bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
Authors: Bras Jose , Guerreiro Rita , Ribeiro Maria , Morgadinho Ana , Januario Cristina , Dias Margarida , Calado Ana , Semedo Cristina , Oliveira Catarina , Hardy John , Singleton Andrew 
Published: January 2008

Abstract

Background
Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe.

Methods
Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and late-onset familial Portuguese Parkinson disease patients. This series comprises 66 patients selected from a consecutive series of 132 patients. This selection was made in order to include only early onset patients (age at onset below 50 years) or late-onset patients with a positive family history (at least one affected relative). All genes were sequenced bi-directionally, and, additionally, SNCA, PRKN and PINK1 were subjected to gene dosage analysis.

Results
We found mutations both in LRRK2 and PRKN, while the remaining genes yielded no mutations. Seven of the studied patients showed pathogenic mutations, in homozygosity or compound heterozygosity for PRKN, and heterozygosity for LRRK2.

Conclusion
Mutations are common in Portuguese patients with Parkinson's disease, and these results clearly have implications not only for the genetic diagnosis, but also for the genetic counseling of these patients.
Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities
Authors: Press Joshua Z , De Luca Alessandro , Boyd Niki , Young Sean , Troussard Armelle , Ridge Yolanda , Kaurah Pardeep , Kalloger Steve E , Blood Katherine A , Smith Margaret , Spellman Paul T , Wang Yuker , Miller Dianne M , Horsman Doug , Faham Malek , Gilks C Blake , Gray Joe , Huntsman David G 
Published: January 2008

Abstract

Background
Subclassification of ovarian carcinomas can be used to guide treatment and determine prognosis. Germline and somatic mutations, loss of heterozygosity (LOH), and epigenetic events such as promoter hypermethylation can lead to decreased expression of BRCA1/2 in ovarian cancers. The mechanism of BRCA1/2 loss is a potential method of subclassifying high grade serous carcinomas.

Methods
A consecutive series of 49 ovarian cancers was assessed for mutations status of BRCA1 and BRCA2, LOH at the BRCA1 and BRCA2 loci, methylation of the BRCA1 promoter, BRCA1, BRCA2, PTEN, and PIK3CA transcript levels, PIK3CA gene copy number, and BRCA1, p21, p53, and WT-1 immunohistochemistry.

Results
Eighteen (37%) of the ovarian carcinomas had germline or somatic BRCA1 mutations, or epigenetic loss of BRCA1. All of these tumours were high-grade serous or undifferentiated type. None of the endometrioid (n = 5), clear cell (n = 4), or low grade serous (n = 2) carcinomas showed loss of BRCA1, whereas 47% of the 38 high-grade serous or undifferentiated carcinomas had loss of BRCA1. It was possible to distinguish high grade serous carcinomas with BRCA1 mutations from those with epigenetic BRCA1 loss: tumours with BRCA1 mutations typically had decreased PTEN mRNA levels while those with epigenetic loss of BRCA1 had copy number gain of PIK3CA. Overexpression of p53 with loss of p21 expression occurred significantly more frequently in high grade serous carcinomas with epigenetic loss of BRCA1, compared to high grade serous tumors without loss of BRCA1.

Conclusion
High grade serous carcinomas can be subclassified into three groups: BRCA1 loss (genetic), BRCA1 loss (epigenetic), and no BRCA1 loss. Tumors in these groups show distinct molecular alterations involving the PI3K/AKT and p53 pathways.
Nutritional therapies for mental disorders
Authors: Lakhan Shaheen E , Vieira Karen F 
Published: January 2008

AbstractAccording to the Diagnostic and Statistical Manual of Mental Disorders, 4 out of the 10 leading causes of disability in the US and other developed countries are mental disorders. Major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD) are among the most common mental disorders that currently plague numerous countries and have varying incidence rates from 26 percent in America to 4 percent in China. Though some of this difference may be attributable to the manner in which individual healthcare providers diagnose mental disorders, this noticeable distribution can be also explained by studies which show that a lack of certain dietary nutrients contribute to the development of mental disorders. Notably, essential vitamins, minerals, and omega-3 fatty acids are often deficient in the general population in America and other developed countries; and are exceptionally deficient in patients suffering from mental disorders. Studies have shown that daily supplements of vital nutrients often effectively reduce patients' symptoms. Supplements that contain amino acids also reduce symptoms, because they are converted to neurotransmitters that alleviate depression and other mental disorders. Based on emerging scientific evidence, this form of nutritional supplement treatment may be appropriate for controlling major depression, bipolar disorder, schizophrenia and anxiety disorders, eating disorders, attention deficit disorder/attention deficit hyperactivity disorder (ADD/ADHD), addiction, and autism. The aim of this manuscript is to emphasize which dietary supplements can aid the treatment of the four most common mental disorders currently affecting America and other developed countries: major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD).Most antidepressants and other prescription drugs cause severe side effects, which usually discourage patients from taking their medications. Such noncompliant patients who have mental disorders are at a higher risk for committing suicide or being institutionalized. One way for psychiatrists to overcome this noncompliance is to educate themselves about alternative or complementary nutritional treatments. Although in the cases of certain nutrients, further research needs to be done to determine the best recommended doses of most nutritional supplements, psychiatrists can recommend doses of dietary supplements based on previous and current efficacious studies and then adjust the doses based on the results obtained.
Proteome profiling of embryo chick retina
Authors: Mizukami Mina , Kanamoto Takashi , Souchelnytskyi Nazariy , Kiuchi Yoshiaki 
Published: January 2008

Abstract

Background
Little is known regarding the molecular pathways that underlie the process of retinal development. The purpose of this study was to identify proteins which may be involved in development of retina. We used a proteomics-based approach to identify proteins that are up- or down-regulated during the development of the embryo chick retina.

Results
Two-dimensional gel electrophoresis was performed with the retina of embryo chicken, which was obtained from embryos of day 7 (ED7) and of day 11 (ED11). The protein spots showing significant differences were selected for identification by MALDI mass spectrometry. Thirteen proteins were differentially expressed; seven proteins were up-regulated in embryo retina of chicken at ED 11 and six proteins were down-regulated. Significant proteins were also evaluated in embryo day 15 (ED15). Some of identified proteins were known to regulate cell proliferation, cell death, transport, metabolism, organization and extracellular matrix, and others also included novel proteins.

Conclusion
We identified thirteen proteins which differentially expressed in embryonal retina of chicken at day 7, as compared to the retina of embryo of day 11. They were various regulatory proteins for cellular signaling.
Protocol: Streamline cloning of genes into binary vectors in Agrobacterium via the Gateway® TOPO vector system
Authors: Xu Ruqiang , Qingshun Li Quinn 
Published: January 2008

Abstract

Background
In plant functional genomic studies, gene cloning into binary vectors for plant transformation is a routine procedure. Traditionally, gene cloning has relied on restriction enzyme digestion and ligation. In recent years, however, Gateway® cloning technology (Invitrogen Co.) has developed a fast and reliable alternative cloning methodology which uses a phage recombination strategy. While many Gateway- compatible vectors are available, we frequently encounter problems in which antibiotic resistance genes for bacterial selection are the same between recombinant vectors. Under these conditions, it is difficult, if not sometimes impossible, to use antibiotic resistance in selecting the desired transformants. We have, therefore, developed a practical procedure to solve this problem.

Results
An integrated protocol for cloning genes of interest from PCR to Agrobacterium transformants via the Gateway® System was developed. The protocol takes advantage of unique characteristics of the replication origins of plasmids used and eliminates the necessity for restriction enzyme digestion in plasmid selections.

Conclusion
The protocol presented here is a streamlined procedure for fast and reliable cloning of genes of interest from PCR to Agrobacterium via the Gateway® System. This protocol overcomes a key problem in which two recombinant vectors carry the same antibiotic selection marker. In addition, the protocol could be adapted for high-throughput applications.
Gene expression variation in African and European populations of Drosophila melanogaster
Authors: Hutter Stephan , Saminadin-Peter Sarah S , Stephan Wolfgang , Parsch John 
Published: January 2008

Abstract
Background
Differences in levels of gene expression among individuals are an important source of phenotypic variation within populations. Recent microarray studies have revealed that expression variation is abundant in many species, including Drosophila melanogaster. However, previous expression surveys in this species generally focused on a small number of laboratory strains established from derived populations. Thus, these studies were not ideal for population genetic analyses.

Results
We surveyed gene expression variation in adult males of 16 D. melanogaster strains from two natural populations, including an ancestral African population and a derived European population. Levels of expression polymorphism were nearly equal in the two populations, but a higher number of differences was detected when comparing strains between populations. Expression variation was greatest for genes associated with few molecular functions or biological processes, as well as those expressed predominantly in males. Our analysis also identified genes that differed in expression level between the European and African populations, which may be candidates for adaptive regulatory evolution. Genes involved in flight musculature and fatty acid metabolism were over-represented in the list of candidates.

Conclusion
Overall, stabilizing selection appears to be the major force governing gene expression variation within populations. However, positive selection may be responsible for much of the between-population expression divergence. The nature of the genes identified to differ in expression between populations may reveal which traits were important for local adaptation to the European and African environments.
Association of the cannabinoid receptor gene (CNR1) with ADHD and post‐traumatic stress disorder
Authors: Lu Ake T. , Ogdie Matthew N. , Järvelin Marjo‐Ritta , Moilanen Irma K. , Loo Sandra K. , McCracken James T. , McGough James J. , Yang May H. , Peltonen Leena , Nelson Stanley F. , Cantor Rita M. , Smalley Susan L. 
Published: January 2008

AbstractAttention deficit hyperactivity disorder (ADHD) is a highly heritable disorder affecting some 5–10% of children and 4–5% of adults. The cannabinoid receptor gene (CNR1) is a positional candidate gene due to its location near an identified ADHD linkage peak on chromosome 6, its role in stress and dopamine regulation, its association with other psychiatric disorders that co‐occur with ADHD, and its function in learning and memory. We tested SNP variants at the CNR1 gene in two independent samples—an unselected adolescent sample from Northern Finland, and a family‐based sample of trios (an ADHD child and their parents). In addition to using the trios for association study, the parents (with and without ADHD) were used as an additional case/control sample of adults for association tests. ADHD and its co‐morbid psychiatric disorders were examined. A significant association was detected for a SNP haplotype (C‐G) with ADHD (P = 0.008). A sex by genotype interaction was observed as well with this haplotype posing a greater risk in males than females. An association of an alternative SNP haplotype in this gene was found for post‐traumatic stress disorder (PTSD) (P = 0.04 for C‐A, and P = 0.01 for C‐G). These observations require replication, however, they suggest that the CNR1 gene may be a risk factor for ADHD and possibly PTSD, and that this gene warrants further investigation for a role in neuropsychiatric disorders. © 2008 Wiley‐Liss, Inc.
Dye behavior of cationically treated silk
Authors: Xiang Wei , Cai Zai‐Sheng 
Published: January 2008

AbstractTo increase the performance of silk fabrics, especially their dyeability, a cationic modifying agent, 3‐(trimethoxysilyl) propyl dodecyl dimethyl ammonium chloride (HSQA), was prepared in our laboratory. The dye behavior of the cationized silk was examined with five leveling‐type acid dyes. Better color shades and good washing fastness were achieved after silk was cationized by HSQA, and it was possible to dye silk under neutral conditions at 70°C. The equilibrium adsorption isotherm and kinetic properties of the cationized silk dyed with CI Acid Orange 7 were investigated. The adsorption of CI Acid Orange 7 onto the HSQA‐cationized silk was also in good agreement with the Langmuir isotherm, with an enthalpy and an entropy of −20.13 kJ/mol and −30.06 J/mol K respectively. A pseudo‐second‐order kinetic model agreed well with the dynamic behaviors for the adsorption of CI Acid Orange 7 onto the cationized silk under neutral conditions, with the activation energy decreasing from 61.87 to 53.32 kJ/mol. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Mechanical properties of polybenzoxazine syntactic foams
Authors: Santhosh Kumar K. S. , Reghunadhan Nair C. P. , Ninan K. N. 
Published: January 2008

AbstractSyntactic foams of polybenzoxazine, containing moderately high volume percentage of glass microballoons, were prepared. The specific gravity decreased with increase in microballoon content. The disproportionate decrease in specific gravity was ascribed to entrapment of air voids during compaction. The high content of microballoon increased the possibility for air voids that tended to get accumulated. The effect of microballoon concentration on tensile, compressive, and flexural strengths of the foams was studied. Tensile and compressive properties were optimized at about 68% by volume of microballoon while flexural strength decreased marginally on increasing the microballoon content. Althought the specific tensile and compressive strength showed a maximum followed by a decrease, the specific flexural strength systematically increased with microballoon content. The increased packing density of syntactic foam of a given constituent composition increased the compressive strength. The property variation was corroborated by morphological features, as evidenced in scanning electron micrographs. The syntactic foams showed “multiple resin‐neck formation” and “disc‐shaped microballoon regions.” The crushing of microballoons during molding was inevitable when compaction was effected to achieve a density beyond the theoretical one. Low‐density syntactic foams tend to fail at lower loads because of fracturing of microballoons. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Hybrid Ligands with N‐Heterocyclic Carbene and Chiral Phosphaferrocene Components
Authors: Willms Holger , Frank Walter , Ganter Christian 
Published: January 2008

AbstractN‐Heterocyclic carbenes (NHCs) possessing one or two 3,4‐dimethylphosphaferrocenyl substituents and either methylene or ethylene alkyl bridges have been prepared. These carbenes turned out to be remarkably stable and were characterized by NMR methods and partly by mass spectrometry. Their molybdenum and ruthenium complexes were examined in order to determine the electronic properties and the coordination behaviour of these chiral PC‐ and PCP‐chelate ligands, which combine a NHC unit as a strong σ‐donor with π‐accepting phosphaferrocene moieties. Crystal structures of one ligand precursor and of three complexes have been determined.
Risk of hypothyroidism in older breast cancer patients treated with radiation
Authors: Smith Grace L. , Smith Benjamin D. , Giordano Sharon H. , Shih Ya Chen T. , Woodward Wendy A. , Strom Eric A. , Perkins George H. , Tereffe Welela , Yu Tse Kuan , Buchholz Thomas A. 
Published: January 2008

AbstractBACKGROUND.Hypothyroidism is a potential complication after radiation therapy (RT) when treatment fields include the thyroid. The authors assessed risk of hypothyroidism in breast cancer patients who were receiving RT to a supraclavicular field, which typically includes a portion of thyroid.METHODS.The authors identified 38,255 women (aged >65) without history of hypothyroidism from the Surveillance, Epidemiology, and End Results (SEER)‐Medicare cohort diagnosed with stage 0‐III breast cancer from 1992–2002 and 111,944 cancer‐free controls. The authors compared hypothyroidism incidence among irradiated patients with 4 + positive lymph nodes (4 + LN, surrogate for supraclavicular RT) and no positive nodes (0 LN, surrogate for no supraclavicular RT), nonirradiated patients, and controls. Proportional hazards models tested associations of LN, RT, and breast cancer status with hypothyroidism.RESULTS.The 5‐year incidence of hypothyroidism was identical (14%) in irradiated patients with 4 + LN, 0 LN, and nonirradiated patients (P = .52). After adjusting for sociodemographic and clinical characteristics, hypothyroidism risk was not increased in irradiated patients with 4 + LN versus 0 LN (hazard ratio(HR) = 1.04; 95% confidence interval (CI), 0.89–1.23). However, all patients, regardless of RT status, were more likely to be diagnosed with hypothyroidism compared with cancer‐free controls (HR = 1.21; 95% CI, 1.17–1.25).CONCLUSIONS.Development of hypothyroidism is fairly common in older breast cancer survivors. Although supraclavicular irradiation does not appear to amplify risks, further studies on the role of routine thyroid function monitoring in all breast cancer patients regardless of treatment status may be warranted, given the excess risks compared with the general population. Cancer 2008. ©2008 American Cancer Society.
Primary and immortalized mouse epicardial cells undergo differentiation in response to TGFβ
Authors: Austin Anita F. , Compton Leigh A. , Love Joseph D. , Brown Christopher B. , Barnett Joey V. 
Published: January 2008

AbstractCells derived from the epicardium are required for coronary vessel development. Transforming growth factor β (TGFβ) induces loss of epithelial character and smooth muscle differentiation in chick epicardial cells. Here, we show that epicardial explants from embryonic day (E) 11.5 mouse embryos incubated with TGFβ1 or TGFβ2 lose epithelial character and undergo smooth muscle differentiation. To further study TGFβ Signaling, we generated immortalized mouse epicardial cells. Cells from E10.5, 11.5, and 13.5 formed tightly packed epithelium and expressed the epicardial marker Wilm's tumor 1 (WT1). TGFβ induced the loss of zonula occludens‐1 (ZO‐1) and the appearance of SM22α and calponin consistent with smooth muscle differentiation. Inhibition of activin receptor‐like kinase (ALK) 5 or p160 rho kinase activity prevented the effects of TGFβ while inhibition of p38 mitogen activated protein (MAP) kinase did not. These data demonstrate that TGFβ induces epicardial cell differentiation and that immortalized epicardial cells provide a suitable model for differentiation. Developmental Dynamics 237:366–376, 2008. © 2008 Wiley‐Liss, Inc.
Mouse embryonic diastema region is an ideal site for the development of ectopically transplanted tooth germ
Authors: Song Yiqiang , Yan Mingquan , Muneoka Ken , Chen YiPing 
Published: January 2008

AbstractThe anterior eye chamber and the kidney capsule of the mouse have been traditionally used for long‐term culture of tooth germ grafts. However, although these sites provide an excellent growth environment, they do not represent real in situ sites for the development of a grafted tooth germ. Here, we describe a protocol to transplant a tooth germ into the mandibular diastema region of mouse embryos using exo utero surgery. Our results demonstrate that the mouse embryonic diastema region represents a normal physiological environment for the development of transplanted tooth germs. Transplanted tooth germs developed synchronically with and became indistinguishable from the endogenous ones. These ectopic teeth were vascularized and surrounded with nerve fibers, and were able to erupt normally. Thus, the exo utero transplantation approach will provide a new avenue to study tooth development and regeneration. Developmental Dynamics 237:411–416, 2008. © 2008 Wiley‐Liss, Inc.
Pulmonary hypoplasia in the connective tissue growth factor (Ctgf) null mouse
Authors: Baguma‐Nibasheka Mark , Kablar Boris 
Published: January 2008

AbstractConnective tissue growth factor (CTGF) is a mediator of growth factor activity, and Ctgf knockouts die at birth from respiratory failure due to skeletal dysplasia. Previous microarray analysis revealed Ctgf down‐regulation in the hypoplastic lungs of amyogenic mouse embryos. This study, therefore, examined pulmonary development in Ctgf−/− mouse fetuses to investigate if respiration could also have been impaired by lung abnormalities. The Ctgf−/− lungs were hypoplastic, with reduced cell proliferation and increased apoptosis. PDGF‐B, its receptor and IGF‐I, were markedly attenuated and the TTF‐1 gradient lost. Type II pneumocyte differentiation was perturbed, the cells depicting excessive glycogen retention and diminished lamellar body and nuclear size, though able to synthesize surfactant‐associated protein. However, type I pneumocyte differentiation was not affected by Ctgf deletion. Our findings indicate that the absence of Ctgf and/or its protein product, CTGF, may induce pulmonary hypoplasia by both disrupting basic lung developmental processes and restricting thoracic expansion. Developmental Dynamics 237:485–493, 2008. © 2008 Wiley‐Liss, Inc.