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- 저자 : Miguel Lucas (검색결과 3 건)
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Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns
Miguel Lucas,Rufino Mondejar,Mercedes Delgado,Francisca Solano,Guillermo Izquierdo,Amalia Martinez-Mir 한국유전학회 2016 Genes & Genomics Vol.38 No.9
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, CCM2 and CCM3). CCM1 has been reported to express atypical transcripts in addition to alternative splicing of non-coding exons. Here, we report the identification of novel alternative splicing events in the CCM1 gene. 50RACE analysis revealed several transcription start sites, novel exons located in introns 2 and 7, and a larger exon 13. The 50UTR CCM1 region showed at least eight splicing variants which were differentially transcribed. The results shown here expand our knowledge of CCM1 gene expression, which seems to be more complex than previously reported. The novel minor-form exons herein described should be considered in molecular diagnosis of CCM. These findings support new functional transcript sequences that could be considered in the pathogenesis and variable clinical penetrance of Krit1-linked CCMs.
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Marco Stoller,Javier Miguel Ochando Pulido,Luca Di Palma,Antonio Martinez Ferez 한국공업화학회 2015 Journal of Industrial and Engineering Chemistry Vol.30 No.-
In this work, the benefit of using photocatalysis as a pretreatment step for a subsequent olive millwastewater (OMW) treatment process by membranes will be discussed. Membrane processes appear to be suitable to purify aqueous wastewater streams polluted by organicmatter such as OMW, but suffer severe fouling. In order to avoid fouling, the use of operating conditionsbelow the boundary flux is suggested. The problem is that in many cases, boundary flux values areextremely low, making the process economically not feasible. In order to overcome this limitation,pretreatment steps are necessary to increase boundary flux values accordingly. Photocatalysis appears tobe capable to achieve these requirements: on one hand, the process is capable to reduce the organic loadof the feedstock and on the other hand, particle size distributions of the suspended organic matter arechanged. Both principles are known in literature to lead to boundary flux value changes. In this paper the authors report the obtained results of the experimental work concerningphotocatalysis and membrane performances.
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Rufino Mondejar,Jose Manuel Garcia-Moreno,Rocio Rubio,Francisca Solano,Mercedes Delgado,Begona Garcia-Bravo,Juan Jose Rios-Martin,Amalia Martinez-Mir,Miguel Lucas 대한신경과학회 2014 Journal of Clinical Neurology Vol.10 No.1
Background Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized bya hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). Case Report This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to nonconsanguineous parents developed dermatologicaland extracutaneous symptoms in her 9th month of life. The neurological abnormalities of thedisease began to appear at the age of 19 years. Computed tomography revealed cranial calcifications. Conclusions The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations.
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