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ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations
- Source :
- Neuroscience 155 (2008): 345–349. doi:10.1016/j.neuroscience.2008.05.030, info:cnr-pdr/source/autori:Gianfrancesco F.; Esposito T.; Penco S.; Maglione V.; Liquori C.L.; Patrosso M.C.; Zuffardi O.; Ciccodicola A.; Marchuk D.A.; Squitieri F./titolo:ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations/doi:10.1016%2Fj.neuroscience.2008.05.030/rivista:Neuroscience/anno:2008/pagina_da:345/pagina_a:349/intervallo_pagine:345–349/volume:155
- Publication Year :
- 2008
-
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.
- Subjects :
- Adult
Hemangioma, Cavernous, Central Nervous System
KRIT1
Sequence analysis
PDCD10
Central nervous system
Chromosomal translocation
In situ hybridization
Biology
MGC4607
Primary Ovarian Insufficiency
Translocation, Genetic
cerebral cavernous malformations
Cell Line
Text mining
X Chromosome Inactivation
Gene expression
medicine
Humans
RNA, Messenger
Databases, Protein
Gene
ZPLD1
business.industry
General Neuroscience
Membrane Proteins
Chromosome Breakage
Molecular biology
Magnetic Resonance Imaging
medicine.anatomical_structure
Phenotype
Leukocytes, Mononuclear
Female
Chromosomes, Human, Pair 3
Signal transduction
business
Signal Transduction
Subjects
Details
- ISSN :
- 03064522
- Volume :
- 155
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Neuroscience
- Accession number :
- edsair.doi.dedup.....4e72b9a93ebfb86b75995d218ed142e5