2012 William Allan Award introduction: Uta Francke

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Structural and electrical characterizations of InxGa1-xAs/InP structures for infrared photodetector applications

Cataloged from PDF version of article.Three InGaAs/InP structures for photodetector applications were grown with different indium compositions by MBE technique. The structural properties of the samples have been obtained by means of high resolution X-ray diffraction and secondary ion mass spectrometry measurements. Three InGaAs/InP metal-semiconductor-metal devices were fabricated at room temperature. The experimental forward and reverse bias current-voltage characteristics of the devices such as ideality factor, barrier height, and saturation current were evaluated considering the structural properties of the grown structures. The carrier recombination lifetime and diffusion length in the devices were also calculated using carrier density and mobility data obtained with Hall effect measurement at room temperature. It was determined that all room temperature fabricated devices improved the Schottky barrier height. Especially, the device fabricated on the lower mismatched structure exhibited barrier height enhancement from 0.2 eV, which is the conventional barrier height to 0.642 eV. In addition, the obtained results show that the room temperature fabricated devices on InGaAs/InP structures can be convenient for infrared photodetector applications. (C) 2014 AIP Publishing LLC

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations

Cataloged from PDF version of article.Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases. A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great Britain (6), and the United States (2). Haplotyping showed that they are likely to derive from a common ancestor, possibly of northern British origin. Our results demonstrate that it is strongly advisable, for laboratories carrying out screening either in English-speaking countries or in countries with historical links with Britain, to include within their BRCA1 screening protocols the polymerase chain reaction-based assay described in this report

X chromosome inactivation and female predisposition to autoimmunity

[No abstract available

Electron transport properties in Al0.25Ga0.75N/AIN/GaN hetrostructures with different InGaN back barrier layers and GaN channel thickness grown by MOCVD

Cataloged from PDF version of article.The electron transport properties in Al0.25Ga0.75N/AlN/GaN/InxGa1-xN/GaN double heterostructures with various indium compositions and GaN channel thicknesses were investigated. Samples were grown on c-plane sapphire substrates by MOCVD and evaluated using variable temperature Hall effect measurements. In order to understand the observed transport properties, various scattering mechanisms, such as acoustic phonon, optical phonon, interface roughness, background impurity, and alloy disorder, were included in the theoretical model that was applied to the temperature-dependent mobility data. It was found that low temperature (T 160 K), optical phonon scattering is the dominant scattering mechanism for AlGaN/AlN/GaN/InGaN/GaN heterostructures. The higher mobility of the structures with InGaN back barriers was attributed to the large conduction band discontinuity obtained at the channel/buffer interface, which leads to better electron confinement. (C) 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinhei

Stimulation of autophagy reduces neurodegeneration in a mouse model of human tauopathy

The accumulation of insoluble proteins is a pathological hallmark of several neurodegenerative disorders. Tauopathies are caused by the dysfunction and aggregation of tau protein and an impairment of cellular protein degradation pathways may contribute to their pathogenesis. Thus, a deficiency in autophagy can cause neurodegeneration, while activation of autophagy is protective against some proteinopathies. Little is known about the role of autophagy in animal models of human tauopathy. In the present report, we assessed the effects of autophagy stimulation by trehalose in a transgenic mouse model of tauopathy, the human mutant P301S tau mouse, using biochemical and immunohistochemical analyses. Neuronal survival was evaluated by stereology. Autophagy was activated in the brain, where the number of neurons containing tau inclusions was significantly reduced, as was the amount of insoluble tau protein. This reduction in tau aggregates was associated with improved neuronal survival in the cerebral cortex and the brainstem. We also observed a decrease of p62 protein, suggesting that it may contribute to the removal of tau inclusions. Trehalose failed to activate autophagy in the spinal cord, where it had no impact on the level of sarkosyl-insoluble tau. Accordingly, trehalose had no effect on the motor impairment of human mutant P301S tau transgenic mice. Our findings provide direct evidence in favour of the degradation of tau aggregates by autophagy. Activation of autophagy may be worth investigating in the context of therapies for human tauopathie

HER2 and proliferation of wound-induced breast carcinoma

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Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ)

Background: WDR81 (WD repeat-containing protein 81) is associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ2, [MIM 610185]). Human and mouse studies suggest that it might be a gene of importance during neurodevelopment. This study aimed at fully characterizing the structure of the wdr81 transcript, detecting the possible transcript variants and revealing its expression profile in zebrafish, a powerful model organism for studying development and disease. Results: As expected in human and mouse orthologous proteins, zebrafish wdr81 is predicted to possess a BEACH (Beige and Chediak-Higashi) domain, a major facilitator superfamily domain and WD40-repeats, which indicates a conserved function in these species. We observed that zebrafish wdr81 encodes one open reading frame while the transcript has one 5' untranslated region (UTR) and the prediction of the 3' UTR was mainly confirmed along with a detected insertion site in the embryo and adult brain. This insertion site was also found in testis, heart, liver, eye, tail and muscle, however, there was no amplicon in kidney, intestine and gills, which might be the result of possible alternative polyadenylation processes among tissues. The 5 and 18 hpf were critical timepoints of development regarding wdr81 expression. Furthermore, the signal of the RNA probe was stronger in the eye and brain at 18 and 48 hpf, then decreased at 72 hpf. Finally, expression of wdr81 was detected in the adult brain and eye tissues, including but not restricted to photoreceptors of the retina, presumptive Purkinje cells and some neurogenic brains regions. Conclusions: Taken together these data emphasize the importance of this gene during neurodevelopment and a possible role for neuronal proliferation. Our data provide a basis for further studies to fully understand the function of wdr81. © 2015 Doldur-Balli et al

Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

Cataloged from PDF version of article.Germ line BRCA1 and/or BRCA2 mutations were screened in 50 Turkish breast and/or ovarian cancer patients composed of hereditary, familial, early onset and male cancer groups. Genomic DNA samples were tested by heteroduplex analysis and DNA sequencing. Two truncating BRCA2 mutations, one novel (6880 insG) and one previously reported (3034 delAAAC), were found in two out of six (33%) hereditary breast and/or ovarian cancer patients. A novel truncating (1200 insA) and a missense (2080A→G) BRCA1 mutation was found in two of 27 (7%) individuals in the early onset group. A total of four (8%) disease-causing mutations in 50 breast cancer patients were identified in BRCA1 and BRCA2 genes. In addition, five BRCA1 sequence variants have been identified in 23 patients. These results indicate that BRCA1 and BRCA2 genes are involved in some, but not all, forms of hereditary predisposition to breast cancer in the Turkish population. Copyright (C) 2000