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Your search keyword '"Ballesta-Martínez, Maria Juliana"' showing total 14 results
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14 results on '"Ballesta-Martínez, Maria Juliana"'

6. Further refinement of COL4A1 and COL4A2 related cortical malformations

Author

Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, and Bahi-Buisson, Nadia

Published
2018
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10. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Author

Bullich, Gemma, primary, Domingo-Gallego, Andrea, additional, Vargas, Iván, additional, Ruiz, Patricia, additional, Lorente-Grandoso, Laura, additional, Furlano, Mónica, additional, Fraga, Gloria, additional, Madrid, Álvaro, additional, Ariceta, Gema, additional, Borregán, Mar, additional, Piñero-Fernández, Juan Alberto, additional, Rodríguez-Peña, Lidia, additional, Ballesta-Martínez, Maria Juliana, additional, Llano-Rivas, Isabel, additional, Meñica, Mireia Aguirre, additional, Ballarín, José, additional, Torrents, David, additional, Torra, Roser, additional, and Ars, Elisabet, additional

Published
2018
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11. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Author

Ceroni, Fabiola, Aguilera-Garcia, Domingo, Chassaing, Nicolas, Bax, Dorine Arjanne, Blanco-Kelly, Fiona, Ramos, Patricia, Tarilonte, Maria, Villaverde, Cristina, da Silva, Luciana Rodrigues Jacy, Ballesta-Martínez, Maria Juliana, Sanchez-Soler, Maria Jose, Holt, Richard James, Cooper-Charles, Lisa, Bruty, Jonathan, Wallis, Yvonne, McMullan, Dominic, Hoffman, Jonathan, Bunyan, David, Stewart, Alison, and Stewart, Helen

Subjects
MEMBRANE proteins, MISSENSE mutation, PHENOTYPES, MICROPHTHALMIA, APHAKIA, RECESSIVE genes, CRYSTALLINE lens, EXOMES
Abstract

GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p.(Thr39Arg), p.(Trp45Leu), p.(Asp51Asn), and p.(Gly94Arg)] and two novel [p.(Phe70Leu) and p.(Val97Gly)] likely pathogenic variants in seven families. Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma. Four missense variants of unknown or unlikely clinical significance were also identified. Furthermore, the screening of GJA8 structural variants in a subgroup of 188 individuals identified heterozygous 1q21 microdeletions in five families with coloboma and other ocular and/or extraocular findings. However, the exact genotype–phenotype correlation of these structural variants remains to be established. Our data expand the spectrum of GJA8 variants and associated phenotypes, confirming the importance of this gene in early eye development. [ABSTRACT FROM AUTHOR]

Published
2019
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