2013 |
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Her facial features are similar to MDS, and she has manifestations seen in other cases with YWHAE duplication.
|
23633430 |
2013 |
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome.
|
23035971 |
2012 |
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Examination of cerebral spinal fluid in humans suggests that 14-3-3s including 14-3-3ε (YWHAE) are up-regulated in several neurological diseases, and loss or duplication of the YWHAE gene leads to Miller-Dieker syndrome.
|
22811265 |
2012 |
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome.
|
19136950 |
2009 |
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller-Dieker Syndrome.
|
19120042 |
2009 |
Miller Dieker syndrome
|
0.600 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and YWHAE result in Miller-Dieker syndrome characterised by facial dysmorphisms and a more severe grade of lissencephaly.
|
19584063 |
2009 |
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
|
19584063 |
2009 |
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay.
|
19287139 |
2008 |
Miller Dieker syndrome
|
0.600 |
Biomarker
|
disease |
MGD |
14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
|
12796778 |
2003 |
Miller Dieker syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have created a physical map covering approximately 3.5 Mb (6 cM)in this region, spanning the RP13 interval and extending distally to the gene MDCR (formerly, LIS1), which, when deleted, leads to the MDLS phenotype.
|
10828595 |
2000 |
Schizophrenia
|
0.450 |
GeneticVariation
|
disease |
GWASCAT |
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
|
30285260 |
2019 |
Schizophrenia
|
0.450 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.
|
28991256 |
2017 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
PSYGENET |
These results suggest a possible role for the YWHAE genotype in the early development of the OFC sulcogyral pattern, but its effect alone is not likely to explain the altered sulcogyral pattern in schizophrenia.
|
24561237 |
2014 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
BEFREE |
Our results also suggest its specific role among YWHAE SNPs in the pathophysiology of schizophrenia.
|
25105667 |
2014 |
Schizophrenia
|
0.450 |
GeneticVariation
|
disease |
BEFREE |
These results suggest a possible role for the YWHAE genotype in the early development of the OFC sulcogyral pattern, but its effect alone is not likely to explain the altered sulcogyral pattern in schizophrenia.
|
24561237 |
2014 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
PSYGENET |
Our results also suggest its specific role among YWHAE SNPs in the pathophysiology of schizophrenia.
|
25105667 |
2014 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
PSYGENET |
In this study, we applied a pooled sample 454 sequencing strategy, to explore the contribution of genetic variation in DISC1 and 10 of its interaction partners (ATF5, Grb2, FEZ1, LIS-1, PDE4B, NDE1, NDEL1, TRAF3IP1, YWHAE, and ZNF365) to schizophrenia susceptibility in an isolated northern Swedish population.
|
21853134 |
2011 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
BEFREE |
Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.
|
21184166 |
2011 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
BEFREE |
In this study, we applied a pooled sample 454 sequencing strategy, to explore the contribution of genetic variation in DISC1 and 10 of its interaction partners (ATF5, Grb2, FEZ1, LIS-1, PDE4B, NDE1, NDEL1, TRAF3IP1, YWHAE, and ZNF365) to schizophrenia susceptibility in an isolated northern Swedish population.
|
21853134 |
2011 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
PSYGENET |
Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.
|
21184166 |
2011 |
Schizophrenia
|
0.450 |
Biomarker
|
disease |
LHGDN |
Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia.
|
18658164 |
2008 |
Endometrial Stromal Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tumors with YWHAE-NUTM2 fusions and BCOR genetic abnormalities showed morphology characteristic of high-grade endometrial stromal sarcomas.
|
30789359 |
2019 |
Endometrial Stromal Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In an update based on the 2014 WHO classification, low-grade ESS is often associated with gene rearrangement bringing about the JAZF 1-SUZ12 (formerly JAZF1-JJAZ1) fusion gene, whereas high-grade ESS is associated with the YWHAE-NUTM fusion gene.
|
29660202 |
2018 |