ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1016/j.neuroscience.2008.05.030 (literal)

Alternative label

• Gianfrancesco F.; Esposito T.; Penco S.; Maglione V.; Liquori C.L.; Patrosso M.C.; Zuffardi O.; Ciccodicola A.; Marchuk D.A.; Squitieri F. (2008)
  ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations
  in Neuroscience
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Gianfrancesco F.; Esposito T.; Penco S.; Maglione V.; Liquori C.L.; Patrosso M.C.; Zuffardi O.; Ciccodicola A.; Marchuk D.A.; Squitieri F. (literal)

Pagina inizio

• 345 (literal)

Pagina fine

• 349 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 155 (literal)

Rivista

• Neuroscience (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 2 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Institute of Genetics and Biophysics, \"Adriano Buzzati Traverso,\" Italian National Research Council, Via Pietro Castellino, 111, 80131 Naples, Italy Neurogenetics Unit, IRCCS Neuromed, Localita' Camerelle 86077, Pozzilli (IS), Italy Department of Laboratory Medicine, Medical Genetics, A. O. Niguarda Ca' Granda Hospital, Milan, Italy Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy (literal)

Titolo

• ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations (literal)

Abstract

• The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM) with the identification of the CCM1, CCM2, and CCM3 genes. Recently, we have recruited a patient with an X/3 balanced translocation that exhibits CCM. By fluorescent in situ hybridization analysis, sequence analysis tools and database mining procedures, we refined the critical region to an interval of 200-kb and identified the interrupted ZPLD1 gene. We detected that the mRNA expression level of ZPLD1 gene is consistently decreased 2.5-fold versus control (P=0.0006) with allelic loss of gene expression suggesting that this protein may be part of the complex signaling pathway implicated in CCM formation. (literal)

Prodotto di

• Plasticità genomica: dal genoma ai sistemi biologici (SV.P13.003.001) (Modulo)
• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)

Autore CNR

• FERNANDO GIANFRANCESCO (Persona)
• TERESA ESPOSITO (Unità di personale interno)
• ALFREDO CICCODICOLA (Persona)

Insieme di parole chiave

• Keywords of "ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• FERNANDO GIANFRANCESCO (Persona)
• ALFREDO CICCODICOLA (Persona)
• TERESA ESPOSITO (Unità di personale interno)

Prodotto

• Istituto di genetica e biofisica \"Adriano Buzzati Traverso\" (IGB) (Istituto)
• Plasticità genomica: dal genoma ai sistemi biologici (SV.P13.003.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Neuroscience (Rivista)

Insieme di parole chiave di

• Keywords of "ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations" (Insieme di parole chiave)