Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
about
IRBIT, an inositol 1,4,5-trisphosphate receptor-binding protein, specifically binds to and activates pancreas-type Na+/HCO3- cotransporter 1 (pNBC1)A substrate access tunnel in the cytosolic domain is not an essential feature of the solute carrier 4 (SLC4) family of bicarbonate transportersDefective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraineTopological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosisPhosphorylation of Ser(982) in the sodium bicarbonate cotransporter kNBC1 shifts the HCO(3)(-) : Na(+) stoichiometry from 3 : 1 to 2 : 1 in murine proximal tubule cellsRoles of renal proximal tubule transport in acid/base balance and blood pressure regulationMolecular mechanisms and regulation of urinary acidificationMolecular mechanism of pancreatic and salivary gland fluid and HCO3 secretionNa+-H+ exchanger-1 (NHE1) regulation in kidney proximal tubuleMolecular basis of ocular abnormalities associated with proximal renal tubular acidosisTargeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosisRegulation of pH During AmelogenesisNBCe1A dimer assemble visualized by bimolecular fluorescence complementationWhole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersNa-coupled bicarbonate transporters of the solute carrier 4 family in the nervous system: function, localization, and relevance to neurologic function.Blindness caused by deficiency in AE3 chloride/bicarbonate exchanger.Organization of the pronephric kidney revealed by large-scale gene expression mapping.Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.NBCe1 as a model carrier for understanding the structure-function properties of Na⁺ -coupled SLC4 transporters in health and disease.Role of an extracellular loop in determining the stoichiometry of Na+-HCO₃⁻ cotransporters.Proximal renal tubular acidosis in TASK2 K+ channel-deficient mice reveals a mechanism for stabilizing bicarbonate transportThe SLC4 family of bicarbonate (HCO₃⁻) transporters.A practical approach to genetic hypokalemia.Bicarbonate transport proteins.Amelogenesis imperfecta: genotype-phenotype studies in 71 families.Rescue of the temperature-sensitive, autosomal-recessive mutation R298S in the sodium-bicarbonate cotransporter NBCe1-A characterized by a weakened dimer and abnormal aggregation.IRBIT Interacts with the Catalytic Core of Phosphatidylinositol Phosphate Kinase Type Iα and IIα through Conserved Catalytic Aspartate Residues.Sodium coupled bicarbonate transporters in the kidney, an update.Requirements for ion and solute transport, and pH regulation during enamel maturation.The role of aspartic acid residues 405 and 416 of the kidney isotype of sodium-bicarbonate cotransporter 1 in its targeting to the plasma membrane.Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.NBCe1 expression is required for normal renal ammonia metabolism.Electrogenic Na/HCO3 cotransporter (NBCe1) variants expressed in Xenopus oocytes: functional comparison and roles of the amino and carboxy termini.pH-sensitive self-associations of the N-terminal domain of NBCe1-A suggest a compact conformation under acidic intracellular conditions.Structure and Function of SLC4 Family [Formula: see text] Transporters.Acid-Base HomeostasisSLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models.Proximal renal tubular acidosis in pregnancy. A case report and literature review.Cation-coupled bicarbonate transporters
P2860
Q24293420-757CB538-7C54-4E3E-88CD-B7D5FFA42912Q24338331-DB93AF5D-7857-4A83-A62E-11519A4F0FE6Q24613358-D07A1029-E180-4131-9DC5-CBB29C0137DFQ24632773-41CB70C2-9EDF-40DE-9189-B67C8DD03980Q24647057-570487ED-AABC-440F-93A9-1B0F949F7E6AQ26821934-41641C26-322F-48A4-831A-F09300B6A973Q26823086-46E83D4F-B6CE-427A-8DC3-0DAED7651906Q26852694-5F8806E7-4ECF-4F64-81EA-10A364C14633Q27024913-A42DCFF4-5FA6-4B2A-B208-8181915C5629Q28343416-1FA041D1-7A2A-427D-9B9F-F0F955CB5636Q28513275-A42E9148-3202-4EFA-8DDF-5FEF3F91091DQ28749222-337D9C43-BCC9-4556-BEB0-F4BF68DB2839Q30358469-F67477E2-3AC2-418F-984D-3A4B7ED4F9BBQ30375178-6ABCAE07-6C3B-43A8-84F5-C60C036A6092Q30440948-0F9B02A3-BE92-4387-805C-C72B534DB69CQ30471906-D6199351-E6E1-4EF6-89FF-6757736FBBF0Q33296999-FCDB6964-3090-407F-AF54-55309FF313DEQ33336226-991D1869-743F-4BDF-8DBD-ABFE3258C0EFQ33856730-2890E308-5533-4F91-889C-7CD482F0C734Q33894132-33954805-DF68-4C51-B1BB-B9FE8671A776Q34158447-8DBDF049-CED7-4950-8A4F-619B9555F0C2Q34332725-2B5D7941-3678-4337-9927-72025B28DE3CQ34333694-72385C2C-EA65-4DE1-AE2D-3C1069863084Q34584743-E7FF391C-E6F3-4612-85D0-3ABD2C112AD6Q35003109-ADC879FD-D4B2-4532-8DC7-767F0FA385AFQ35226566-3B5C3610-9D2A-4991-BA46-038A8534790DQ35583441-6136555B-7CD4-4C95-BBA0-BEBDB0510FFCQ35824341-9AB77C47-E04F-4F4A-AAFF-1768A5EC2477Q35850547-A79D344A-A624-4003-95B2-98B9596DF662Q36026725-0401C59A-BC13-4F55-A8F6-4D293F0DF7FDQ36041905-8C81DB45-FF7D-4273-AC50-CD08E14FD15BQ36095457-A60BE9AC-B185-47F2-9CD1-DEFAA0058263Q36122791-EAE20CAE-EAE0-4B91-967E-ED4C472B3E1AQ36295727-80813AA7-E99C-472D-B13A-3431C6E7AA84Q36328803-DA005389-1EC7-4759-9BC6-1E2C7408A44EQ36333222-B6755FD0-0BB9-49D9-97C6-9BE0ED9ECF2EQ36349470-FEC589BD-D8DA-4ED3-8301-1F4CA271F505Q36388616-C94CE9CC-52EB-4C5E-93E1-6C1971D2A135Q36562574-85E438A3-989C-4C26-81C2-392084FB05CDQ36623416-33371CFC-DDEC-4415-ABE7-063B1A4F1AF1
P2860
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@ast
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@en
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@nl
type
label
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@ast
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@en
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@nl
prefLabel
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@ast
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@en
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@nl
P2093
P3181
P356
P1433
P1476
Mutations in SLC4A4 cause perm ...... osis with ocular abnormalities
@en
P2093
K Tsukamoto
M Shimadzu
M Shiobara
T Igarashi
P2888
P3181
P356
10.1038/15440
P407
P577
1999-11-01T00:00:00Z