identified the second double-variant RHAG allele and the first one related to Rhmod phenotype. The novel allele was also confirmed to be heritable by family analyses.
We characterized ammonia and ammonium (NH3/NH4 (+)) transport by the rhesus-associated (Rh) glycoproteins RhAG Rhbg and Rhcg expressed in Xenopus oocytes. We used ion-selective microelectrodes and two-electrode voltage clamp to measure changes in intracellular pH surface pH and whole cell currents induced by NH3/NH4 (+) and methyl amine/ammonium (MA/MA(+)).
novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T which leads to a premature stop codon (Gln104Stop).
Data from differentiating cultured erythroid precursor cells suggest that RhAG knockdown abolishes Rh blood group expression (RhoD [ras homolog family member D]
The results provide new insight into RhAG stomatocytosis mutant F65S as a combined loss-of-function/gain-of-function mutation for methylammonium/methylammonium+ transport
that the 672C>A missense mutation in the RHAG gene could result in Rh(null) of the regulator type and the single-amino-acid change (Ser to Arg) might be critical for assembly of the Rh antigen complex within the membrane
RhAG-mediated transport is an electroneutral process that is driven by the NH4+ concentration and the transmembrane H+ gradient effectively exchanging NH4+ for H+ in a process that results in transport of net NH3.
Observational study of gene-disease association. (HuGE Navigator); The combination of these polymorphisms could not be found in any control individuals suggesting that they might be involved in genetic predisposition to migraine in this family.
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