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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1958-2017
024619582017

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2015
2015
BACKGROUND Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive… (More)
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2009
2009
Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) are clinically… (More)
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2009
2009
PURPOSE To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish… (More)
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2009
2009
BACKGROUND The uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) enzyme is responsible for conjugation of the bilirubin in… (More)
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2009
2009
We have used a yeast two-hybrid interaction assay to identify Asator, a tau-tubulin kinase homolog in Drosophila that interacts… (More)
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2009
2009
Identifying developmental processes regulated by Notch1 can be addressed in part by characterizing mice with graded levels of… (More)
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2008
2008
Pathological anxiety is paralleled by deficits in serotonergic and GABAergic neurotransmission in the amygdala. Conversely… (More)
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Highly Cited
2007
Highly Cited
2007
The Wnt/beta-catenin signaling pathway has emerged as a key regulator in bone development and bone homeostasis. Loss-of-function… (More)
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Highly Cited
2007
Highly Cited
2007
The zinc-finger transcriptional repressor Blimp1 (Prdm1) controls gene expression patterns during differentiation of B… (More)
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2005
2005
Platelet activation is a hallmark of severe preeclampsia, and platelet PGH synthase 1-derived (PGHS1-derived) thromboxane A(2… (More)
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