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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… Expand
National Institutes of Health

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Highly Cited
2009
Highly Cited
2009
Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) are clinically… Expand
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2009
2009
The early bi-potential mammalian gonad requires the expression of a Y-linked gene, Sry, during a brief window of time to ensure… Expand
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2008
2008
Pathological anxiety is paralleled by deficits in serotonergic and GABAergic neurotransmission in the amygdala. Conversely… Expand
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2008
2008
ABSTRACT The Prep1 homeodomain transcription factor is essential in embryonic development. Prep1 hypomorphic mutant mouse (Prep1i… Expand
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Highly Cited
2005
Highly Cited
2005
Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause T- B- SCID, whereas… Expand
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Highly Cited
2005
Highly Cited
2005
Platelet-derived growth factor (PDGF)/PDGFRbeta-dependent investment of the vascular endothelium by mural cells (i.e., pericytes… Expand
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Kinesin II-mediated anterograde intraflagellar transport (IFT) is essential for the assembly and maintenance of… Expand
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Highly Cited
2003
Highly Cited
2003
X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene… Expand
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2002
2002
In Caenorhabditis elegans, the Ras/Raf/MEK/ERK signal transduction pathway controls multiple processes including excretory system… Expand
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Highly Cited
1998
Highly Cited
1998
In eutherian mammals, implantation and establishment of the chorioallantoic placenta are essential for embryo development and… Expand
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