非典型溶血尿毒综合征的早发型婴儿期发病是由DGKE基因的隐性突变引起的。 - Suppr

Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.

作者信息

Lee J W

机构信息

Department of Medical Genetics, Center for Molecular Medicine and Therapeutics, The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, V5Z4H4, Canada.

出版信息

Clin Genet. 2013 Oct;84(4):342-3. doi: 10.1111/cge.12240. Epub 2013 Aug 6.

DOI:10.1111/cge.12240

PMID:23875923

Abstract

摘要

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相似文献

Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.

Clin Genet. 2013 Oct;84(4):342-3. doi: 10.1111/cge.12240. Epub 2013 Aug 6.

DGKE and atypical HUS.

Nat Genet. 2013 May;45(5):475-6. doi: 10.1038/ng.2622.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.

Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31.

Phenotypic expansion of DGKE-associated diseases.

J Am Soc Nephrol. 2014 Jul;25(7):1408-14. doi: 10.1681/ASN.2013080886. Epub 2014 Feb 7.

A novel compound heterozygous mutation in in a Chinese patient causes atypical hemolytic uremic syndrome.

Hematology. 2020 Dec;25(1):101-107. doi: 10.1080/16078454.2020.1731969.

Genetics: Hidden intronic mutations in DGKE are causative of aHUS.

Nat Rev Nephrol. 2015 Jun;11(6):316. doi: 10.1038/nrneph.2015.68. Epub 2015 Apr 28.

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

Am J Hum Genet. 2000 May;66(5):1721-2. doi: 10.1086/302877.

Factors influencing treatment of atypical hemolytic uremic syndrome.

Clin J Am Soc Nephrol. 2014 Sep 5;9(9):1516-8. doi: 10.2215/CJN.07540714. Epub 2014 Aug 18.

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Thromb Haemost. 2015 Oct;114(4):862-3. doi: 10.1160/TH15-01-0007. Epub 2015 May 28.

Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.

Am J Physiol Renal Physiol. 2016 May 1;310(9):F895-908. doi: 10.1152/ajprenal.00431.2015. Epub 2016 Feb 17.

引用本文的文献

Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.

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J Pediatr Genet. 2016 Mar;5(1):33-42. doi: 10.1055/s-0036-1572515. Epub 2016 Feb 23.

Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.

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Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE.

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