|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the electrogenic Na(+)/HCO3(-) cotransporter (NBCe1) that cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts in patients are recessive.
|
24477681 |
2014 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NBCe1-A transmembrane segment 1 (TM1) is involved in forming part of the ion permeation pathway, and a missense mutation S427L in TM1 impairs ion transport, causing proximal renal tubular acidosis.
|
23362273 |
2013 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
BEFREE |
Given the important role of proximal tubule transepithelial bicarbonate absorption in systemic acid-base balance, a clear understanding of the structure-functional properties of NBCe1 is a prerequisite for elucidating the mechanisms of defective transepithelial bicarbonate transport in pRTA.
|
23917030 |
2013 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In patients, NBCe1-A-T485S is predicted to transport Na(+)-HCO3(-) in the reverse direction from blood into proximal tubule cells thereby impairing transepithelial HCO3(-) absorption, possibly representing a new pathogenic mechanism for generating human pRTA.
|
23636456 |
2013 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, NBC1(W516X/W516X) mice with pRTA represent an animal model for metabolic acidosis and may be useful for testing therapeutic inhibition of NMD in vivo.
|
21228764 |
2011 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in SLC4A4, encoding the electrogenic Na(+)-HCO(3)(-) cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities.
|
20798035 |
2010 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this in situ based NBCe1-A topology, residues mutated in pRTA (pRTA residues) are assigned as: Ser(427), TM1; Thr(485) and Gly(486), TM3; Arg(510) and Leu(522), TM4; Ala(799), TM10; and Arg(881), TM12.
|
20197274 |
2010 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings represent the first evidence that in the presence of the NBCe1-A-Q29X mutation that causes proximal renal tubular acidosis, full-length functional NBCe1-A protein can be produced.
|
18614622 |
2008 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study identified a new homozygous NBC1 mutation (G486R) in a patient with severe pRTA.
|
17661077 |
2008 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
CTD_human |
These findings represent the first evidence that in the presence of the NBCe1-A-Q29X mutation that causes proximal renal tubular acidosis, full-length functional NBCe1-A protein can be produced.
|
18614622 |
2008 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Though rare, recessive SLC4A4 mutations have been reported in patients with proximal renal tubular acidosis, short stature, and ocular pathology.
|
16636648 |
2006 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, a novel homozygous missense mutant (R881C) of NBCe1-A was reported from a patient with a severe pRTA phenotype.
|
16707554 |
2006 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results, together with the presence of nonfunctional mutants (Q29X and DeltaA) in other patients, suggest that at least approximately 50% reduction of NBC1 activity would be required to cause severe pRTA.
|
15930088 |
2005 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation.
|
15471865 |
2004 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our results expand the spectrum of kNBC1 mutations in permanent isolated pRTA with ocular abnormalities and increase our understanding of the renal tubular mechanism that is essential for acid-base homeostasis.
|
15085340 |
2004 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Na(+)-HCO(3)(-) cotransporter (NBC-1) cause proximal renal tubular acidosis (pRTA) associated with ocular abnormalities.
|
12444017 |
2003 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the kidney type Na+/HCO3- cotransporter gene (SLC4A4) cause permanent isolated proximal RTA with ocular abnormalities.
|
12027212 |
2002 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with autosomal recessive pRTA and ocular abnormalities have recently been found to have mutations in the kidney type Na(+)/HCO(3)(-) cotransporter gene (SLC4A4).
|
12138151 |
2002 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results have implications for understanding the role of kNBC1 in the pathophysiologic processes of pRTA associated with ocular abnormalities and mental retardation.
|
11274232 |
2001 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding the Na+/HCO3- cotransporter, NBC1, have recently been identified in proximal renal tubular acidosis with corneal calcification.
|
10990375 |
2000 |
|
Renal Tubular Acidosis, Type II
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cataract
|
0.440 |
Biomarker
|
disease |
BEFREE |
Mutations in the electrogenic Na(+)/HCO3(-) cotransporter (NBCe1) that cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts in patients are recessive.
|
24477681 |
2014 |
|
Cataract
|
0.440 |
Biomarker
|
disease |
CTD_human |
G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
|
18614622 |
2008 |
|
Cataract
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
We identified a novel, homozygous, missense SLC4A4 mutation (Leu522Pro in kNBCe1) in our patient who had pRTA, short stature, enamel hypoplasia, and bilateral ocular disease (cataract, glaucoma, and band keratopathy).
|
16636648 |
2006 |
|
Cataract
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.Genet.23, 264-266).
|
15471865 |
2004 |