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| Status |
Public on Dec 22, 2021 |
| Title |
Autoinflammatory keratinization disease with hepatitis and autism reveals roles for JAK1 kinase hyperactivity in autoinflammation. |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Clinical observations reinforced by analysis of a knock-in mouse model confirm the crucial role of JAK1 in regulating physiological inflammatory processes. The present findings expand the phenotypic spectrum resulted from JAK1 hyperactivation and further underscore how gain-of-function JAK1 mutations contribute to multisystem autoinflammation.
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| Overall design |
RNA sequencing was performed using extracted RNA from the brain, liver, and skin of newborn Jak1 knock in (KI) mice (Jak1H595D/+;I596I/+;Y597Y/+) and wild type (WT) mice . We performed a gene set enrichment analysis using the hallmark gene set database.
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| Contributor(s) |
Takeichi T, Lee JY, Okuno Y, Akiyama M |
| Citation(s) |
35046931 |
| |
| Submission date |
Dec 13, 2020 |
| Last update date |
Jan 31, 2022 |
| Contact name |
Takuya Takeichi |
| E-mail(s) |
takeichi@med.nagoya-u.ac.jp
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| Phone |
+81-52-744-2314
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| Organization name |
Nagoya University Graduate of School
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| Street address |
65 Tsurumai-cho, Showa-ku
|
| City |
Nagoya |
| ZIP/Postal code |
466-8550 |
| Country |
Japan |
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| Platforms (1) |
| GPL24247 |
Illumina NovaSeq 6000 (Mus musculus) |
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| Samples (21)
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| Relations |
| BioProject |
PRJNA684903 |
| SRA |
SRP297788 |
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