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Bartter syndrome, infantile, with sensorineural deafness

Bart, barttin, BSND
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Barr, CAN, ClC-Kb, HAD, miR
Papers using Bart antibodies
CLIP: construction of cDNA libraries for high-throughput sequencing from RNAs cross-linked to proteins in vivo
Lander Eric S. et al., In Nature, 2008
... study, Peter Tsang, Bo Curry, Anya Tsalenko, and Agilent Technologies for microarray and technical help, Bart Challis and Active Motif for antibodies, Gary Geiss, ...
Papers on Bart
Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
Fahlke et al., Jülich, Germany. In J Biol Chem, Jan 2016
We found that W610X leaves the association of hClC-Kb and the accessory subunit barttin unaffected, but impairs its regulation by barttin.
Epstein-Barr virus mir-bart1-5p detection via nasopharyngeal brush sampling is effective for diagnosing nasopharyngeal carcinoma.
Jia et al., Guangzhou, China. In Oncotarget, Jan 2016
Using quantitative RT-PCR, we detected four EBV-encoded BamHI A rightward transcript (BART) miRNAs (mir-bart1-5p, mir-bart5, mir-bart6-5p and mir-bart17-5p) exclusively in 53 NPC biopsies as compared to 69 controls.
When performance and risk taking are related: Working for rewards is related to risk taking when the value of rewards is presented briefly.
Bijleveld et al., Nijmegen, Netherlands. In Brain Cogn, Dec 2015
Furthermore, responsiveness of the dopamine system was indirectly estimated with a measure of risk taking, the Balloon Analogue Risk Task (BART).
Adult presentation of Bartter syndrome type IV with erythrocytosis.
Calado et al., São Paulo, Brazil. In Einstein (sao Paulo), Dec 2015
Bartter syndrome type IV, caused by loss-of-function mutations in barttin, a subunit of chloride channel CLC-Kb expressed in the kidney and inner ear, usually occurs in the antenatal-neonatal period.
The Epstein-Barr Virus BART miRNA Cluster of the M81 Strain Modulates Multiple Functions in Primary B Cells.
Delecluse et al., Heidelberg, Germany. In Plos Pathog, Dec 2015
EBV encodes 22 microRNAs (miRNAs) that form a cluster within the BART region of the virus and have been previously been found to stimulate tumor cell growth.
The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function.
Wittinghofer et al., Dortmund, Germany. In Structure, Dec 2015
Biochemical and structural analyses reveal that the protein contains a BART-like domain and is called BARTL1.
Update on Epstein-Barr virus and gastric cancer (review).
Fukayama et al., Tokyo, Japan. In Int J Oncol, Apr 2015
EBVaGC belongs to latency type I or II, in which EBERs, EBNA-1, BARTs, LMP-2A and BART miRNAs are expressed.
The role of Epstein-Barr virus infection in the pathogenesis of nasopharyngeal carcinoma.
Tsao et al., Hong Kong, Hong Kong. In Virol Sin, Apr 2015
Establishment of latent EBV infection in premalignant nasopharyngeal epithelial cells and expression of latent viral genes, including the BART transcripts and BART-encoded microRNAs, are crucial features of NPC.
The role of Epstein-Barr virus in epithelial malignancies.
Lo et al., Hong Kong, Hong Kong. In J Pathol, 2015
The BamH1 A rightwards transcripts (BARTs) and the BART-encoded microRNAs (miR-BARTs) are highly expressed in EBV-associated epithelial malignancies and may induce malignant transformation.
Profiling of EBV-Encoded microRNAs in EBV-Associated Hemophagocytic Lymphohistiocytosis.
Shen et al., Beijing, China. In Tohoku J Exp Med, 2014
Here, we aimed to profile the expression of EBV-miRNAs in children with EBV-HLH by analyzing 44 known EBV-miRNAs, encoded within the BamHI fragment H rightward open reading frame 1 (BHRF1) and the BamHI-A region rightward transcript (BART), in plasma and cellular targets by real-time quantitative PCR.
Decreased modulation by the risk level on the brain activation during decision making in adolescents with internet gaming disorder.
Zhang et al., Tianjin, China. In Front Behav Neurosci, 2014
In this study, 23 adolescents with IGD and 24 healthy controls (HCs) without IGD were recruited, and the balloon analog risk task (BART) was used in a functional magnetic resonance imaging experiment to evaluate the modulation of the risk level (the probability of balloon explosion) on brain activity during risky decision making in IGD adolescents.
Genetics of Epstein-Barr virus microRNAs.
Delecluse et al., Heidelberg, Germany. In Semin Cancer Biol, 2014
The Epstein-Barr virus encodes at least 44 microRNAs that are grouped in two clusters located around the BHRF1 gene and within the BART transcript.
CLC channel function and dysfunction in health and disease.
Fahlke et al., Jülich, Germany. In Front Physiol, 2013
Whereas barttin is mandatory for the functional expression of ClC-K, GlialCam is a facultative subunit of ClC-2 which modifies gating and thus increases the functional variability within the CLC family.
BART inhibits pancreatic cancer cell invasion by Rac1 inactivation through direct binding to active Rac1.
Saibara et al., Kōchi, Japan. In Neoplasia, 2012
Our results imply that BART regulates actin-cytoskeleton rearrangements at membrane ruffles through modulation of the activity of Rac1, which, in turn, inhibits pancreatic cancer cell invasion.
BART inhibits pancreatic cancer cell invasion by PKCα inactivation through binding to ANX7.
Saibara et al., Kōchi, Japan. In Plos One, 2011
These results imply that BART contributes to regulating PKCalpha activity through binding to ANX7, thereby affecting the invasiveness of pancreatic cancer cells.
BART inhibits pancreatic cancer cell invasion by inhibiting ARL2-mediated RhoA inactivation.
Saibara et al., Kōchi, Japan. In Int J Oncol, 2011
Our results imply that BART increases active RhoA by inhibiting ARL2 function, which in turn inhibits invasiveness of cancer cells.
A novel persistence associated EBV miRNA expression profile is disrupted in neoplasia.
Thorley-Lawson et al., Boston, United States. In Plos Pathog, 2011
We identify a subset of BART miRNAs that are restricted to Latency III in normal infection but are up regulated in tumors that express Latency I and II.
The N-terminal domain of G3BP enhances cell motility and invasion by posttranscriptional regulation of BART.
Hollingsworth et al., Omaha, United States. In Mol Cancer Res, 2011
overexpression of the amino (N)-terminal region of G3BP, including the binding region for BART mRNA, dominant-negatively inhibits formation of the complex between endogenous G3BP and BART mRNA, and increases the expression of BART.
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.
Jentsch et al., Hamburg, Germany. In Nature, 2001
The gene encoding the integral membrane protein barttin is mutated in a form of Bartter's syndrome that is associated with congenital deafness and renal failure.
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Hildebrandt et al., Freiburg, Germany. In Nat Genet, 2001
A gene locus of a fourth variant of aBS called BSND, which in contrast to the other forms is associated with sensorineural deafness (SND) and renal failure, has been mapped to chromosome 1p.
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