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| Status |
Public on Jun 29, 2017 |
| Title |
Unexpected Innovative Early Diagnosis in Autism Spectrum Disorder: Premature Tooth Eruption in ADNP-Mutated Children |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
The discovery of activity-dependent neuroprotective protein (ADNP) regulated tooth eruption in mice and man, provides, for the first time, an early detection of tooth eruption, with full or almost full mouth of teeth at one year of age, as a potential biomarker for an intellectual disability (ID)/autism spectrum disorder (ASD) syndrome, toward improved translational medicine.
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| Overall design |
RNAseq of 4 samples, comparing three ADNP-mutated lymphoblastoid cell lines (LCLs, derived from ADNP-mutated children) with a non-mutated cell line. No replicates were performed but results were verified usign RT-PCR.
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| Contributor(s) |
Gozes I, Van Dijck A, Hacohen Kleiman G, Grigg I, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian Sermone S |
| Citation(s) |
28221363, 30106381, 32661233 |
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| Submission date |
May 10, 2016 |
| Last update date |
Jul 27, 2020 |
| Contact name |
Metsada Pasmanik-Chor |
| E-mail(s) |
[email protected]
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| Organization name |
Tel Aviv University
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| Department |
Biology
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| Lab |
Bioinformatics Unit
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| Street address |
Ramat Aviv
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| City |
Tel Aviv |
| ZIP/Postal code |
69978 |
| Country |
Israel |
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| Platforms (1) |
| GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
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| Samples (4)
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| Relations |
| BioProject |
PRJNA321152 |
| SRA |
SRP074749 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE81268_Gozes_human_mRNA_gene_counts.txt.gz |
315.7 Kb |
(ftp)(http) |
TXT |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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