|
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
There were no clinical features able to recognize YWHAE-NUTM2 ESS.
|
25244606 |
2014 |
|
Endometrial Stromal Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Endometrial stromal sarcomas (ESSs) frequently harbor genetic fusions, including JAZF1-SUZ12 and equivalent fusions in low-grade ESS (LGESS) and YWHAE-NUTM2 in high-grade ESS (HGESS).
|
25288234 |
2014 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The ESTs that show higher grade atypia but lack nuclear pleomorphism include YWHAE-FAM22 ESS.Here we report an unusual case of ESTs.
|
24750188 |
2014 |
|
Endometrial Stromal Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Tumors with YWHAE-FAM22 rearrangements constitute a distinct group of ESS, which is associated with high-grade morphology and aggressive clinical behavior compared to JAZF1 ESS.
|
22456610 |
2012 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
YWHAE-FAM22 fusion gene knockdowns were performed with shRNAs and siRNAs targeting various FAM22A exons in an t(10;17)-bearing ESS cell line (ESS1): Fusion protein expression was inhibited, with corresponding reduction in cell growth and migration.
|
22223660 |
2012 |
|
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 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Not all HG tumors showed a YWHAE-NUTM chimeric transcript and as many as six LGESS showed no hitherto known ESS-related fusions.
|
27219024 |
2016 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The chimeric transcripts described in endometrial stromal sarcomas (ESS) are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67, and recombinations of PHF1 with JAZF1, EPC1, and MEAF6.
|
24530230 |
2014 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Gene expression profiles of seven ESS (including three with YWHAE and two with JAZF1 rearrangements) and four UES without specific chromosomal aberrations indicated clustering of tumors with MBTD1-CXorf67 fusion together with low-grade JAZF1-associated ESS.
|
23959973 |
2014 |
|
Endometrial Stromal Sarcoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We applied an NGS-based fusion transcript detection assay (Archer FusionPlex Sarcoma Panel) that targets YWHAE and JAZF1 fusions in a series of low-grade ESSs (n = 11) and high-grade ESSs (n = 5) that were previously confirmed to harbour genetic rearrangements by fluorescence in-situ hybridization (FISH) and/or reverse transcription polymerase chain reaction (RT-PCR) analyses.
|
26990025 |
2016 |
|
Endometrial Stromal Sarcoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma.
|
24125656 |
2014 |