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- 저자 : Roessler, Stephanie (검색결과 5 건)
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Bae, Gyu-Un,Domené,, Sabina,Roessler, Erich,Schachter, Karen,Kang, Jong-Sun,Muenke, Maximilian,Krauss, Robert ,S. Elsevier 2011 American journal of human genetics Vol.89 No.2
<P>Holoprosencephaly (HPE), a common human congenital anomaly defined by a failure to delineate the midline of the forebrain and/or midface, is associated with diminished Sonic hedgehog (SHH)-pathway activity in development of these structures. SHH signaling is regulated by a network of ligand-binding factors, including the primary receptor PTCH1 and the putative coreceptors, CDON (also called CDO), BOC, and GAS1. Although binding of SHH to these receptors promotes pathway activity, it is not known whether interactions between these receptors are important. We report here identification of missense <I>CDON</I> mutations in human HPE. These mutations diminish CDON's ability to support SHH-dependent gene expression in cell-based signaling assays. The mutations occur outside the SHH-binding domain of CDON, and the encoded variant CDON proteins do not display defects in binding to SHH. In contrast, wild-type CDON associates with PTCH1 and GAS1, but the variants do so inefficiently, in a manner that parallels their activity in cell-based assays. Our findings argue that CDON must associate with both ligand and other hedgehog-receptor components, particularly PTCH1, for signaling to occur and that disruption of the latter interactions is a mechanism of HPE.</P>
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Oishi, Naoki,Kumar, Mia R.,Roessler, Stephanie,Ji, Junfang,Forgues, Marshonna,Budhu, Anuradha,Zhao, Xuelian,Andersen, Jesper B.,Ye, Qing‐,Hai,Jia, Hu‐,Liang,Qin, Lun‐,Xiu,Yamashita, Wiley Subscription Services, Inc., A Wiley Company 2012 Hepatology Vol.56 No.5
<P><B>Abstract</B></P><P>Intrahepatic cholangiocellular carcinoma (ICC) is the second most common type of primary liver cancer. However, its tumor heterogeneity and molecular characteristics are largely unknown. In this study, we conducted transcriptomic profiling of 23 ICC and combined hepatocellular cholangiocarcinoma tumor specimens from Asian patients using Affymetrix messenger RNA (mRNA) and NanoString microRNA microarrays to search for unique gene signatures linked to tumor subtypes and patient prognosis. We validated the signatures in an additional 68 ICC cases derived from Caucasian patients. We found that both mRNA and microRNA expression profiles could independently classify Asian ICC cases into two main subgroups, one of which shared gene expression signatures with previously identified hepatocellular carcinoma (HCC) with stem cell gene expression traits. ICC‐specific gene signatures could predict survival in Asian HCC cases and independently in Caucasian ICC cases. Integrative analyses of the ICC‐specific mRNA and microRNA expression profiles revealed that a common signaling pathway linking miR‐200c signaling to epithelial‐mesenchymal transition (EMT) was preferentially activated in ICC with stem cell gene expression traits. Inactivation of miR‐200c resulted in an induction of EMT, whereas activation of miR‐200c led to a reduction of EMT including a reduced cell migration and invasion in ICC cells. We also found that miR‐200c and neural cell adhesion molecule 1 (NCAM1) expression were negatively correlated and their expression levels were predictive of survival in ICC samples. NCAM1, a known hepatic stem/progenitor cell marker, was experimentally demonstrated to be a direct target of miR‐200c. Conclusion: Our results indicate that ICC and HCC share common stem‐like molecular characteristics and poor prognosis. We suggest that the specific components of EMT may be exploited as critical biomarkers and clinically relevant therapeutic targets for an aggressive form of stem cell‐like ICC. (H<SMALL>EPATOLOGY</SMALL> 2012;56:1792–1803)</P>
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Brown, Michael Mensah,Alenyorege, Benjamin,Teye, Gabriel Ayum,Roessler, Regina Asian Australasian Association of Animal Productio 2017 Animal Bioscience Vol.30 No.10
Objective: Our study provides information on phenotypes of local chickens and guinea fowl and their body measures as well as on major genes in local chickens in northern Ghana. Methods: Qualitative and morphometric traits were recorded on 788 local chickens and 394 guinea fowl in urban households in Tamale, Ghana. Results: The results showed considerable variation of color traits and numerous major genes in local chickens, while color variations and related genotypes in guinea fowl were limited. In local chickens, white was preferred for plumage, whereas dark colors were preferred for beak and shanks. More than half of the chickens carried at least one major gene, but the contributions of single gene carriers were low. All calculated allele frequencies were significantly lower than their expected Mendelian allele frequencies. We observed higher mean body weight and larger linear body measures in male as compared to female chickens. In female chickens, we detected a small effect of major genes on body weight and chest circumference. In addition, we found some association between feather type and plumage color. In guinea fowl, seven distinct plumage colors were observed, of which pearl grey pied and pearl grey were the most prevalent. Male pearl grey pied guinea fowl were inferior to pearl grey and white guinea fowl in terms of body weight, body length and chest circumference; their shank length was lower than that of pearl grey fowl. Conclusion: Considerable variation in qualitative traits of local chickens may be indicative of genetic diversity within local chicken populations, but major genes were rare. In contrast, phenotypic and genetic diversity in local guinea fowl is limited. Broader genetic diversity studies and evaluation of trait preferences of local poultry producers are required for the design of appropriate breeding programs.
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Interplay of Structural Distortions, Dielectric Effects and Magnetic Order in Multiferroic GdMnO3
Mathias Doerr,Michael Loewenhaupt,Aditya A. Wagh,P. S. Anil Kumar,Suja Elizabeth,Sahana Roessler,Martin Rotter,Steffen Wirth 한국물리학회 2013 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.62 No.10
Multiferroic materials are characterized by simultaneous magnetic and ferroelectric ordering making them good candidates for magneto-electrical applications. We conducted thermal expansion and magnetostriction measurements in magnetic fields up to 14 T on perovskitic GdMnO3 by highresolution capacitive dilatometry in an effort to determine all longitudinal and transversal components of the magnetostriction tensor. Below the ordering temperature TN = 42 K, i.e., within the different complex (incommensurate or complex) antiferromagnetic phases, lattice distortions of up to 100 ppm have been found. Although no change of the lattice symmetry occurs, the measurements reveal strong magneto-structural phenomena, especially in the incommensurate sinusoidal antiferromagnetic phase. A strong anisotropy of the magnetoelastic properties was found, in good agreement with the type and propagation vector of the magnetic structure. We demonstrate that our capacitive dilatometry can detect lattice expansion effects and changes of the dielectric permittivity simultaneously because the sample is housed inside the capacitor. A separation of both effects is possible by shielding the sample. Dielectric transitions could be detected by this method and compared to the critical values of H and T in the magnetic phase diagram. Dielectric changes measured at 1 kHz excitation frequency are detected in GdMnO3 at about 180 K,and between 10 K and 25 K in the canted antiferromagnetic structure which is characterized by a complex magnetic order on both the Gd- and Mn-sites.
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