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Comment
. 2023 Aug;31(8):856-858.
doi: 10.1038/s41431-023-01362-4. Epub 2023 Apr 21.

Human molecular genetics sheds light on the physiological significance of ribonuclease inhibitor (RNH1)

Mayuresh Anant Sarangdhar  1   2 , Nicola Andina  3   4 , Ramanjaneyulu Allam  5   6
Affiliations
Comment

Human molecular genetics sheds light on the physiological significance of ribonuclease inhibitor (RNH1)

Mayuresh Anant Sarangdhar et al. Eur J Hum Genet. 2023 Aug.
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Human and mouse molecular genetics have uncovered important physiological functions of Ribonuclease inhibitor 1 (RNH1).
Constitutive Rnh1 knockout in mice is embryonically lethal, shows erythroid differentiation defects and anemia phenotype. Rnh1 deletion in myeloid cells increases inflammation by innate immune activators. Loss-of-function mutations in the human RNH1 gene affects brain, muscles, eyes and cause infection-induced psychomotor deterioration, seizures, and macrocytic anemia. RNH1 structure is taken from PDB.
See this image and copyright information in PMC

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References

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