Elisabet Ars
Overview
Explore the profile of Elisabet Ars including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
78
Citations
1820
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Jawaid T, Elbarougy D, Lavu S, Buia G, Senum S, Olinger E, et al.
J Am Soc Nephrol
. 2025 Feb;
PMID: 39899384
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited nephropathy often resulting in kidney failure. It is genetically heterogeneous; along with the major genes, PKD1 and PKD2, at...
2.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer J, et al.
Am J Kidney Dis
. 2024 Dec;
PMID: 39732359
Rationale & Objective: Monoallelic predicted loss-of-function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study enhanced the characterization of this...
3.
Fraga G, Herreros M, Pybus M, Aza-Carmona M, Pilco-Teran M, Furlano M, et al.
Genes (Basel)
. 2024 Jun;
15(6).
PMID: 38927615
X-linked hypophosphatemia (XLH) is a rare inherited disorder of renal phosphate wasting with a highly variable phenotype caused by loss-of-function variants in the gene. The diagnosis of individuals with mild...
4.
Furlano M, Pilco-Teran M, Pybus M, Martinez V, Aza-Carmona M, Rius Peris A, et al.
Nephrol Dial Transplant
. 2024 Feb;
39(9):1442-1448.
PMID: 38317457
Background: Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3/COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4-related disorder) is huge; many individuals are asymptomatic...
5.
Kiryluk K, Sanchez-Rodriguez E, Zhou X, Zanoni F, Liu L, Mladkova N, et al.
Nat Genet
. 2023 Jun;
55(7):1091-1105.
PMID: 37337107
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-diagnosed IgAN cases and 28,751...
6.
Ortiz A, Ars E, Bernis C, Fraga G, Furlano M, Martinez V, et al.
Nefrologia (Engl Ed)
. 2023 May;
43(1):152-153.
PMID: 37217372
No abstract available.
7.
Furlano M, Ars E, Matamala A, Brossa V, Marti J, Del Prado-Venegas M, et al.
Case Rep Genet
. 2023 Jan;
2022:3208810.
PMID: 36619006
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from...
8.
Ars E, Bernis C, Fraga G, Furlano M, Martinez V, Martins J, et al.
Nefrologia (Engl Ed)
. 2022 Nov;
42(4):367-389.
PMID: 36404270
Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent cause of genetic renal disease and accounts for 6-10% of patients on kidney replacement therapy (KRT). Very few prospective, randomized...
9.
Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier M, Carbonell A, Moreno-Mendoza D, et al.
Am J Hum Genet
. 2022 Jul;
109(8):1458-1471.
PMID: 35809576
Although the evolutionary history of the X chromosome indicates its specialization in male fitness, its role in spermatogenesis has largely been unexplored. Currently only three X chromosome genes are considered...
10.
Savige J, Renieri A, Ars E, Daga S, Pinto A, Rothe H, et al.
Clin J Am Soc Nephrol
. 2022 Jun;
17(11):1697-1706.
PMID: 35675912
Digenic Alport syndrome refers to the inheritance of pathogenic variants in plus or or in plus Where digenic Alport syndrome includes a pathogenic variant, the consequences depend on the sex...