Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns

Autor: Rufino Mondejar, Francisca Solano, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas, Mercedes Delgado

Publikováno v: Genes & Genomics. 38:879-889

Cerebral cavernous malformations (CCM) are vascular lesions, which occur sporadically or following an autosomal dominant inheritance pattern with variable expression and incomplete penetrance. Three genes have been associated with the disease (CCM1,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c7ec1a71c2bfc186762f54bce503d338
https://doi.org/10.1007/s13258-016-0435-1

Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy’s disease)

Autor: Carmen Fernandez, Elizabeth Pintado, Carmen Paradas, Fátima Carrillo, Juan Bautista, Miguel Lucas, Francisca Solano

Publikováno v: Journal of Neurology. 255:853-857

We examined families with a history of spinal and bulbar muscular atrophy (SBMA) and found that six out of eight female carriers had a skewed inactivation of the wild-type chromosome. Under these genetic conditions, disease manifestations should be e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2c9a3294b5c082df886d917530616af
https://doi.org/10.1007/s00415-008-0766-1

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

Autor: Teresa Vendrell, Guillermo Izquierdo, Francisca Solano, Rufino Mondejar, Antonio González-Meneses, Amalia Martinez-Mir, Miguel Lucas, Mercedes Delgado, Rocio Rubio, Ángel Pérez-Sempere

Publikováno v: PLoS ONE
PLoS ONE, Vol 9, Iss 1, p e86286 (2014)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC

[Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.
[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af79184cfa290bd57fe86619ccebece

Germline mutations in theCCM1 gene, encoding Krit1, cause cerebral cavernous malformations

Autor: Alzenira F. Costa, Francisca Solano, Marı́a D Zayas, Mariano Montori, Miguel Lucas, Guillermo Izquierdo

Publikováno v: Annals of Neurology. 49:529-532

Mutations in the Kritl gene have been recently discovered as the cause of hereditary cerebral cavernous angioma. We sought the possibility that de novo, noninherited mutations of Kritl also cause cavernous angioma. A patient with two cerebral malform

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8b9224369d4f1b7b89b867d92c26fb8f
https://doi.org/10.1002/ana.105

Protein kinase C activation promotes cell survival in mature lymphocytes prone to apoptosis

Autor: Francisca Solano, Víctor Sánchez-Margalet, Miguel Lucas, Aureo Sanz

Publikováno v: Biochemical Pharmacology. 47:667-672

The putative protein kinase C (PKC) inhibitors polymyxin B and staurosporine were used to test the influence of PKC activity on the viability of lymphocytes. The cytotoxic effect of polymyxin B was characterized and it was found to be both time and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d64c9c59e1843ae26225d6bdc1d93d
https://doi.org/10.1016/0006-2952(94)90129-5