| Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4. | Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K. | 07/9/2022 |
| Extracellular vesicles derived from cancer-associated fibroblast carries miR-224-5p targeting SLC4A4 to promote the proliferation, invasion and migration of colorectal cancer cells. | Extracellular vesicles derived from cancer-associated fibroblast carries miR-224-5p targeting SLC4A4 to promote the proliferation, invasion and migration of colorectal cancer cells.
Zheng Y, Zeng J, Lin D, Xia H, Wang X, Chen L, Chen H, Huang L, Zeng C. | 01/1/2022 |
| A novel I551F variant of the Na(+)/HCO3(-) cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity. | A novel I551F variant of the Na(+)/HCO(3)(-) cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity.
Yamazaki O, Yamashita M, Li J, Ochiai-Homma F, Yoshida T, Hirahashi J, Furukawa T, Kozuma K, Fujigaki Y, Seki G, Hayashi M, Shibata S. | 12/11/2021 |
| Sodium bicarbonate transporter NBCe1 regulates proliferation and viability of human prostate cancer cells LNCaP and PC3. | Sodium bicarbonate transporter NBCe1 regulates proliferation and viability of human prostate cancer cells LNCaP and PC3.
Li JM, Lee S, Zafar R, Shin E, Choi I., Free PMC Article | 12/4/2021 |
| Electrogenic sodium bicarbonate cotransporter NBCe1 regulates pancreatic beta cell function in type 2 diabetes. | Electrogenic sodium bicarbonate cotransporter NBCe1 regulates pancreatic β cell function in type 2 diabetes.
Brown MR, Holmes H, Rakshit K, Javeed N, Her TK, Stiller AA, Sen S, Shull GE, Prakash YS, Romero MF, Matveyenko AV., Free PMC Article | 11/13/2021 |
| Prognostic Value of SLC4A4 and its Correlation with Immune Infiltration in Colon Adenocarcinoma. | Prognostic Value of SLC4A4 and its Correlation with Immune Infiltration in Colon Adenocarcinoma.
Chen X, Chen J, Feng Y, Guan W., Free PMC Article | 05/22/2021 |
| hsa_circRNA_001587 upregulates SLC4A4 expression to inhibit migration, invasion, and angiogenesis of pancreatic cancer cells via binding to microRNA-223. | hsa_circRNA_001587 upregulates SLC4A4 expression to inhibit migration, invasion, and angiogenesis of pancreatic cancer cells via binding to microRNA-223.
Zhang X, Tan P, Zhuang Y, Du L. | 01/9/2021 |
| SLC4A4 expression correlated negatively with miR-223-3p expression in patient samples. Given that miR-223-3p suppressed the SLC4A4/KRAS axis, miR-223-3p gene therapy could be an effective treatment for renal cancer. | MiR-223-3p promotes cell proliferation and metastasis by downregulating SLC4A4 in clear cell renal cell carcinoma.
Xiao W, Wang X, Wang T, Xing J., Free PMC Article | 04/4/2020 |
| the sodium bicarbonate cotransporter NBCe1-B is expressed in rat and human thyroid | Expression, Localization, and Regulation of the Sodium Bicarbonate Cotransporter NBCe1 in the Thyroid.
Virreira M, Jin L, Djerbib S, De Deken X, Miot F, Massart C, Svoboda M, Van Sande J, Beauwens R, Dumont JE, Boom A. | 02/15/2020 |
| The SLC4A4 transcript was almost undetectable in the proband. | SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
Horita S, Simsek E, Simsek T, Yildirim N, Ishiura H, Nakamura M, Satoh N, Suzuki A, Tsukada H, Mizuno T, Seki G, Tsuji S, Nangaku M., Free PMC Article | 04/20/2019 |
| In this retrospective case series, we highlight our experience with children referred to a pediatric ophthalmologist who were found to harbor underlying biallelic SLC4A4 mutations. | Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations.
Khan AO, Basamh OS. | 03/30/2019 |
| A novel mechanism for variable phenotypic expressivity in band-shaped corneal dystrophy mediated by an AU-rich element (ARE)-creating mutation in SLC4A4 in three unrelated consanguineous families has been described. | A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.
Patel N, Khan AO, Al-Saif M, Moghrabi WN, AlMaarik BM, Ibrahim N, Abdulwahab F, Hashem M, Alshidi T, Alobeid E, Alomar RA, Al-Harbi S, Abouelhoda M, Khabar KSA, Alkuraya FS., Free PMC Article | 04/21/2018 |
| the structure of the membrane domain dimer of human NBCe1 at 3.9 A resolution by cryo electron microscopy, was determined. | CryoEM structure of the human SLC4A4 sodium-coupled acid-base transporter NBCe1.
Huynh KW, Jiang J, Abuladze N, Tsirulnikov K, Kao L, Shao X, Newman D, Azimov R, Pushkin A, Zhou ZH, Kurtz I., Free PMC Article | 03/31/2018 |
| Common variants in the SLC4A4 gene might contribute to the variation of blood pressure responses to dietary sodium intake in Han Chinese population. | Common variants in the Na(+)-coupled bicarbonate transporter genes and salt sensitivity of blood pressure: the GenSalt study.
Guo L, Liu F, Chen S, Yang X, Huang J, He J, Jaquish CE, Zhao Q, Gu CC, Hixson JE, Gu D., Free PMC Article | 01/27/2018 |
| R510H and Q913R identified in a patient with proximal renal tubular acidosis. Mutant proteins exhibit substantial intracellular retention when expressed in mammalian renal cell lines. Q913R is associated with an unusual HCO3- independent anion-leak in Xenopus oocytes. | A novel mutant Na(+) /HCO3(-) cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis.
Myers EJ, Yuan L, Felmlee MA, Lin YY, Jiang Y, Pei Y, Wang O, Li M, Xing XP, Marshall A, Xia WB, Parker MD., Free PMC Article | 09/2/2017 |
| miR-224 was significantly downregulated as ameloblasts differentiated, in parallel with upregulation of SLC4A4 and CFTR. | MicroRNA 224 Regulates Ion Transporter Expression in Ameloblasts To Coordinate Enamel Mineralization.
Fan Y, Zhou Y, Zhou X, Sun F, Gao B, Wan M, Zhou X, Sun J, Xu X, Cheng L, Crane J, Zheng L., Free PMC Article | 10/10/2015 |
| The R298S is a temperature-sensitive mutation in NBCe1-A that results in instability of the colloidal system leading to abnormal aggregation. | Rescue of the temperature-sensitive, autosomal-recessive mutation R298S in the sodium-bicarbonate cotransporter NBCe1-A characterized by a weakened dimer and abnormal aggregation.
Gill HS, Choi KY, Kammili L, Popratiloff A., Free PMC Article | 09/5/2015 |
| our results indicate that SLC4A4 contributes to the HCO3(-) transport and tumor cell phenotype | The Na(+)/HCO3(-) Co-Transporter SLC4A4 Plays a Role in Growth and Migration of Colon and Breast Cancer Cells.
Parks SK, Pouyssegur J. | 07/25/2015 |
| These results revealed that insulin can stimulate PT sodium transport even in type 2 diabetes with overt nephropathy. | Stimulatory effect of insulin on renal proximal tubule sodium transport is preserved in type 2 diabetes with nephropathy.
Nakamura M, Satoh N, Suzuki M, Kume H, Homma Y, Seki G, Horita S. | 07/25/2015 |
| Data indicate that a domain-like structure formed by extracellular loop 3 (EL-3) is present at the SLC4 Na+-coupled transporter NBCe1-A dimeric interface. | Interplay between disulfide bonding and N-glycosylation defines SLC4 Na+-coupled transporter extracellular topography.
Zhu Q, Kao L, Azimov R, Abuladze N, Newman D, Kurtz I., Free PMC Article | 05/16/2015 |
| The cell membrane gene SLC4A4 and the trafficking regulator gene COPA, which also plays an important role in early endosome maturation, were identified for the cellular entry of poly-arginine peptide. | COPA and SLC4A4 are required for cellular entry of arginine-rich peptides.
Tsumuraya T, Matsushita M., Free PMC Article | 12/27/2014 |
| Our results demonstrate a surprisingly high apparent bicarbonate sensitivity mediated by NBCe1 in cortical astrocytes | The electrogenic sodium bicarbonate cotransporter NBCe1 is a high-affinity bicarbonate carrier in cortical astrocytes.
Theparambil SM, Ruminot I, Schneider HP, Shull GE, Deitmer JW., Free PMC Article | 03/15/2014 |
| a clear understanding of the structure-functional properties of NBCe1 is a prerequisite for elucidating the mechanisms of defective transepithelial bicarbonate transport--{REVIEW} | Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.
Kurtz I, Zhu Q., Free PMC Article | 03/1/2014 |
| A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters. | A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transporters.
Shnitsar V, Li J, Li X, Calmettes C, Basu A, Casey JR, Moraes TF, Reithmeier RAF., Free PMC Article | 02/8/2014 |
| Suggest NBce1-A missense mutation as new pathogenic mechanism for generating human proximal tubular acidosis. | Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis.
Zhu Q, Shao XM, Kao L, Azimov R, Weinstein AM, Newman D, Liu W, Kurtz I., Free PMC Article | 10/26/2013 |