Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
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The endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner earLoss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockoutsA causative link between inner ear defects and long-term striatal dysfunction.The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureA trans-acting protein effect causes severe eye malformation in the Mp mouseFailure of spermatogenesis in mouse lines deficient in the Na(+)-K(+)-2Cl(-) cotransporterSlc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.Potassium ion movement in the inner ear: insights from genetic disease and mouse modelsGenetics of auditory mechano-electrical transduction.A major effect QTL on chromosome 18 for noise injury to the mouse cochlear lateral wallConnexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.Immunohistochemical localization and mRNA expression of aquaporins in the macula utriculi of patients with Meniere's disease and acoustic neuroma.Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.Orphan glutamate receptor delta1 subunit required for high-frequency hearing.Genome-wide scans for candidate genes involved in the aquatic adaptation of dolphins.Differential expression of genes within the cochlea as defined by a custom mouse inner ear microarray.NKCC1 (SLC12a2) induces a secondary axis in Xenopus laevis embryos independently of its co-transporter function.Science, medicine, and the future: New interventions in hearing impairment.A new spontaneous mouse mutation in the Kcne1 geneDeafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.Localization and proteomic characterization of cholesterol-rich membrane microdomains in the inner ear.The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene.Computational model of vectorial potassium transport by cochlear marginal cells and vestibular dark cells.Application of physiological genomics to the study of hearing disorders.Altered GABA signaling in early life epilepsies.Mice lacking NKCC1 are protected from development of bacteremia and hypothermic sepsis secondary to bacterial pneumoniaMice lacking NKCC1 have normal olfactory sensitivity.Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential.Molecular and physiological bases of the K+ circulation in the mammalian inner ear.COMMD1 interacts with the COOH terminus of NKCC1 in Calu-3 airway epithelial cells to modulate NKCC1 ubiquitination.A genetic approach to understanding inner ear function.Ocular phenotype of Fbn2-null mice.A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.Physiology and pathophysiology of SLC12A1/2 transporters.Maintenance and regulation of extracellular volume and the ion environment in Drosophila larval nerves.Six1: a critical transcription factor in tumorigenesis.Drosophila glia use a conserved cotransporter mechanism to regulate extracellular volumeNkcc1 (Slc12a2) is required for the regulation of endolymph volume in the otic vesicle and swim bladder volume in the zebrafish larva.
P2860
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P2860
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@en
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@nl
type
label
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@en
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@nl
prefLabel
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@en
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@nl
P2093
P2860
P356
P1476
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.
@en
P2093
P2860
P304
P356
10.1093/HMG/8.8.1579
P577
1999-08-01T00:00:00Z