Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
CTD_human |
Functional rescue of a kidney anion exchanger 1 trafficking mutant in renal epithelial cells.
|
23460825 |
2013 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis.
|
17941824 |
2008 |
Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
MGD |
Distal renal tubular acidosis in mice lacking the AE1 (band3) Cl-/HCO3- exchanger (slc4a1).
|
17409310 |
2007 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Distal renal tubular acidosis associated with anion exchanger 1 mutations in children in Thailand.
|
17533027 |
2007 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
|
15211439 |
2004 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.
|
14736961 |
2004 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population.
|
12938018 |
2003 |
Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
MGD |
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency.
|
12669066 |
2003 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.
|
14654610 |
2003 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.
|
12087557 |
2002 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
LHGDN |
Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.
|
11934690 |
2002 |
Renal tubular acidosis
|
0.690 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with sensorineural deafness; and in the gene CA2, encoding carbonic anhydrase II, in autosomal recessive osteopetrosis.
|
11045400 |
2000 |
Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
RGD |
Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis.
|
10600930 |
1999 |
Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
CTD_human |
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
|
9312167 |
1997 |
Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
MGD |
Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton.
|
8808627 |
1996 |
Renal tubular acidosis
|
0.690 |
Biomarker
|
phenotype |
HPO |
|
|
|