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Elisabet Ars
Researcher at Autonomous University of Barcelona
Publications - 107
Citations - 4654
Elisabet Ars is an academic researcher from Autonomous University of Barcelona. The author has contributed to research in topics: Alport syndrome & Autosomal dominant polycystic kidney disease. The author has an hindex of 38, co-authored 96 publications receiving 3907 citations. Previous affiliations of Elisabet Ars include Université catholique de Louvain & Carlos III Health Institute.
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Journal ArticleDOI
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
TL;DR: A whole NF1 cDNA screening methodology is applied to the study of 80 unrelated NF1 patients and 44 different mutations are identified, 32 being novel, in 52 of these patients, with one frameshift, two nonsense and two missense mutations responsible for alterations in mRNA splicing.
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Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations
Eduard Serra,Thorsten Rosenbaum,Ursula Winner,Rosa Aledo,Elisabet Ars,Xavier Estivill,Hans-Gerd Lenard,Conxi Lázaro +7 more
TL;DR: The idea that NF1 mutations in SCs, but not in fibroblasts, correlate to neurofibroma formation is strongly supported and it is demonstrated that only a portion of SCs in Neurofibromas have mutations in both NF1 alleles.
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Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
Eduard Serra,Susana Puig,David Otero,Antonia Gaona,H Kruyer,Elisabet Ars,Xavier Estivill,Conxi Lázaro +7 more
TL;DR: The aim of this study was the analysis of the NF1 locus in benign neurofibromas in NF1 patients, and found that in the neurof fibromas of patients from familial cases the deletions occurred in the allele that is not transmitted with the disease, indicating that both copies of theNF1 gene were inactivated in these tumors.
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Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Sheila Santín,Gemma Bullich,Bárbara Tazón-Vega,Rafael García-Maset,Isabel Giménez,Irene Silva,Patricia Ruiz,José Ballarín,Roser Torra,Elisabet Ars +9 more
TL;DR: A genetic testing algorithm for SRNS is proposed based on the age at onset and the familial/sporadic status, which suggests that mutation analysis of specific podocyte-genes has a clinical value in all age groups, especially in children.
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Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
Elisabet Ars,H Kruyer,Marta Morell,Eva Pros,Eduard Serra,Anna Ravella,Xavier Estivill,Conxi Lázaro +7 more
TL;DR: The use of techniques based on the analysis of NF1 mRNA greatly facilitated the number of mutations identified and NF1 screening efficiency, depicting a mutational NF1 spectrum, and these studies highlighted the importance of splicing defects in molecular NF1 pathology.