Horia C Stanescu
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Explore the profile of Horia C Stanescu including associated specialties, affiliations and a list of published articles.
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31
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1615
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Recent Articles
1.
Ben-Ruby D, Atias-Varon D, Kagan M, Chowers G, Shlomovitz O, Slabodnik-Kaner K, et al.
Clin Kidney J
. 2025 Feb;
18(2):sfae397.
PMID: 39927257
Background And Hypothesis: The two apolipoprotein L1 () variants, G1 and G2, are common in populations of sub-Saharan African ancestry. Individuals with two of these alleles (G1 or G2) have...
2.
Sadeghi-Alavijeh O, Chan M, Doctor G, Voinescu C, Stuckey A, Kousathanas A, et al.
J Clin Invest
. 2024 Aug;
134(19).
PMID: 39190485
BACKGROUNDCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and...
3.
Voinescu C, Mozere M, Genovese G, Downie M, Gupta S, Gale D, et al.
Kidney Int
. 2024 Feb;
105(4):791-798.
PMID: 38367960
Class 2 HLA and PLA2R1 alleles are exceptionally strong genetic risk factors for membranous nephropathy (MN), leading, through an unknown mechanism, to a targeted autoimmune response. Introgressed archaic haplotypes (introduced...
4.
Downie M, Gupta S, Voinescu C, Levine A, Sadeghi-Alavijeh O, Dufek-Kamperis S, et al.
Kidney Int Rep
. 2023 Aug;
8(8):1562-1574.
PMID: 37547536
Introduction: Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of kidney disease in children worldwide. Genome-wide association studies (GWAS) have demonstrated the association of SSNS with genetic variation at...
5.
Chan M, Sadeghi-Alavijeh O, Lopes F, Hilger A, Stanescu H, Voinescu C, et al.
Elife
. 2022 Sep;
11.
PMID: 36124557
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association...
6.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, et al.
J Am Soc Nephrol
. 2022 Feb;
33(4):732-745.
PMID: 35149593
Background: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors...
7.
Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, et al.
Nat Commun
. 2020 Apr;
11(1):1600.
PMID: 32231244
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East...
8.
Dufek S, Cheshire C, Levine A, Trompeter R, Issler N, Stubbs M, et al.
J Am Soc Nephrol
. 2019 Jul;
30(8):1375-1384.
PMID: 31263063
Background: Steroid-sensitive nephrotic syndrome (SSNS), the most common form of nephrotic syndrome in childhood, is considered an autoimmune disease with an established classic HLA association. However, the precise etiology of...
9.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, et al.
Nature
. 2019 Jun;
571(7763):107-111.
PMID: 31217582
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show...
10.
Reichold M, Klootwijk E, Reinders J, Otto E, Milani M, Broeker C, et al.
J Am Soc Nephrol
. 2018 Apr;
29(7):1849-1858.
PMID: 29654216
For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney...