V
V. Nunes
Researcher at Casa Sollievo della Sofferenza
Publications - 38
Citations - 2605
V. Nunes is an academic researcher from Casa Sollievo della Sofferenza. The author has contributed to research in topics: Cystic fibrosis & Gene. The author has an hindex of 18, co-authored 38 publications receiving 2535 citations. Previous affiliations of V. Nunes include Cancer Research Institute.
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Journal ArticleDOI
Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
Miguel Chillón,Teresa Casals,Bernard Mercier,Lluís Bassas,Willy Lissens,Sherman J. Silber,Marie-Catherine Romey,Javier Ruiz-Romero,C. Verlingue,Mireille Claustres,V. Nunes,Claude Férec,Xavier Estivill +12 more
TL;DR: The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD.
Journal ArticleDOI
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Núria Morral,Jaume Bertranpetit,Xavier Estivill,V. Nunes,Teresa Casals,Javier Giménez,André Reis,R. Varon-Mateeva,Milan Macek,Milan Macek,Luba Kalaydjieva,Dora Angelicheva,R. Dancheva,Giovanni Romeo,Maria Pia Russo,S. Garnerone,Gabriella Restagno,Maurizio Ferrari,C. Magnani,Mireille Claustres,Marie Desgeorges,Marianne Schwartz,Martin Schwarz,Bruno Dallapiccola,Giuseppe Novelli,Claude Férec,M. De Arce,M. Nemeti,M. Nemeti,Juha Kere,Maria Anvret,Niklas Dahl,Ludovit Kadasi +32 more
TL;DR: Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF50 in Europe.
Journal ArticleDOI
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
David Torrents,Juha Mykkänen,Marta Pineda,Lidia Feliubadaló,Raúl Estévez,R. de Cid,P Sanjurjo,Antonio Zorzano,V. Nunes,Kirsi Huoponen,A Reinikainen,Olli Simell,M L Savontaus,Pertti Aula,Pertti Aula,Manuel Palacín +15 more
TL;DR: It is established that mutations in SLC7A7 cDNA cause Lysinuric protein intolerance, a rare, recessive disorder with a worldwide distribution, but with a high prevalence in the Finnish population.
Journal Article
A novel donor splice site in intron 11 of the CFTR gene created by mutation 1811+1.6kbA->G produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype
Miguel Chillón,Thilo Dörk,Teresa Casals,Javier Giménez,N Fonknechten,Katrin Will,D Ramos,V. Nunes,Xavier Estivill +8 more
TL;DR: In this paper, a point mutation (1811+1.6kbA-->G) was found in 21 Spanish and 1 German CF chromosomes, making it the fourth most frequent mutation (2%) in the Spanish population.
Journal ArticleDOI
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected
Teresa Casals,Lluís Bassas,J. Ruiz-Romero,Miguel Chillón,Javier Giménez,Maria D. Ramos,G. Tapia,H. Narváez,V. Nunes,Xavier Estivill +9 more
TL;DR: The failure to identify a second mutation in exons and their flanking regions of the CFTR gene suggests that these mutations could be located in introns or in the promoter region of CFTR, suggesting that factors other than CFTR mutations are involved in CBAVD.