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Hypomorphic RAG1 Deficiency

A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Interplay of Cyclic GMP-AMP Synthase/Stimulator of IFN Genes and Toll-Like Receptor Nucleic Acid Sensing Pathways in Autoinflammation and Abnormal Bone Formation due to DNaseII-Deficiency
Nucleic acid (NA) sensing receptors were first described in the context of host defense. We now know that some endosomal NA… 
2020
2020
A novel hypomorphic ζ-chain-associated protein tyrosine kinase 70 kDa mutation with normal CD8+ T cells count
2019
2019
Vasculitis as a major morbidity factor in patients with hypomorphic RAG mutations: 350
2017
2017
Ferrochelatase gene mutation in Singapore and a novel frame‐shift mutation in an Asian boy with erythropoietic protoporphyria
Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis caused by decreased activity of the enzyme… 
Review
2010
Review
2010
[Inheritance in erythropoietic protoporphyria].
2008
2008
Prep1 Directly Regulates the Intrinsic Apoptotic Pathway by Controlling Bcl-XL Levels
ABSTRACT The Prep1 homeodomain transcription factor is essential in embryonic development. Prep1 hypomorphic mutant mouse (Prep1i… 
2008
2008
Evidence for Ku 70 / Ku 80 association with full-length RAG 1
Antigen receptor genes are assembled by a sitespecific DNA rearrangement process called V(D)J recombination. This process… 
2007
2007
NHL and genomic variability in RAG1 and BRCA2
Response: In the letter by Scott and colleagues in this issue of Blood , the authors failed to identify an association between… 
1958
1958
[Parabiotic breeding of hypomorphic heteroploid individuals of salamander, Pleurodeles waltlii Michah].
1958
1958
[Parabiotic breeding of hypomorphic heteroploid individuals of salamander, Pleurodeles waltlii Michah].
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