Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis.
about
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisA nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndromeLysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophyLysosomal integral membrane protein-2: a new player in lysosome-related pathologyTubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2Partial requirement of endothelin receptor B in spiral ganglion neurons for postnatal development of hearingLead roles for supporting actors: critical functions of inner ear supporting cellsThe LIMP-2/SCARB2 binding motif on acid β-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.Increased expression of lysosome membrane protein 2 in glomeruli of patients with idiopathic membranous nephropathy.Regulation of BK-α expression in the distal nephron by aldosterone and urine pH.The KCNE Tango - How KCNE1 Interacts with Kv7.1.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.SCARB2/LIMP-2 Regulates IFN Production of Plasmacytoid Dendritic Cells by Mediating Endosomal Translocation of TLR9 and Nuclear Translocation of IRF7.Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.Deficiency of sphingomyelin synthase-1 but not sphingomyelin synthase-2 causes hearing impairments in mice.Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.Radix astragali inhibits the down-regulation of connexin 26 in the stria vascularis of the guinea pig cochlea after acoustic trauma.LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.Co-deficiency of Lysosomal Mucolipins 3 and 1 in Cochlear Hair Cells Diminishes Outer Hair Cell Longevity and Accelerates Age-Related Hearing Loss.
P2860
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P2860
Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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name
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@en
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@nl
type
label
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@en
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@nl
prefLabel
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@en
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@nl
P2093
P2860
P1476
Deafness in LIMP2-deficient mi ...... cells of the stria vascularis.
@en
P2093
Cathrin Claussen
Jenny Schröder
Lukas Rüttiger
Marlies Knipper
Paul Saftig
Renate Lüllmann-Rauch
Ulrike Zimmermann
P2860
P356
10.1113/JPHYSIOL.2006.116889
P407
P577
2006-08-10T00:00:00Z