Novel Variations in KIRREL1 Gene and Infantile Onset Nephrotic Syndrome.
作者信息
Abhinay Abhishek, Agarwal Aditi, Singh Ankur, Kumar Nitish
机构信息
Division of Pediatric Nephrology, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
出版信息
Indian J Nephrol. 2024 Sep-Oct;34(5):547-548. doi: 10.25259/IJN_55_2024. Epub 2024 Jun 4.
Abstract
摘要
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本文引用的文献
1
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016. Epub 2019 Jul 10.
2
Neph1, a component of the kidney slit diaphragm, is tyrosine-phosphorylated by the Src family tyrosine kinase and modulates intracellular signaling by binding to Grb2.
J Biol Chem. 2008 Apr 4;283(14):9177-86. doi: 10.1074/jbc.M707247200. Epub 2008 Feb 7.
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Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers.
J Biol Chem. 2003 May 23;278(21):19266-71. doi: 10.1074/jbc.M301279200. Epub 2003 Mar 19.
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NEPH1 defines a novel family of podocin interacting proteins.
FASEB J. 2003 Jan;17(1):115-7. doi: 10.1096/fj.02-0242fje. Epub 2002 Nov 1.
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