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Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research.
J Physiol. 2017 Aug 15;595(16):5403-5404. doi: 10.1113/JP274645. Epub 2017 Jul 7.
2
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1324-34. doi: 10.1152/ajprenal.00004.2015. Epub 2015 Mar 25.
4
Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.
Histochem Cell Biol. 2003 Jun;119(6):485-93. doi: 10.1007/s00418-003-0535-2. Epub 2003 May 22.
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Generation and analyses of R8L barttin knockin mouse.
Am J Physiol Renal Physiol. 2011 Aug;301(2):F297-307. doi: 10.1152/ajprenal.00604.2010. Epub 2011 May 18.
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A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.
Pediatr Nephrol. 2005 Jul;20(7):891-6. doi: 10.1007/s00467-005-1867-z. Epub 2005 May 5.
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[Bartter's syndrome].
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Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.
J Physiol. 2017 Aug 15;595(16):5573-5586. doi: 10.1113/JP274344. Epub 2017 Jun 27.
3
Structure of a CLC chloride ion channel by cryo-electron microscopy.
Nature. 2017 Jan 26;541(7638):500-505. doi: 10.1038/nature20812. Epub 2016 Dec 21.
4
Targeting kidney CLC-K channels: pharmacological profile in a human cell line versus Xenopus oocytes.
Biochim Biophys Acta. 2014 Oct;1838(10):2484-91. doi: 10.1016/j.bbamem.2014.05.017. Epub 2014 May 24.
5
Barttin modulates trafficking and function of ClC-K channels.
Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11411-6. doi: 10.1073/pnas.0601631103. Epub 2006 Jul 18.

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