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https://www.readbyqxmd.com/read/29392890/a-mutation-update-on-the-lds-associated-genes-tgfb2-3-and-smad2-3
#1
Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark Lindsay, David Liang, Sarju G Mehta, Jennifer Hague, Judith Verhagen, Ingrid van de Laar, Marja Wessels, Yvonne Detisch, Mieke van Haelst, Annette Baas, Klaske Lichtenbelt, Kees Braun, Denise van der Linde, Jolien Roos-Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst-Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS...
February 1, 2018: Human Mutation
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#2
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29280310/osteogenic-stimulation-of-human-adipose-derived-mesenchymal-stem-cells-using-a-fungal-metabolite-that-suppresses-the-polycomb-group-protein-ezh2
#3
Rebekah M Samsonraj, Amel Dudakovic, Bushra Manzar, Buer Sen, Allan B Dietz, Simon M Cool, Janet Rubin, Andre J van Wijnen
Strategies for musculoskeletal tissue regeneration apply adult mesenchymal stem/stromal cells (MSCs) that can be sourced from bone marrow- and lipo-aspirates. Adipose tissue-derived MSCs are more easily harvested in the large quantities required for skeletal tissue-engineering approaches, but are generally considered to be less osteogenic than bone marrow MSCs. Therefore, we tested a new molecular strategy to improve their osteogenic lineage-differentiation potential using the fungal metabolite cytochalasin D (CytoD)...
December 27, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29244857/maternal-plasma-angiogenic-and-inflammatory-factor-profiling-in-foetal-down-syndrome
#4
Monika Zbucka-Kretowska, Karol Charkiewicz, Joanna Goscik, Slawomir Wolczynski, Piotr Laudanski
OBJECTIVE AND DESIGN: Angiogenic factors are proteins that are related to certain foetal chromosomal abnormalities. The aim of this study was to determine the concentration of 60 angiogenic factors in the plasma of women with offspring possessing trisomy 21/Down syndrome (DS). METHOD: After analysing karyotyping results, we selected 20 patients with foetuses possessing DS, and for the control group, we selected 28 healthy patients with uncomplicated pregnancies who delivered healthy newborns at term (i...
2017: PloS One
https://www.readbyqxmd.com/read/29190897/biomarkers-identified-for-prostate-cancer-patients-through-genome-scale-screening
#5
Lei-Yun Wang, Jia-Jia Cui, Tao Zhu, Wei-Hua Shao, Yi Zhao, Sai Wang, Yu-Peng Zhang, Ji-Chu Wu, Le Zhang
Prostate cancer is a threat to men and usually occurs in aged males. Though prostate specific antigen level and Gleason score are utilized for evaluation of the prostate cancer in clinic, the biomarkers for this malignancy have not been widely recognized. Furthermore, the outcome varies across individuals receiving comparable treatment regimens and the underlying mechanism is still unclear. We supposed that genetic feature may be responsible for, at least in part, this process and conducted a two-cohort study to compare the genetic difference in tumorous and normal tissues of prostate cancer patients...
November 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29167509/cartilage-intermediate-layer-protein-1-cilp1-a-novel-mediator-of-cardiac-extracellular-matrix-remodelling
#6
Frans A van Nieuwenhoven, Chantal Munts, Roel C Op't Veld, Arantxa González, Javier Díez, Stephane Heymans, Blanche Schroen, Marc van Bilsen
Heart failure is accompanied by extracellular matrix (ECM) remodelling, often leading to cardiac fibrosis. In the present study we explored the significance of cartilage intermediate layer protein 1 (CILP1) as a novel mediator of cardiac ECM remodelling. Whole genome transcriptional analysis of human cardiac tissue samples revealed a strong association of CILP1 with many structural (e.g. COL1A2 r(2) = 0.83) and non-structural (e.g. TGFB3 r(2) = 0.75) ECM proteins. Gene enrichment analysis further underscored the involvement of CILP1 in human cardiac ECM remodelling and TGFβ signalling...
November 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29161966/altered-downstream-target-gene-expression-of-the-placental-vitamin-d-receptor-in-human-idiopathic-fetal-growth-restriction
#7
Thy Ph Nguyen, Hannah Ej Yong, Tejasvy Chollangi, Shaun P Brennecke, Susan J Fisher, Euan M Wallace, Peter R Ebeling, Padma Murthi
Fetal growth restriction (FGR) affects up to 5% of pregnancies and is associated with significant perinatal complications. Maternal deficiency of vitamin D, a secosteroid hormone, is common in FGR-affected pregnancies. We recently demonstrated that decreased expression of the vitamin D receptor (VDR) in idiopathic FGR placentae could impair trophoblast growth. As strict regulation of cell-cycle genes in trophoblast cells is critical for optimal feto-placental growth, we hypothesised that pathologically decreased placental VDR contributes to aberrant regulation of cell-cycle genes...
November 22, 2017: Cell Cycle
https://www.readbyqxmd.com/read/29104726/microrna-34a-a-key-regulator-in-the-hallmarks-of-renal-cell-carcinoma
#8
Eman A Toraih, Afaf T Ibrahiem, Manal S Fawzy, Mohammad H Hussein, Saeed Awad M Al-Qahtani, Aly A M Shaalan
Renal cell carcinoma (RCC) incidence has increased over the past two decades. Recent studies reported microRNAs as promising biomarkers for early cancer detection, accurate prognosis, and molecular targets for future treatment. This study aimed to evaluate the expression levels of miR-34a and 11 of its bioinformatically selected target genes and proteins to test their potential dysregulation in RCC. Quantitative real-time PCR for miR-34a and its targets; MET oncogene; gene-regulating apoptosis (TP53INP2 and DFFA); cell proliferation (E2F3); and cell differentiation (SOX2 and TGFB3) as well as immunohistochemical assay for VEGFA, TP53, Bcl2, TGFB1, and Ki67 protein expression have been performed in 85 FFPE RCC tumor specimens...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29051557/transforming-growth-factor-%C3%AE-signaling-pathway-associated-genes-smad2-and-tgfbr2-are-implicated-in-metabolic-syndrome-in-a-taiwanese-population
#9
Eugene Lin, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Shih-Jen Tsai
The transforming growth factor-β (TGF-β) signaling pathway and its relevant genes have been correlated with an increased risk of developing various hallmarks of metabolic syndrome (MetS). In this study, we assessed whether the TGF-β signaling pathway-associated genes of SMAD family member 2 (SMAD2), SMAD3, SMAD4, transforming growth factor beta 1 (TGFB1), TGFB2, TGFB3, transforming growth factor beta receptor 1 (TGFBR1), and TGFBR2 are associated with MetS and its individual components independently, through complex interactions, or both in a Taiwanese population...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29030341/macrophage-overexpression-of-matrix-metalloproteinase-9-in-aged-mice-improves-diastolic-physiology-and-cardiac-wound-healing-following-myocardial-infarction
#10
Cesar A Meschiari, Mira Jung, Rugmani Padmanabhan Iyer, Andriy Yabluchanskiy, Hiroe Toba, Michael R Garrett, Merry L Lindsey
Matrix metalloproteinase (MMP)-9 increases in the myocardium with advanced age and after MI. Because young transgenic (TG) mice overexpressing human MMP-9 only in macrophages mice show better outcomes post-MI, while aged TG mice show a worse aging phenotype, we wanted to evaluate the combination effect to see if the detrimental effect of aging counteracted the benefits of macrophage MMP-9 overexpression. We used 17-28 month old male and female C57BL/6J wild type (WT) mice and TG mice (n = 10-21/group) to evaluate the effects of aging superimposed on MI...
October 13, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28969601/genome-wide-analysis-of-dna-methylation-profiles-on-sheep-ovaries-associated-with-prolificacy-using-whole-genome-bisulfite-sequencing
#11
Yanli Zhang, Fengzhe Li, Xu Feng, Hua Yang, Aoxiang Zhu, Jing Pang, Le Han, Tingting Zhang, Xiaolei Yao, Feng Wang
BACKGROUND: Ovulation rate and litter size are important reproductive traits in sheep with high economic value. Recent work has revealed a potential link between DNA methylation and prolificacy. However, a genome-wide study that sought to identify potential DNA methylation sites involved in sheep prolificacy indicated that it is still unknown. Here, we aimed to investigate the genome-wide DNA methylation profiles of Hu sheep ovaries by comparing a high-prolificacy group (HP, litter size of three for at least 2 consecutive lambings) and low prolificacy group (LP, litter size of one for at least 2 consecutive lambings) using deep whole-genome bisulfite sequencing (WGBS)...
October 2, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28728367/comparative-analysis-on-genome-wide-dna-methylation-in-longissimus-dorsi-muscle-between-small-tailed-han-and-dorper%C3%A3-small-tailed-han-crossbred-sheep
#12
Yang Cao, Hai-Guo Jin, Hui-Hai Ma, Zhi-Hui Zhao
OBJECTIVE: The objective of this study was to compare the DNA methylation profile in the longissimus dorsi muscle between Small Tailed Han and Dorper×Small Tailed Han crossbred sheep which were known to exhibit significant difference in meat-production. METHODS: Six samples (three in each group) were subjected to the methylated DNA immunoprecipitation sequencing (MeDIP-seq) and subsequent bioinformatics analyses to detect differentially methylated regions (DMRs) between the two groups...
November 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28570402/genetic-factors-involved-in-mandibular-prognathism
#13
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
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#14
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
BACKGROUND: 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. MATERIALS AND METHODS: 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
https://www.readbyqxmd.com/read/28161961/genome-wide-gene-expression-pattern-underlying-differential-host-response-to-high-or-low-pathogenic-h5n1-avian-influenza-virus-in-ducks
#15
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
https://www.readbyqxmd.com/read/28148567/critical-role-of-the-camp-pka-pathway-in-hyperglycemia-induced-epigenetic-activation-of-fibrogenic-program-in-the-kidney
#16
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...
May 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28133786/haplotype-based-gene-gene-interaction-of-bone-morphogenetic-protein-4-and-interferon-regulatory-factor-6-in-the-etiology-of-non-syndromic-cleft-lip-with-or-without-cleft-palate-in-a-chilean-population
#17
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
https://www.readbyqxmd.com/read/28115208/activin-a-stimulates-migration-of-the-fallopian-tube-epithelium-an-origin-of-high-grade-serous-ovarian-cancer-through-non-canonical-signaling
#18
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
https://www.readbyqxmd.com/read/28008464/long-term-effects-of-the-collagenase-of-the-bacterium-clostridium-histolyticum-for-the-treatment-of-capsular-fibrosis-after-silicone-implants
#19
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
https://www.readbyqxmd.com/read/27609985/seminal-plasma-transforming-growth-factor-%C3%AE-activin-a-and-follistatin-fluctuate-within-men-over-time
#20
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
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