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https://www.readbyqxmd.com/read/27609985/seminal-plasma-transforming-growth-factor-%C3%AE-activin-a-and-follistatin-fluctuate-within-men-over-time
#1
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
https://www.readbyqxmd.com/read/27527345/nonsynonymous-variants-in-myh9-and-abca4-are-the-most-frequent-risk-loci-associated-with-nonsyndromic-orofacial-cleft-in-taiwanese-population
#2
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...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27409340/regional-and-temporal-heterogeneity-of-epithelial-ovarian-cancer-tumor-biopsies-implications-for-therapeutic-strategies
#3
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
https://www.readbyqxmd.com/read/27356075/associations-between-tgfa-tgfb3-msx1-gene-polymorphisms-and-congenital-non-syndromic-hearing-impairment-in-a-chinese-population
#4
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...
2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27315569/protein-arginine-methyltransferase-5-is-associated-with-malignant-phenotype-and-peritoneal-metastasis-in-gastric-cancer
#5
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
https://www.readbyqxmd.com/read/27297344/hereditary-influence-in-thoracic-aortic-aneurysm-and-dissection
#6
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
https://www.readbyqxmd.com/read/27082244/ghrelin-inhibits-post-operative-adhesions-via-blockage-of-the-tgf-%C3%AE-signaling-pathway
#7
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
https://www.readbyqxmd.com/read/27058373/mmp13-timp2-and-tgfb3-gene-polymorphisms-in-brazilian-chronic-periodontitis-and-periimplantitis-subjects
#8
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
https://www.readbyqxmd.com/read/27001065/biochemical-pathways-and-myometrial-cell-differentiation-leading-to-nodule-formation-containing-collagen-and-fibronectin
#9
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
https://www.readbyqxmd.com/read/26964027/improved-survival-and-developmental-rates-in-vitrified-warmed-pig-oocytes-after-recovery-culture-with-coenzyme-q10
#10
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
https://www.readbyqxmd.com/read/26839993/survivin-tgfb3-timp1-gene-therapy-via-lentivirus-vector-slows-the-course-of-intervertebral-disc-degeneration-in-an-in-vivo-rabbit-model
#11
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
https://www.readbyqxmd.com/read/26830357/revealing-new-candidate-genes-for-reproductive-traits-in-pigs-combining-bayesian-gwas-and-functional-pathways
#12
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
https://www.readbyqxmd.com/read/26612435/tgf%C3%AE-3-tgfb3-polymorphism-is-associated-with-male-infertility
#13
Marek Droździk, Maciej Kaczmarek, Damian Malinowski, Urszula Broś, Anna Kazienko, Rafał Kurzawa, Mateusz Kurzawski
Factors affecting the blood-testis barrier function may be involved in testicular damage and male infertility. Two cytokines play an important role in the barrier regulation, namely transforming growth factor beta 3 (TGF-β3) and tumor necrosis factor (TNF-α). The aim of this study was to investigate the potential association between TGF-β3 (TGFB3) and TNF-α (TNF) gene polymorphisms and male infertility. A total of 846 subjects, 423 diagnosed with male infertility and 423 fertile men were enrolled. TGFB3 (rs2268626:T > C, rs3917158:C > T, rs2284792:A > G, rs2268625:T > C, rs3917187:C > T) and TNF (rs1800629:-308G > A) gene polymorphisms were genotyped...
November 27, 2015: Scientific Reports
https://www.readbyqxmd.com/read/26611546/identification-of-genome-wide-selection-signatures-in-the-limousin-beef-cattle-breed
#14
A Gurgul, T Szmatoła, K Ropka-Molik, I Jasielczuk, K Pawlina, E Semik, M Bugno-Poniewierska
The study is aimed at identifying selection footprints within the genome of Limousin cattle. With the use of Extended Haplotype Homozygosity test, supplemented with correction for variation in recombination rates across the genome, we created map of selection footprints and detected 173 significant (p < 0.01) core haplotypes being potentially under positive selection. Within these regions, a number of candidate genes associated inter alia with skeletal muscle growth (GDF15, BMP7, BMP4 and TGFB3) or postmortem proteolysis and meat maturation (CAPN1 and CAPN5) were annotated...
August 2016: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
https://www.readbyqxmd.com/read/26446364/genetics-of-hereditary-large-vessel-diseases
#15
REVIEW
Takayuki Morisaki, Hiroko Morisaki
Recent progress in the study of hereditary large vessel diseases such as Marfan syndrome (MFS) have not only identified responsible genes but also provided better understanding of the pathophysiology and revealed possible new therapeutic targets. Genes identified for these diseases include FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, SKI, EFEMP2, COL3A1, FLNA, ACTA2, MYH11, MYLK and SLC2A10, as well as others. Their dysfunction disrupts the function of transforming growth factor-β (TGF-β) signaling pathways, as well as that of the extracellular matrix and smooth muscle contractile apparatus, resulting in progression of structural damage to large vessels, including aortic aneurysms and dissections...
January 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/26427011/reduced-dentin-matrix-protein-expression-in-camurati-engelmann-disease-transgenic-mouse-model
#16
Angela Gullard, Christina M Croney, Xiangwei Wu, Olga Mamaeva, Philip Sohn, Xu Cao, Mary MacDougall
UNLABELLED: Overexpression of transforming growth factor-β1 (TGF-β1) has been shown to lead to mineralization defects in both the enamel and dentin layers of teeth. A TGFB1 point mutation (H222D), derived from published cases of Camurati-Engelmann disease (CED), has been shown to constitutively activate TGF-β1, leading to excess bone matrix production. Although CED has been well documented in clinical case reports, there are no published studies on the effect of CED on the dentition...
May 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/26382756/localization-of-tgf-%C3%AE-and-tgf-%C3%AE-receptor-in-bovine-term-placentome-and-expression-differences-between-spontaneous-and-induced-parturition
#17
COMPARATIVE STUDY
Hiroki Hirayama, Keisuke Koyama, Ken Sawai, Takashi Fujii, Akira Naito, Shigeo Fukuda, Soichi Kageyama
INTRODUCTION: Mechanisms of detachment of fetal membrane after parturition in cattle are poorly understood. Glucocorticoids trigger the initiation of parturition and may facilitate the placental maturation. We compared the disappearance of trophoblast binucleate cells (BNCs) and expression of transforming growth factor-β (TGFB) in term placentomes between spontaneous and induced parturition to investigate the influences of glucocorticoids on the placental maturity. METHODS: Cows were delivered spontaneously (SP group) or after the administration of prostaglandin (PG) F(2)α (PG group); dexamethasone, PGF(2)α, and estriol (DEX group); and triamcinolone acetonide, PGF(2)α, and betamethasone (BET group) and placentomes were collected immediately after parturition...
November 2015: Placenta
https://www.readbyqxmd.com/read/26184463/exome-sequencing-identifies-a-novel-heterozygous-tgfb3-mutation-in-a-disorder-overlapping-with-marfan-and-loeys-dietz-syndrome
#18
Alma Kuechler, Janine Altmüller, Peter Nürnberg, Stefan Kotthoff, Christian Kubisch, Guntram Borck
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are clinically related autosomal dominant systemic connective tissue disorders. Although mutations in several genes of the TGF-beta signalling and related pathways have been identified in the past (e.g. FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2), there are still many individuals with "marfanoid" phenotypes in whom no causative mutations are identified. We performed whole exome sequencing in two of three affected individuals from a family with phenotypic features overlapping MFS and LDS...
October 2015: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/26153732/natural-bone-fragmentation-in-the-blind-cave-dwelling-fish-astyanax-mexicanus-candidate-gene-identification-through-integrative-comparative-genomics
#19
COMPARATIVE STUDY
Joshua B Gross, Bethany A Stahl, Amanda K Powers, Brian M Carlson
Animals that colonize dark and nutrient-poor subterranean environments evolve numerous extreme phenotypes. These include dramatic changes to the craniofacial complex, many of which are under genetic control. These phenotypes can demonstrate asymmetric genetic signals wherein a QTL is detected on one side of the face but not the other. The causative gene(s) underlying QTL are difficult to identify with limited genomic resources. We approached this task by searching for candidate genes mediating fragmentation of the third suborbital bone (SO3) directly inferior to the orbit of the eye...
January 2016: Evolution & Development
https://www.readbyqxmd.com/read/26151888/silicone-implants-with-smooth-surfaces-induce-thinner-but-denser-fibrotic-capsules-compared-to-those-with-textured-surfaces-in-a-rodent-model
#20
Sebastian Fischer, Christoph Hirche, Matthias A Reichenberger, Jurij Kiefer, Yannick Diehm, Srinivasan Mukundan, Muayyad Alhefzi, Ericka M Bueno, Ulrich Kneser, Bohdan Pomahac
PURPOSE: Capsular contracture is the most frequent long-term complication after implant-based breast reconstruction or augmentation. The aim of this study was to evaluate the impact of implant surface properties on fibrotic capsule formation in an animal model. MATERIALS AND METHODS: Twenty-four rats received 1 scaled down silicone implant each; 12 of the rats received implants with textured surfaces, and the other 12 received implants with smooth surfaces. After 60 and 120 days, rats in each group underwent 7-Tesla Magnetic Resonance Imaging (MRI) and high-resolution ultrasound (HR-US), and specimens of the capsules were acquired and used to measure capsule thickness through histology, collagen density through picro sirius red staining, and analyses of expression of pro-fibrotic and inflammatory genes (Collagen1-4, TGFb1, TGFb3, Smad3, IL4, IL10, IL13, CD68) through qRT-PCR...
2015: PloS One
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