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23086420 |
Several myotubularins have been genetically linked to human diseases: MTM1 is mutated in the congenital myopathy X-linked centronuclear or myotubular myopathy (XLCNM) and MTMR14 (JUMPY) has been linke |
317 Bytes |
2020-02-26 |
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5 |
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| @dpavot |
24357125 |
Likely haploinsufficiency of one or several of the 19 genes in the common deleted interval (ACTN1, DCAF5, EXD2, GALNTL1, ERH, SLC39A9, PLEKHD1, CCDC177, KIAA0247, LOC100289511, SRSF5, SLC10A1, SMOC1, |
555 Bytes |
2020-02-21 |
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22 |
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| @dpavot |
24455740 |
We initially selected 6 fluoropyrimidine metabolism-related genes (DPYD, ORPT, TYMS, TYMP, TK1, and TK2) and 3 radiotherapy response-related genes (GLUT1, HIF-1α, and HIF-2α) as targets for gene expre |
249 Bytes |
2020-02-26 |
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1 |
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3 |
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| @dpavot |
24827421 |
Our study reports the first mutations in the VARS2 and TARS2 genes, which encode two mitochondrial aminoacyl-tRNA synthetases, as causes of clinically distinct, early-onset mitochondrial encephalopath |
204 Bytes |
2020-02-26 |
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| @dpavot |
24898506 |
These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDSN, APCDD1 and SNRPE for the autosomal dominant form of hypotrichosis simplex, and the genes DSG4, LI |
314 Bytes |
2020-02-21 |
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| @dpavot |
25264125 |
The genes HLA complex P5 (HCP5), spermatogenesis associated 2 (SPATA2), tumour necrosis factor alpha-induced protein 3 (TNFAIP3), TNFAIP3-interacting protein 1 (TNIP1) and the component of oligomeric |
327 Bytes |
2020-02-26 |
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| @dpavot |
25343988 |
In humans, mutations in several genes involved in the Notch pathway are associated with SDV, with both autosomal recessive (MESP2, DLL3, LFNG, HES7) and autosomal dominant (TBX6) inheritance. |
191 Bytes |
2020-02-26 |
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| @dpavot |
25590583 |
Based on the generated interaction network, we examine several apoptotic markers to determine the effect of PSMC3IP and EPSTI1 gene expression modulation in two different human breast cancer cell line |
280 Bytes |
2020-02-26 |
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| @dpavot |
26077881 |
The findings in this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DYNC2LI1 in dynein-2 complex stability, cilium function, Hedgehog regulation and skele |
210 Bytes |
2020-02-26 |
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| @dpavot |
26211651 |
In addition, polymorphisms in apoptosis-related genes such as RNF7, TULP1, and MERTK are associated with fibrosis progression, and DEPDC5 and MICA variants are associated with HCV-related hepatocellul |
213 Bytes |
2020-02-26 |
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