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  • 1
    Keywords: EXPRESSION ; CELL ; Germany ; CLONES ; GENE ; GENE-EXPRESSION ; GENES ; GENOME ; HYBRIDIZATION ; PROTEIN ; RNA ; DIFFERENTIATION ; LINES ; PATIENT ; FAMILY ; DOMAIN ; CELL-LINES ; MEMBERS ; DELETION ; IN-SITU ; chromosome 2 ; COMPARATIVE GENOMIC HYBRIDIZATION ; gene expression ; genetics ; PHENOTYPE ; SERINE/THREONINE KINASE ; INDIVIDUALS ; cell lines ; FAMILIES ; CANDIDATE GENES ; NEURONS ; autism ; USA ; EXTENT ; rho GTPases ; Genetic ; ALBRIGHT HEREDITARY OSTEODYSTROPHY ; COGNITIVE FUNCTION ; Lymphoblastoid cell lines ; terminal deletion 2q
    Abstract: We describe a patient with autism and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called Albright Hereditary Osteodystrophy-like syndrome or Brachydactyly-Mental Retardation syndrome, OMIM 600430). Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH), define the extent of the de novo deletion to a 3.5 Mb region on 2q37.3. Although a number of reports of patients with 2q37 deletion syndrome have been published, it remains unclear if gene expression and/or translation are altered by the deletion, thus contributing to the observed phenotypes. To address this question, we selected several candidate genes for the neuropsychiatric and skeletal anomalies found in this patient (autism and brachymetaphalangy). The deleted region in 2q37.3 includes the FERM, RhoGEF and pleckstrin domain protein 2 (FARF2), glypican 1 (GPC1), vigilin (HDLBP), kinesin family member 1A (KIFIA) and proline-alanine-rich STE20-related kinase (PASK), all of which are involved in skeletal or neural differentiation processes. Expression analyses of these genes were performed using RNA from lymphoblastoid cell lines of the patient and his familly members. Here we demonstrate that three of these genes, FARP2, HDLBP, and PASK, are considerably downregulated in the patient's cell line. We hypothesize that haploinsufficiency of these genes may have contributed to the patient's clinical phenotype. (c) 2009 Wiley-Liss, Inc
    Type of Publication: Journal article published
    PubMed ID: 19365831
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  • 2
    Keywords: brain ; tumor ; AGENTS ; Germany ; IN-VIVO ; VIVO ; imaging ; VOLUME ; SITE ; DRUG ; TUMORS ; RELEASE ; TIME ; PATIENT ; RAT ; RATS ; CONTRAST ; CONTRAST AGENT ; MR ; MRI ; MAGNETIC-RESONANCE ; MAGNETIC-RESONANCE-SPECTROSCOPY ; magnetic resonance imaging ; prevention ; chemotherapy ; DELIVERY ; PARAMETERS ; PHARMACOKINETICS ; GD-DTPA ; MR imaging ; ELIMINATION ; RE ; LIPOSOMES ; in vivo ; EXTENT ; H1 ; BLEOMYCIN ; CYTARABINE ; fludarabine monophosphate ; fluorine MR spectroscopy ; FORMULATION ; MULTIVESICULAR LIPOSOMES
    Abstract: Introduction: Cytostatic depot preparations are interstitially administered for local chemotherapy and prevention of tumor recurrence. It would be of interest to monitor in patients as to when, to what extent, and exactly where, the drug is actually released. Liposomes containing a hydrophilic cytostatic and a hydrophilic contrast agent might be expected to release both agents simultaneously. If so, then drug release could be indirectly followed by monitoring contrast enhancement at the injection site. Methods: Multivesicular liposomes containing the antimetabolite fludarabine monophosphate and the magnetic resonance imaging (MRI) contrast agent Gd-DTPA were subcutaneously injected in rats and both agents were monitored at the injection site for 6 weeks by F-19 nuclear magnetic resonance spectroscopy (MRS) in vivo and contrast-enhanced H-1 MRI (T (1w) 3D FLASH), respectively, in a 1.5-T whole-body tomograph. The MRS and MRI data were analyzed simultaneously by pharmacokinetic modeling using NONMEM. Results: During an initial lag time, the amount of drug at the injection site stayed constant while the contrast-enhanced depot volume expanded beyond the volume injected. Drug amount and depot volume then decreased in parallel. Lag time and elimination half-life were 9 and 6 days, respectively, in three animals, and were about 50% shorter in another animal where the depot split into sub-depots. Conclusion: The preliminary data in rats suggest that simultaneous release of a hydrophilic cytostatic and a hydrophilic contrast agent from an interstitial depot can be achieved by encapsulation in liposomes. Thus, there seems to be a potential for indirect drug monitoring through imaging
    Type of Publication: Journal article published
    PubMed ID: 16506037
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  • 3
    Keywords: brain ; EXPRESSION ; Germany ; MODEL ; SYSTEM ; DISEASE ; GENE ; GENES ; GENOME ; HYBRIDIZATION ; PROTEIN ; RNA ; SACCHAROMYCES-CEREVISIAE ; MECHANISM ; FAMILY ; IMPACT ; BIOLOGY ; chromosome ; FREQUENCY ; GENOMEWIDE SCREEN ; FREQUENCIES ; hippocampus ; MOUSE ; IN-SITU ; MUTATION ; etiology ; MUTATIONS ; PERVASIVE DEVELOPMENTAL DISORDERS ; INVOLVEMENT ; INDIVIDUALS ; in situ hybridization ; FAMILIES ; TRANSLATION ; MISSENSE MUTATION ; autism ; function ; Male ; SPECTRUM ; SUBSTITUTION ; AMINO-ACID SUBSTITUTIONS ; autistic disorder ; PROTEIN GENE ; ribosomal protein ; SEROTONIN TRANSPORTER 5-HTT ; SUBUNIT PROTEIN ; X MENTAL-RETARDATION ; Xq28
    Abstract: Autism has a strong genetic background with a higher frequency of affected males suggesting involvement of X-linked genes and possibly also other factors causing the unbalanced sex ratio in the etiology of the disorder. We have identified two missense mutations in the ribosomal protein gene RPL10 located in Xq28 in two independent families with autism. We have obtained evidence that the amino-acid substitutions L206M and H213Q at the C-terminal end of RPL10 confer hypomorphism with respect to the regulation of the translation process while keeping the basic translation functions intact. This suggests the contribution of a novel, possibly modulating aberrant cellular function operative in autism. Previously, we detected high expression of RPL10 by RNA in situ hybridization in mouse hippocampus, a constituent of the brain limbic system known to be afflicted in autism. Based on these findings, we present a model for autistic disorder where a change in translational function is suggested to impact on those cognitive functions that are mediated through the limbic system
    Type of Publication: Journal article published
    PubMed ID: 16940977
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