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C Barbirato, M Trancozo, M R G O Rebouças, V Sipolatti, V R R Nunes, F Paula
Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients...
September 2, 2016: Genetics and Molecular Research: GMR
Xiaochun Jiang, Taofeng Zhou, Zhichun Wang, Bin Qi, Hongping Xia
Grade IV glioblastoma multiforme (GBM) is the most malignant form of gliomas. HSP47, encoded by SERPINH1 gene, is a serpin which serves as a human chaperone protein for collagen. We have shown that HSP47 is significantly overexpressed in GBM and associated with tumor grade. However, the role of HSP47 on GBM progression and stem-like property remains unclear. The stable overexpression of HSP47 in primary GBM cells was established by lentivirus infection. The effects of HSP47 overexpression on tumor grow and the effects of blocking TGF-β pathway on tumor regression were investigated by animal study...
October 4, 2016: ACS Chemical Neuroscience
Charlotte Marshall, Jaime Lopez, Laura Crookes, Rebecca C Pollitt, Meena Balasubramanian
Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance. However, within the last two decades, there have been growing number of variants identified in genes that follow an autosomal recessive pattern of inheritance. Our proband is a child born in Mexico with multiple fractures of ribs, minimal calvarial mineralisation, platyspondyly, marked compression and deformed long bones...
September 24, 2016: Gene
S P Pantazatos, Y-Y Huang, G B Rosoklija, A J Dwork, V Arango, J J Mann
Brain gene expression profiling studies of suicide and depression using oligonucleotide microarrays have often failed to distinguish these two phenotypes. Moreover, next generation sequencing approaches are more accurate in quantifying gene expression and can detect alternative splicing. Using RNA-seq, we examined whole-exome gene and exon expression in non-psychiatric controls (CON, N=29), DSM-IV major depressive disorder suicides (MDD-S, N=21) and MDD non-suicides (MDD, N=9) in the dorsal lateral prefrontal cortex (Brodmann Area 9) of sudden death medication-free individuals post mortem...
August 16, 2016: Molecular Psychiatry
Kazuto Kamikawaji, Naohiko Seki, Masaki Watanabe, Hiroko Mataki, Tomohiro Kumamoto, Koichiro Takagi, Keiko Mizuno, Hiromasa Inoue
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their pathology. Recent studies of microRNA (miRNA) expression signatures showed that microRNA-29a (miR-29a) was downregulated in IPF and lung cancer. The aim of this study was to investigate the functional significance of miR-29a in lung cancer cells (A549 and EBC-1) and lung fibroblasts (MRC-5) and to identify molecular targets modulated by miR-29a in these cells...
August 4, 2016: Journal of Human Genetics
Xiaoyun Sun, Arianna Kim, Masashi Nakatani, Yao Shen, Liang Liu
Solar ultraviolet radiation (UVR) is the major risk factor for skin carcinogenesis. To gain new insights into the molecular pathways mediating UVR effects in the skin, we performed comprehensive transcriptomic analyses to identify shared and distinctive molecular responses to UVR between human keratinocytes and melanocytes. Keratinocytes and melanocytes were irradiated with varying doses of UVB (10, 20 and 30 mJ/cm(2) ) then analysed by RNA-Seq at different time points post-UVB radiation (4, 24 and 72 h). Under basal conditions, keratinocytes and melanocytes expressed similar number of genes, although they each expressed a distinctive subset of genes pertaining to their specific cellular identity...
September 2016: Experimental Dermatology
Dinushan C Kaluarachchi, Allison M Momany, Tamara D Busch, Lucas G Gimenez, Cesar Saleme, Viviana Cosentino, Kaare Christensen, John M Dagle, Kelli K Ryckman, Jeffrey C Murray
BACKGROUND: Preterm birth (PTB) is a major cause of neonatal mortality and morbidity. There is strong evidence of genetic susceptibility. Objective of this study was to identify genetic variants contributing to PTB. METHODS: Genotyping was performed for 24 single nucleotide polymorphisms (SNPs) in 4 candidate genes (NR5A2, FSHR, FOXP3, and SERPINH1). Genotyping was completed on 728 maternal triads (mother and maternal grandparents of a preterm infant). Data were analyzed with Family Based Association Test...
May 2016: Pediatric Research
Wael Naboulsi, Dominik A Megger, Thilo Bracht, Michael Kohl, Michael Turewicz, Martin Eisenacher, Don Marvin Voss, Jörg F Schlaak, Andreas-Claudius Hoffmann, Frank Weber, Hideo A Baba, Helmut E Meyer, Barbara Sitek
Hepatocellular carcinoma (HCC) is one of the most aggressive tumors, and the treatment outcome of this disease is improved when the cancer is diagnosed at an early stage. This requires biomarkers allowing an accurate and early tumor diagnosis. To identify potential markers for such applications, we analyzed a patient cohort consisting of 50 patients (50 HCC and 50 adjacent nontumorous tissue samples as controls) using two independent proteomics approaches. We performed label-free discovery analysis on 19 HCC and corresponding tissue samples...
January 4, 2016: Journal of Proteome Research
Yanni Wang, Zhe Liu, Zhen Li, Haina Shi, Yujun Kang, Jianfu Wang, Jinqiang Huang, Li Jiang
For rainbow trout Oncorhynchus mykiss, high temperature is a major abiotic stress that limits its growth and productivity. In this study, spleen macrophage respiratory burst (RB), serum superoxide dismutase (SOD), serum malondialdehyde (MDA) and mRNA expression of the SERPINH1 (HSP47) gene in different tissues (liver, spleen, head kidney and heart) were measured in unstressed (18 °C) and heat-stressed (25 °C) fish. Spleen macrophage RB activity, serum SOD activity and MDA content all increased significantly (P < 0...
April 2016: Fish Physiology and Biochemistry
Artur Galimov, Angelika Hartung, Roman Trepp, Alexander Mader, Martin Flück, Axel Linke, Matthias Blüher, Emanuel Christ, Jan Krützfeldt
UNLABELLED: Replacement of growth hormone (GH) in patients suffering from GH deficiency (GHD) offers clinical benefits on body composition, exercise capacity, and skeletal integrity. However, GH replacement therapy (GHRT) is also associated with insulin resistance, but the mechanisms are incompletely understood. We demonstrate that in GH-deficient mice (growth hormone-releasing hormone receptor (Ghrhr)(lit/lit)), insulin resistance after GHRT involves the upregulation of the extracellular matrix (ECM) and the downregulation of microRNA miR-29a in skeletal muscle...
December 2015: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Marieke Verleih, Andreas Borchel, Aleksei Krasnov, Alexander Rebl, Tomáš Korytář, Carsten Kühn, Tom Goldammer
Seasonal water temperatures can be stressful for fish in aquaculture and can therefore negatively influence their welfare. Although the kidney is the crucial organ associated with the primary stress response, knowledge about the stress-modulated kidney transcriptome in salmonids is limited. In the present study, we used a comparative microarray approach to characterize the general gene expression profiles of rainbow trout trunk kidney after a 2-week acclimation to mild heat (23 °C) and cold stress (8 °C)...
October 2015: Marine Biotechnology
Uschi Lindert, Mary Ann Weis, Jyoti Rai, Frank Seeliger, Ingrid Hausser, Tosso Leeb, David Eyre, Marianne Rohrbach, Cecilia Giunta
Osteogenesis imperfecta (OI) is a heritable connective tissue disease characterized by bone fragility and increased risk of fractures. Up to now, mutations in at least 18 genes have been associated with dominant and recessive forms of OI that affect the production or post-translational processing of procollagen or alter bone homeostasis. Among those, SERPINH1 encoding heat shock protein 47 (HSP47), a chaperone exclusive for collagen folding in the ER, was identified to cause a severe form of OI in dachshunds (L326P) as well as in humans (one single case with a L78P mutation)...
July 17, 2015: Journal of Biological Chemistry
Konstantinos C Tsolis, Ekaterini S Bei, Ioanna Papathanasiou, Fotini Kostopoulou, Vassiliki Gkretsi, Kalliopi Kalantzaki, Konstantinos Malizos, Michalis Zervakis, Aspasia Tsezou, Anastassios Economou
BACKGROUND: Osteoarthritis (OA) is a multi-factorial disease leading progressively to loss of articular cartilage and subsequently to loss of joint function. While hypertrophy of chondrocytes is a physiological process implicated in the longitudinal growth of long bones, hypertrophy-like alterations in chondrocytes play a major role in OA. We performed a quantitative proteomic analysis in osteoarthritic and normal chondrocytes followed by functional analyses to investigate proteome changes and molecular pathways involved in OA pathogenesis...
2015: Clinical Proteomics
Hamid Saeed, Mehwish Iqtedar
BACKGROUND: Telomerase deficiency has been associated with inadequate differentiation of mesenchymal stem cells. However, the effect of telomerase deficiency on differential regulation of osteoblast specific genes, based on functional gene grouping, during in vitro osteoblast differentiation has not been reported before. RESULTS: To examine these effects, Terc (-/-) BMSCs (bone marrow stromal stem cells) were employed which exhibited reduced proliferation during in vitro osteogenesis along with increased population doubling time and level compared to wild type (WT) BMSCs during the normal culture...
2015: Journal of Biomedical Science
Angela Burleigh, Steven McKinney, Jazmine Brimhall, Damian Yap, Peter Eirew, Steven Poon, Viola Ng, Adrian Wan, Leah Prentice, Lois Annab, J Carl Barrett, Carlos Caldas, Connie Eaves, Samuel Aparicio
INTRODUCTION: The extracellular signals regulating mammary epithelial cell growth are of relevance to understanding the pathophysiology of mammary epithelia, yet they remain poorly characterized. In this study, we applied an unbiased approach to understanding the functional role of signalling molecules in several models of normal physiological growth and translated these results to the biological understanding of breast cancer subtypes. METHODS: We developed and utilized a cytogenetically normal clonal line of hTERT immortalized human mammary epithelial cells in a fibroblast-enhanced co-culture assay to conduct a genome-wide small interfering RNA (siRNA) screen for evaluation of the functional effect of silencing each gene...
2015: Breast Cancer Research: BCR
Renata Moldenhauer Minillo, Nara Sobreira, Maria de Fatima de Faria Soares, Julie Jurgens, Hua Ling, Kurt N Hetrick, Kimberly F Doheny, David Valle, Decio Brunoni, Ana B Alvarez Perez
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype...
December 2014: Molecular Syndromology
Ivan Duran, Lisette Nevarez, Anna Sarukhanov, Sulin Wu, Katrina Lee, Pavel Krejci, Maryann Weis, David Eyre, Deborah Krakow, Daniel H Cohn
Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the disease. Among these include mutations in the genes SERPINH1 and FKBP10, which encode the type I procollagen chaperones HSP47 and FKBP65, respectively, and predominantly produce a moderately severe form of OI. Little is known about the biochemical consequences of the mutations and how they produce OI...
April 1, 2015: Human Molecular Genetics
YongCheol Yoo, Kyunghee Byun, Taewook Kang, Delger Bayarsaikhan, Jin Young Kim, Seyeoun Oh, Young Hye Kim, Se-Young Kim, Won-Il Chung, Seung U Kim, Bonghee Lee, Young Mok Park
Microglial activation in the central nervous system is a key event in the neuroinflammation that accompanies neurodegenerative diseases such as Alzheimer's disease (AD). Among cytokines involved in microglial activation, amyloid β (Aβ) peptide is known to be a key molecule in the induction of diverse inflammatory products, which may lead to chronic inflammation in AD. However, proteomic studies of microglia in AD are limited due to lack of proper cell or animal model systems. In this study, we performed a proteomic analysis of Aβ-stimulated human microglial cells using SILAC (stable isotope labeling with amino acids in cell culture) combined with LC-MS/MS...
January 2, 2015: Journal of Proteome Research
Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type II, perinatal lethal form; OI type III, severe and progressively deforming, with normal sclera; and OI type IV, moderate severity with normal sclera...
November 2014: Jornal de Pediatria
Natalie A Twine, Li Chen, Chi N Pang, Marc R Wilkins, Moustapha Kassem
The phenotype of osteoblastic (OB) cells in culture is currently defined using a limited number of markers of low sensitivity and specificity. For the clinical use of human skeletal (stromal, mesenchymal) stem cells (hMSC) in therapy, there is also a need to identify a set of gene markers that predict in vivo bone forming capacity. Thus, we used RNA sequencing to examine changes in expression for a set of skeletally-related genes across 8 time points between 0 and 12days of ex vivo OB differentiation of hMSC...
October 2014: Bone
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