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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
Thus impaired trafficking of the kAE1 G701D and A858D mutants would lead to a profound decrease in functional kAE1 at the basolateral membrane of alpha-intercalated cells in the distal nephron of the patients with dRTA.
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20151848 |
2010 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
We have found an important and unusual exception: a novel combination of heterozygous E522K and G701D mutations in the anion exchanger 1 manifested as complete distal renal tubular acidosis and severe hereditary spherocytosis in an affected patient.
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19625994 |
2009 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
Recently, we described a cation leak property in four dRTA-causing AE1 mutants, three autosomal dominant (AD) European mutants, one autosomal recessive (AR) from Southeast Asia, G701D.
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19289107 |
2009 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
Genetic and hematological studies in 18 Thai patients with dRTA have shown that 12 of them (67%) carried SLC4A1 mutations (7 G701D/G701D, 3 SAO/G701D, and 2 G701D/A858D).
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18266205 |
2008 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
Compound heterozygous anion exchanger 1 (AE1) SAO/G701D mutations result in distal renal tubular acidosis with Southeast Asian ovalocytosis.
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17027918 |
2006 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
Therefore, compound heterozygous patients expressing both recessive mutants (G701D/S773P) likely developed dRTA due to the lack of a functional kAE1 at the basolateral surface of alpha-intercalated cells.
|
16420521 |
2006 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
The biosynthesis and trafficking of kAE1 containing a novel recessive missense dRTA mutation (kAE1 S773P) was studied in transiently transfected HEK-293 cells, expressing the mutant alone or in combination with wild-type kAE1 or another recessive mutant, kAE1 G701D.
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15252044 |
2004 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
We have recently demonstrated homozygous AE1 G701D mutation as a common molecular defect of autosomal recessive (AR) dRTA in a group of Thai pediatric patients.
|
12750988 |
2003 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
Results of this and previous studies show that a homozygous AE1 G701D mutation causes AR dRTA and is a common molecular defect among Thai pediatric patients with dRTA.
|
12087557 |
2002 |
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rs121912748
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0.100 |
GeneticVariation |
BEFREE |
However, the two clinically affected individuals with SAO and dRTA had compound heterozygosity of 27 bp deletion in exon 11 and missense mutation G701D resulting from a CGG-->CAG substitution in exon 17 of the AE1 gene.
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10571775 |
1999 |