Heterozygous Mutations of The Gene for Kir 1.1 (<i>ROMK</i>) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia, Evolving to a Benign Course

Cho, Jong Tae; Guay‐Woodford, Lisa M.

doi:10.3346/jkms.2003.18.1.65

Cited by 12 publications

(12 citation statements)

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“…6). Transient neonatal hyperkalemia with salt wasting, hyponatremia, and hyporeninemic hyperaldosteronism, mimicking pseudohypoaldosteronism type 1, has been seen in some individuals with ROMK Bartter's syndrome (81,148). This transient hyperkalemic phenotype is consistent with the role of ROMK in forming the 35-pS K ϩ channels in both TAL and principal cells.…”

Section: Bartter's Syndrome: a Tal Tubulopathymentioning

confidence: 98%

Molecular Diversity and Regulation of Renal Potassium Channels

Hebert¹,

Desir²,

Giebisch³

et al. 2005

Physiological Reviews

290

300

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K(+) channels are widely distributed in both plant and animal cells where they serve many distinct functions. K(+) channels set the membrane potential, generate electrical signals in excitable cells, and regulate cell volume and cell movement. In renal tubule epithelial cells, K(+) channels are not only involved in basic functions such as the generation of the cell-negative potential and the control of cell volume, but also play a uniquely important role in K(+) secretion. Moreover, K(+) channels participate in the regulation of vascular tone in the glomerular circulation, and they are involved in the mechanisms mediating tubuloglomerular feedback. Significant progress has been made in defining the properties of renal K(+) channels, including their location within tubule cells, their biophysical properties, regulation, and molecular structure. Such progress has been made possible by the application of single-channel analysis and the successful cloning of K(+) channels of renal origin.

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Section: Bartter's Syndrome: a Tal Tubulopathymentioning

confidence: 98%

Molecular Diversity and Regulation of Renal Potassium Channels

Hebert¹,

Desir²,

Giebisch³

et al. 2005

Physiological Reviews

290

300

View full text Add to dashboard Cite

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“…KCNJ1 mutation could lead to antenatal Bartter syndrome, which is characterized by hypokalemic alkalosis, hypercalciuria, salt wasting, and low blood pressure [12][13][14][15]. In Karnes's study on African-American showed that KCNJ1 single nucleotide polymorphisms (SNPs) and haplotypes are associated with thiazide-induced dysglycemia and new onset diabetes (strongest association: OR=2.14) [16].…”

Section: Introductionmentioning

confidence: 98%

KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma

Guo

Liu

et al. 2014

Tumor Biol.

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Potassium inwardly rectifying channel, subfamily J, member 1 (KCNJ1), as an ATP-dependent potassium channel, plays an essential role in potassium balance. KCNJ1 variation is associated with multiple diseases, such as antenatal Bartter syndrome and diabetes. However, the role of KCNJ1 in clear cell renal cell carcinoma (ccRCC) is still unknown. Here, we studied the expression and function of KCNJ1 in ccRCC. The expression of KCNJ1 was evaluated in ccRCC tissues and cell lines by quantitative real-time PCR (qRT-PCR), Western blot, and immunohistochemistry analysis. The relationship between KCNJ1 expression and clinicopathological characteristics was analyzed. p3xFLAG-CMV-14 vector containing KCNJ1 was constructed and used for transfecting ccRCC cell lines 786-O and Caki-2. The effects of KCNJ1 on cell proliferation, invasion, and apoptosis were detected in ccRCC cell lines using cell proliferation assay, transwell assay, and flow cytometry, respectively. We found that KCNJ1 was low-expressed in ccRCC tissues samples and cell lines, and its expression level was significantly associated with tumor pathology grade (P = 0.002) and clinical stage (P = 0.023). Furthermore, the KCNJ1 expression was a prognostic factor of ccRCC patient's survival (P = 0.033). The re-expression of KCNJ1 in 786-O and Caki-2 significantly inhibited cancer cell growth and invasion and promoted cancer cell apoptosis. Moreover, knockdown of KCNJ1 in HK-2 cells promoted cell proliferation. Collectively, these data highlight that KCNJ1, low-expressed in ccRCC and associated with poor prognosis, plays an important role in ccRCC cell growth and metastasis.

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“…Mutational analysis of the KCNJ1 gene revealed novel mutation. Cho and GuayWoodford [6] also reported a baby who mimicked pesudohypoaldosteronism in the neonatal period; a correct diagnosis was established after detection of mutation in the ROMK.…”

Section: Discussionmentioning

confidence: 96%