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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
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8…
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 transcription co-factor CITED2 functions during sex determination and early gonad development.
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
Phosphatidylinositide Dependent Kinase Deficiency Increases Anxiety and Decreases GABA and Serotonin Abundance in the Amygdala
Pathological anxiety is paralleled by deficits in serotonergic and GABAergic neurotransmission in the amygdala. Conversely… Expand
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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… Expand
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Highly Cited
2005
Highly Cited
2005
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
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
An MT1-MMP-PDGF receptor-beta axis regulates mural cell investment of the microvasculature.
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
Drosophila KAP Interacts with the Kinesin II Motor Subunit KLP64D to Assemble Chordotonal Sensory Cilia, but Not Sperm Tails
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
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
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
A lin-45 raf enhancer screen identifies eor-1, eor-2 and unusual alleles of Ras pathway genes in Caenorhabditis elegans.
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
Maternal IL-11Ralpha function is required for normal decidua and fetoplacental development in mice.
In eutherian mammals, implantation and establishment of the chorioallantoic placenta are essential for embryo development and… Expand
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