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PMID |
Sentence |
1 |
10425039
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Compound deletion of the rhoGAP C1 and V2 vasopressin receptor genes in a patient with nephrogenic diabetes insipidus.
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2 |
10425039
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The C1 gene at Xq28 encodes a protein assumed to function as a Rho GTPase-activating protein (rhoGAP).
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3 |
10425039
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Characterization of the molecular defect causing X-linked nephrogenic diabetes insipidus (NDI) in a patient revealed a submicroscopic deletion of a 21.5-kb genomic fragment encompassing the entire arginine-vasopressin V2 receptor gene (AVPR2) and most of the C1 gene locus.
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4 |
10425039
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Therefore, we postulate that the loss of rhoGAP C1 function is most likely compensated by other members of the GAP family.
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5 |
22965914
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A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
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6 |
22965914
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The protein encoded by ARHGAP4 is thought to function as a Rho GTPase activating protein.
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7 |
22965914
|
Characterization of the genetic defect causing X-linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers revealed a novel contiguous deletion of 17,905 bp encompassing the entire AVPR2 gene and extending into intron 7 of the ARHGAP4 gene.
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8 |
22965914
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An attempt was made to distinguish the putative clinical signs of an ARHGAP4 deletion from the well-defined phenotype of X-linked NDI caused by an AVPR2 gene deletion.
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