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Yang Cao, Hai-Guo Jin, Hui-Hai Ma, Zhihui Zhao
Objective: The objective of this study was to compare the DNA methylation profile in the longissimus dorsi muscle (LDM) between Small Tailed Han and Dorper × Small Tailed Han crossbred sheep which were known to exhibit significant difference in meat-production. Methods: Six samples were subjected to MeDIP-seq and subsequent bioinformatics analyses to detect differentially methylated regions (DMRs) between the two groups. Results: 23.08 Gb clean data from six samples were generated and 808 DMRs were identified in gene body or their neighboring up/downstream regions...
June 27, 2017: Asian-Australasian Journal of Animal Sciences
Anna Doraczynska-Kowalik, Kamil H Nelke, Wojciech Pawlak, Maria M Sasiadek, Hanna Gerber
Mandibular prognathism is defined as an abnormal forward projection of the mandible beyond the standard relation to the cranial base and it is usually categorized as both a skeletal Class III pattern and Angle Class III malocclusion. The etiology of mandibular prognathism is still uncertain, with various genetic, epigenetic, and environmental factors possibly involved. However, many reports on its coexistence in both twins and segregation in families suggest the importance of genetic influences. A multifactorial and polygenic background with a threshold for expression or an autosomal dominant mode with incomplete penetrance and variable expressivity are the most probable inheritance patterns...
May 31, 2017: Journal of Craniofacial Surgery
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
A Kumar, P Vijayakumar, P N Gandhale, P B Ranaware, H Kumar, D D Kulkarni, A A Raut, A Mishra
The differences in the influenza viral pathogenesis observed between different pathogenic strains are associated with distinct properties of virus strains and the host immune responses. In order to determine the differences in the duck immune response against two different pathogenic strains, we studied genome-wide host immune gene response of ducks infected with A/duck/India/02CA10/2011 and A/duck/Tripura/103597/2008 H5N1 viruses using custom-designed microarray. A/duck/India/02CA10/2011 is highly pathogenic virus (HP) to ducks, whereas A/duck/Tripura/103597/2008 is a low pathogenic (LP) virus strain...
2017: Acta Virologica
Dilip K Deb, Riyue Bao, Yan Chun Li
Hyperglycemia is a major pathogenic factor that promotes diabetic nephropathy, but the underlying mechanism remains incompletely understood. Here, we show that high glucose induced cAMP response element-binding protein (CREB)-binding protein (CBP)-mediated H3K9/14 hyperacetylation in approximately 5000 gene promoters in glomerular mesangial cells, including those of Tgfb1, Tgfb3, and Ctgf, the major profibrotic factors that are known to drive diabetic renal fibrogenesis. In these promoters, H3K9/14 hyperacetylation was closely associated with NF-κB or CREB motifs...
February 1, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Rafael Blanco, Alicia Colombo, Rosa Pardo, José Suazo
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We previously reported haplotype associations for polymorphic variants of interferon regulatory factor 6 (IRF6), msh homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4), and transforming growth factor beta 3 (TGFB3) in Chile. Here, we analyzed the haplotype-based gene-gene interaction for markers of these genes and NSCL/P risk in the Chilean population...
January 30, 2017: European Journal of Oral Sciences
Matthew Dean, David A Davis, Joanna E Burdette
Factors that stimulate the migration of fallopian tube epithelial (FTE)-derived high-grade serous ovarian cancer (HGSOC) to the ovary are poorly elucidated. This study characterized the effect of the ovarian hormone, activin A, on normal FTE and HGSOC. Activin A and TGFβ1 induced an epithelial-to-mesenchymal transition in murine oviductal epithelial (MOE) cells, but only activin A increased migration. The migratory effect of activin A was independent of Smad2/3 and required phospho-AKT, phospho-ERK, and Rac1...
April 10, 2017: Cancer Letters
Sebastian Fischer, Yannick Diehm, Thomas Henzler, Martin R Berger, Jonas Kolbenschlag, Anne Latz, Ericka M Bueno, Christoph Hirche, Ulrich Kneser, Bohdan Pomahac
BACKGROUND: Capsular contracture remains the most frequent long-term complication after augmentation mammoplasty with silicone implants. Thereby, the main part of the fibrotic capsule is collagen. The collagenase of the bacterium Clostridium histolyticum is approved for the treatment of fibrotic diseases and has been demonstrated to be effective for capsular fibrosis treatment in the short term. However, long-term effectiveness is currently unknown but mandatory for clinical utilization...
February 2017: Aesthetic Plastic Surgery
David J Sharkey, Kelton P Tremellen, Nancy E Briggs, Gustaaf A Dekker, Sarah A Robertson
STUDY QUESTION: Do seminal plasma transforming growth factor-β (TGFB) cytokines vary within individuals over time, and does this relate to sperm parameters, age or prior abstinence? SUMMARY ANSWER: Activin A and follistatin, and to a lesser extent TGFB1, TGFB2 and TGFB3, vary within individuals over time, in association with duration of abstinence. WHAT IS ALREADY KNOWN: Seminal plasma TGFB cytokines can influence sperm function and reproductive success through interactions with the female reproductive tract after coitus...
October 2016: Human Reproduction
Hsiu-Huei Peng, Nai-Chung Chang, Kuo-Ting Chen, Jang-Jih Lu, Pi-Yueh Chang, Shih-Cheng Chang, Yah-Huei Wu-Chou, Yi-Ting Chou, Wanni Phang, Po-Jen Cheng
BACKGROUND: Nonsyndromic orofacial cleft is a common birth defect with a complex etiology, including multiple genetic and environmental risk factors. Recent whole genome analyses suggested associations between nonsyndromic orofacial cleft and up to 18 genetic risk loci (ABCA4, BMP4, CRISPLD2, GSTT1, FGF8, FGFR2, FOXE1, IRF6, MAFB, MSX1, MTHFR, MYH9, PDGFC, PVRL1, SUMO1, TGFA, TGFB3, and VAX1), each of which confers a different relative risk in different populations. We evaluate the nonsynonymous variants in these 18 genetic risk loci in nonsyndromic orofacial clefts and normal controls to clarify the specific variants in Taiwanese population...
August 15, 2016: BMC Medical Genetics
Lara Paracchini, Laura Mannarino, Ilaria Craparotta, Chiara Romualdi, Robert Fruscio, Tommaso Grassi, Vittoria Fotia, Giulia Caratti, Patrizia Perego, Enrica Calura, Luca Clivio, Maurizio D'Incalci, Luca Beltrame, Sergio Marchini
Stage III/IV epithelial ovarian cancer (EOC) is a systemic disease. The clonal relationship among different tumor lesions at diagnosis (spatial heterogeneity) and how tumor clonal architecture evolves over time (temporal heterogeneity) have not yet been defined. Such knowledge would help to develop new target-based strategies, as biomarkers which can adjudge the success of therapeutic intervention should be independent of spatial and temporal heterogeneity. The work described in this paper addresses spatial and temporal heterogeneity in a cohort of 71 tumor biopsies using targeted NGS technology...
July 9, 2016: Oncotarget
Jihong Du, Jianhua Deng
BACKGROUND The aim of this study was to investigate whether the TGFA/TGFB3/MSX1 gene polymorphisms and haplotypes lead to individual differences between congenital non-syndromic hearing impairment (NSHI) patients and normal people in a Chinese population and to analyze the risk factors for NSHI. MATERIAL AND METHODS Between December 2010 and September 2014, 343 congenital NSHI patients were recruited as cases, and 272 healthy subjects were recruited as controls. Denaturing high-performance liquid chromatography (DHPLC) was used to identify genotypes, SHEsis software was used to conduct gene linkage disequilibrium and haplotype analyses, and regression analysis was performed to identify risk factors for congenital NSHI...
June 29, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Mitsuro Kanda, Dai Shimizu, Tsutomu Fujii, Haruyoshi Tanaka, Masahiro Shibata, Naoki Iwata, Masamichi Hayashi, Daisuke Kobayashi, Chie Tanaka, Suguru Yamada, Goro Nakayama, Hiroyuki Sugimoto, Masahiko Koike, Michitaka Fujiwara, Yasuhiro Kodera
Identification of novel gastric cancer (GC)-related molecules is necessary to improve management of patients with GC in both diagnostic and therapeutic aspects. The aim of the present study was to determine whether protein arginine methyltransferase 5 (PRMT5) acts as an oncogene in the progression of GC and whether it serves as a novel diagnostic marker and therapeutic target. We conducted global expression profiling of GC cell lines and RNA interference experiments to evaluate the effect of PRMT5 expression on the phenotype of GC cells...
September 2016: International Journal of Oncology
Eric M Isselbacher, Christian Lacks Lino Cardenas, Mark E Lindsay
Thoracic aortic aneurysm is a potentially life-threatening condition in that it places patients at risk for aortic dissection or rupture. However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite limited. A genetic predisposition to thoracic aortic aneurysm has been established, and gene discovery in affected families has identified several major categories of gene alterations. The first involves mutations in genes encoding various components of the transforming growth factor beta (TGF-β) signaling cascade (FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3 and SKI), and these conditions are known collectively as the TGF-β vasculopathies...
June 14, 2016: Circulation
Enrica Bianchi, Kim Boekelheide, Mark Sigman, Dolores J Lamb, Susan J Hall, Kathleen Hwang
Post-operative adhesions are a critical problem in pelvic and abdominal surgery despite a multitude of studies dedicated to finding modalities to prevent their occurrence. Ghrelin administration promotes an anti-fibrotic response in a surgical mouse model of adhesion-induction, but the mechanisms mediating this effect have not been established. In the current study, the molecular mechanisms that underlie the anti-adhesion effect of ghrelin were investigated. Post-surgical adhesions were experimentally created in C57BL/6 wild-type mice via a combination of ischemic peritoneal buttons and cecal multiple abrasions...
2016: PloS One
Roberto Gonçalves Junior, Aristides da Rosa Pinheiro, José Jorge Schoichet, Carlos Henrique Ramirez Nunes, Rackel Gonçalves, Leticia Ladeira Bonato, Valquiria Quinelato, Leonardo Santos Antunes, Erika Calvano Küchler, Julie Lobo, Ricardo de Mello Villas-Bôas, Alexandre Rezende Vieira, José Mauro Granjeiro, Priscila Ladeira Casado
Subjects susceptible to chronic periodontitis (CP) show a high risk for the development of periimplantitis (PI). Both diseases are multifactorial, presenting similarities in their pathophysiology and polygenic profile. MMP-13 (matrix metalloproteinases 13/ collagenase 3) is a collagenolytic enzyme, which expression is induced by TGF beta 3 (transforming growth factor type 3) in human gingival fibroblasts and inhibited by TIMP-2 (tissue inhibitor of metalloproteinase type 2). The aim of this study was to investigate the occurrence of periimplantitis (PI) in subjects with history of chronic periodontitis (CP) and polymorphisms frequency in MMP13, TIMP2 and TGFB3 genes...
March 2016: Brazilian Dental Journal
Liping Feng, Friederike L Jayes, Lauren Nc Johnson, David W Schomberg, Phyllis C Leppert
Utilizing both primary myometrial cells and a myometrial cell line, we show here that myometrial cells undergo transition to a myofibroblast-like phenotype after a biological insult of 72 hours serum starvation and serum add-back (SB: 1% to 10% FBS). We also found that thrombospondin-1 was increased and that the transforming growth factor-beta (TGFB)-SMAD3/4 pathway was activated. This pathway is a key mediator of fibrosis and extracellular matrix (ECM) deposition. Applying the same insult supplemented with TGFB3 (1-10ng/ml) and ascorbic acid (100µg/ml) in the serum add-back treatment, we further demonstrated that cells migrated into nodules containing collagen and fibronectin...
March 22, 2016: Current Protein & Peptide Science
In-Sul Hwang, D ae-Jin Kwon, Tae-Uk Kwak, Jeong-Woong Lee, Gi-Sun Im, Seongsoo Hwang
BACKGROUND: The primary problems with porcine oocyte vitrification are their low viability and development; both need improvement. OBJECTIVE: This study was designed to improve the survival and developmental rates in vitrified-warmed porcine oocytes. MATERIALS AND METHODS: Porcine oocytes matured in vitro were vitrified-warmed with Cryotop. Then the oocytes were supplemented with Q10 during recovery culture. RESULTS: The survival rates immediately after warming were 92...
January 2016: Cryo Letters
Bin Yue, YaZhou Lin, XueXiao Ma, HongFei Xiang, ChenSheng Qiu, JianHua Zhang, LongYang Li, BoHua Chen
STUDY DESIGN: The ability of lentivirus vector (LV) survivin-transforming growth factor beta 3 (TGFB3)-tissue inhibitor of metalloproteinases 1 (TIMP1) on slowing disc degeneration was evaluated by an animal experiment. OBJECTIVE: The aim of the study was to investigate the effect of LV survivin-TGFB3-TIMP1 on slowing disc degeneration in an in vivo rabbit model. SUMMARY OF BACKGROUND DATA: Cell apoptosis, increase of catabolic activity, and decrease of anabolic activity were the mechanisms of disc degeneration...
June 2016: Spine
Lucas L Verardo, Fabyano F Silva, Marcos S Lopes, Ole Madsen, John W M Bastiaansen, Egbert F Knol, Mathew Kelly, Luis Varona, Paulo S Lopes, Simone E F Guimarães
BACKGROUND: Reproductive traits such as number of stillborn piglets (SB) and number of teats (NT) have been evaluated in many genome-wide association studies (GWAS). Most of these GWAS were performed under the assumption that these traits were normally distributed. However, both SB and NT are discrete (e.g. count) variables. Therefore, it is necessary to test for better fit of other appropriate statistical models based on discrete distributions. In addition, although many GWAS have been performed, the biological meaning of the identified candidate genes, as well as their functional relationships still need to be better understood...
2016: Genetics, Selection, Evolution: GSE
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