• Title/Summary/Keyword: Gene gain-and-loss analysis

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Meningeal Hemangiopericytomas and Meningomas: a Comparative Immunohistochemical and Genetic Study

  • Trabelsi, Saoussen;Mama, Nadia;Chourabi, Maroua;Mastouri, Maroua Haddaji;Ladib, Mohamed;Popov, Sergey;Burford, Anna;Mokni, Moncef;Tlili, Kalthoum;Krifa, Hedi;Jones, Chris;Yacoubi, Mohamed Tahar;Saad, Ali;Brahim, Dorra H'mida-Ben
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.6871-6876
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    • 2015
  • Background: The meningeal hemangiopericytoma (MHPC) is a vascular tumor arising from pericytes. Most intracranial MHPCs resemble meningiomas (MNGs) in their clinical presentation and histological features and may therefore be misdiagnosed, despite important differences in prognosis. Materials and Methods: We report 8 cases of MHPC and 5 cases of MNG collected from 2007 to 2011 from the Neuro-Surgery and Histopathology departments. All 13 samples were re reviewed by two independent pathologists and investigated by immunohistochemistry (IHC) using mesenchymal, epithelial and neuro-glial markers. Additionally, we screened all tumors for a large panel of chromosomal alterations using multiplex ligation probe amplification (MLPA). Presence of the NAB2-STAT6 fusion gene was inferred by immunohistochemical staining for STAT6. Results: Compared with MNG, MHPCs showed strong VIM (100% of cases), CD99 (62%), bcl-2 (87%), and p16 (75%) staining but only focal positivity with EMA (33%) and NSE (37%). The p21 antibody was positive in 62% of MHPC and less than 1% in all MNGs. MLPA data did not distinguish HPC from MNG, with PTEN loss and ERBB2 gain found in both. By contrast, STAT6 nuclear staining was observed in 3 MHPC cases and was absent from MNG. Conclusions: MNG and MHPC comprise a spectrum of tumors that cannot be easily differentiated based on histopathology. The presence of STAT6 nuclear positivity may however be a useful diagnostic marker.

Analysis of CMTX Mutants Using Connexin Membrane Channels (커넥신 세포막채널을 이용한 씨엠티엑스 돌연변이체의 분석)

  • Cheon, Mi-Saek;Oh, Seung-Hoon
    • Journal of Life Science
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    • v.18 no.6
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    • pp.764-769
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    • 2008
  • Mutations in the human connexin 32 (Cx32) gene are responsible for X-linked Charcot-Marie-Tooth (CMTX) disease. Although over 300 different mutations have been identified the detailed molecular etiology of CMTX disease is poorly understood. Several studies reported that connexin membrane channels share most biophysical properties with their parental gap junction channels. In this study, two connexin mutant membrane channels (one mutant channel called the M34T channel in which the methionine residue at the $34^{th}$ position of the Cx32 protein is replaced with threonine residue and the other mutant channel called the T86C channel in which the threonine residue at the $86^{th}$ position is replaced with cysteine residue) associated with CMTX mutations were characterized at the single-channel level instead of using mutant gap junction channels. The biophysical properties of the M34T channel were very similar to those of the gap junction channel formed by M34T mutation. In addition, the mutant membrane channel study revealed the reversal of the gating polarity, the loss of fast gating and the gain of slow gating. The T86C channel also behaves like its parental wild type Cx32 membrane channel. Taken together, these results suggest that a study using connexin membrane channels is useful to characterize CMTX mutants.

Genetic Correlation of Carcass and Meat Production Traits with Hormones and Metabolic Components in Hawoo (가축의 혈청 호르몬 및 대사물질 농도와 도체 및 산육형질에 대한 유전상관에 관한 연구)

  • Jeon G. J.;Juong H. Y.;Cho K. H.;Kim M. J.;Kim I. C.;Kim J. B.
    • Journal of Embryo Transfer
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    • v.20 no.3
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    • pp.255-269
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    • 2005
  • This study was aimed to investigate genetic relationships, variables, and correlations between economic traits and metabolic materials in serum components according to bleeding periods and breeding locations for the castrated and not castrated Hanwoo cattle at National Livestock Research Institute. Analysis of variance for serum hormones and metabolic materials showed significant differences by breeding locations except for testosterone and globulin. Statistical differences for serum components were detected by birth year except for cortisol, total protein, globulin and creatinine, and by castration except for total protein and BUN. All the serum components were tended to have sire effects except for testosterone resulting in some degree of additive gene actions. Breeding locations showed statistical significances for carcass weight and back fat thickness, but not in carcass rate, KPH, live weight and transportation weight loss. Effects of breeding locations and castration were significant for all weight measurement periods except for 9 month and 6 month, respectively. A significant sire effect was observed in all weight measurements. Least squared means for concentration of serum components by breeding year, season and castration were not significant. High concentration of cortisol, creatinine and triglyceride and low concentration of IGF-1 and glucose were detected in castrated cattle. Concentration of testosterone with castrated cattle was $5.2\%$ corresponding to non castrated cattle. Estimation of heritabilities of serum components using a sire model with restricted maximum likelihood were ranged 0.07 to 0.58. High heritabilities were estimated for total protein, albumin, globulin, cortisol, creatinine and BUN were 0.53, 0.54, 0.42, 0.45, 0.58 and 0.54, respectively. Low heritabilities were estimated fur calcium, testosterone and IGF-1 for 0.07, 0.15 and 0.12, respectively. Heritabilities for carcass weight, back fat thickness, meat yield index, KPH, and IMF were estimated as 0.39, 0.45, 0.30 0.13, and 0.93. Heritabilities of weights on 18, 12, 9, 6, and 24 month were estimated as 0.78, 0.76, 0.62, 0.58 and 0.58. Estimated heritabilities for average daily gain on 6${\~}$2, 12${\~}$18, and 18${\~}$24 month were 0.80, 0.75 and 0.19, respectively.