|
Myocardial Infarction
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The aim of this study was to assess the effects of NBCe1 overexpression on cardiac remodeling induced by myocardial infarction (MI) in mice.
|
31778748 |
2020 |
|
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
It is tempting to speculate that tannic acid or related compounds that inhibits NBCe1-mediated pHi regulation in glial-like cells may also have bearing on the treatment of glial neoplasms.
|
31714480 |
2020 |
|
Post MI
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We generated NBCe1 transgenic (Tg) mice and NBCe1 overexpressing adult mouse ventricular myocytes (AMVMs) to investigate the role of NBCe1 on post-MI remodeling and calcium kinetics.
|
31778748 |
2020 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Survival analysis revealed that low expression of four of the ten genes, carcinoembryonic antigen related cell adhesion molecule 7 (CEACAM7), solute carrier family 4 member 4 (SLC4A4), glucagon (GCG) and chloride channel accessory 1 (CLCA1) genes, were associated with unfavorable prognosis in CRC.
|
31612015 |
2019 |
|
Neoplasm Metastasis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
SLC4A4 overexpression restrained cell proliferation and metastasis by suppressing Kirsten rat sarcoma viral oncogene (KRAS) expression in renal cancer cells.
|
30668544 |
2019 |
|
Metabolic alkalosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The results showed significant downregulation of NBCe1 activity following metabolic alkalosis without influencing protein abundance or surface expression of NBCe1.
|
31318482 |
2019 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
MiR-223-3p promotes cell proliferation and metastasis by downregulating SLC4A4 in clear cell renal cell carcinoma.
|
30668544 |
2019 |
|
Hyperactive behavior
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Because NHE and NBCn1 hyperactivity as well as the NBCe1 decreased activity have been associated with several cardiovascular pathologies, the aim of this study was to investigate the potential alterations of the alkalinizing transporters during the postmenopausal period.
|
30917747 |
2019 |
|
Primary congenital glaucoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
On the other hand, mutations were identified in genes linked to other ophthalmic phenotypes, some inclusive of glaucoma, highlighting conditions that might phenotypically overlap with primary congenital glaucoma (SLC4A4, SLC4A11, CPAMD8, and KERA).
|
29556725 |
2019 |
|
Turner Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner's syndrome.
|
29914390 |
2018 |
|
Blindness
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
The sodium-bicarbonate cotransporter NBCe1 functions in multiple organs and its mutations cause blindness, abnormal growth and blood chemistry, migraines, and impaired cognitive function.
|
29500354 |
2018 |
|
Acidosis, Respiratory
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Isocapnic acidosis, hypercapnic acidosis and isohydric hypocapnia evoked inward currents in NBCe1- and CAII-expressing Xenopus laevis oocytes, but not in native oocytes, suggesting that NBCe1 operates in the outwardly directed mode under these conditions consistent with our findings in astrocytes.
|
27981578 |
2017 |
|
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
Moreover, hsa-miR-425 and hsa-miR-126 had a significant number of target genes and hsa-miR-16/COL12A1 and hsa-miR-634/SLC4A4 interaction pairs are significantly co-expressed, suggesting that they might play important roles in the pathogenesis of obesity.
|
25701361 |
2015 |
|
Metabolic Syndrome X
|
0.010 |
Biomarker
|
disease |
BEFREE |
Preserved Na/HCO3 cotransporter sensitivity to insulin may promote hypertension in metabolic syndrome.
|
25354240 |
2015 |
|
Abnormality of dental enamel
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Extrapolating these data to humans, our findings suggest that in patients with NBCe1 mutations, correction of the systemic metabolic acidosis at a sufficiently early time point may lead to amelioration of enamel abnormalities.
|
24828138 |
2014 |
|
Tooth Abnormalities
|
0.010 |
Biomarker
|
group |
BEFREE |
Mutations in SLC4A4, the gene encoding the electrogenic Na(+)-HCO3(-) cotransporter NBCe1, cause severe proximal renal tubular acidosis (pRTA), growth retardation, decreased IQ, and eye and teeth abnormalities.
|
23636456 |
2013 |
|
Migraine Disorders
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The immunohistological and functional analyses of these mutants demonstrate that the near total loss of NBCe1 activity in astrocytes can cause migraine potentially through dysregulation of synaptic pH.
|
20798035 |
2010 |
|
Familial Hemiplegic Migraine
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis ruled out pathological mutations in the known genes for familial hemiplegic migraine, but identified a homozygous 65-bp deletion (Delta65bp) in the C terminus of NBCe1, corresponding to the codon change S982NfsX4.
|
20798035 |
2010 |
|
Dwarfism
|
0.010 |
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 |
|
Nasal Polyps
|
0.010 |
Biomarker
|
disease |
BEFREE |
In this study we investigated the expression and distribution of mRNA transcripts for kNBC, pancreatic NBC, KCC1, -2, -3, -4 and CaCC1, -2, -3 gene families in human nasal mucosa and nasal polyp.
|
16012037 |
2005 |
|
Trichohepatoenteric Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To understand the pathophysiology of the syndrome, we expressed wild-type (WT) NBCe1 and S427L-NBCe1 in Xenopus oocytes.
|
15471865 |
2004 |
|
Renal Cell Carcinoma
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
In RCC cells, the anti-kNBC-1 antibody labeled both plasma membranes and intracellular organelles.
|
14559244 |
2003 |
|
Bilateral glaucoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.
|
11274232 |
2001 |
|
Alkalosis
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Specifically, NBC-1 may be up-regulated in metabolic acidosis and potassium depletion and in response to glucocorticoid excess and may be down-regulated in response to HCO3- loading or alkalosis.
|
10652014 |
2000 |
|
Corneal calcification
|
0.010 |
GeneticVariation
|
phenotype |
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 |