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Advanced Search Results For "Widmeier E"

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 "Widmeier E"
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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Publication Type:Academic Journal

Source(s):Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

Abstract:Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of...

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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Publication Type:Academic Journal

Source(s):Nature Communications; 5/17/2018, Vol. 9 Issue 1, p1-14, 14p

Abstract:Copyright of Nature Communications is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, ...

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aPKCλ/ι and aPKCζ contribute to podocyte differentiation and glomerular maturation.

Publication Type:Academic Journal

Source(s):Journal of the American Society of Nephrology (JASN); 2013 Feb, Vol. 24 Issue 2, p253-267, 15p

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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Publication Type:Periodical

Source(s):Nature Genetics; October 2017, Vol. 49 Issue: 10 p1529-1538, 10p

Abstract:Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3...

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Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.

Publication Type:Academic Journal

Source(s):Science Advances. Jan2021, Vol. 7 Issue 1, p1-16. 16p.

Abstract:The article presents research report on recessive Nitric oxide synthase 1 adaptor protein (NOS1AP) variants impair actin remodeling and cause glomerulopathy in humans and mice. Topics include aberrant organoid glomerulogenesis, and lead to a glomerulop...

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Publication Type:Academic Journal

Source(s):Journal of Clinical Investigation. Mar2017, Vol. 127 Issue 3, p912-928. 17p. 2 Charts, 5 Graphs.

Abstract:Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in...

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Extracorporeal membrane oxygenation during the first three waves of the coronavirus disease 2019 pandemic-A retrospective single-center registry study.

Publication Type:Academic Journal

Source(s):Artificial organs [Artif Organs] 2022 Apr 22. Date of Electronic Publication: 2022 Apr 22.

Abstract:Background: Despite increasing knowledge about the optimal treatment for patients with severe COVID-19, data from different cohorts suggested that survival of patients treated with ECMO seemed to decline over the course of the pandemic.Methods: In this...

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