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https://www.readbyqxmd.com/read/28806841/genetic-polymorphisms-as-predictive-markers-of-response-to-growth-hormone-therapy-in-children-with-growth-hormone-deficiency
#1
Anna Maria Jung, Martin Zenker, Christina Lißewski, Denny Schanze, Stefan Wagenpfeil, Tilman Robert Rohrer
Objective Growth hormone (GH) deficiency (GHD) is commonly treated with recombinant human GH (rhGH). Individual response to rhGH therapy varies widely and there is evidence that variations in growth-related genes, e. g. the GH receptor (GHR) gene, may impact treatment response. We aimed to identify genetic polymorphisms which could serve as predictive markers of response to rhGH therapy. Methods We conducted a genetic analysis of single nucleotide polymorphisms (SNPs) and the GHR exon 3 deletion in 101 paediatric GHD patients receiving rhGH...
August 14, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28801227/estrogen-directly-stimulates-lhb-expression-at-the-pituitary-level-during-puberty-in-female-zebrafish
#2
Gaofei Li, Haipei Tang, Yu Chen, Yike Yin, Satoshi Ogawa, Meifeng Liu, Yin Guo, Xin Qi, Yun Liu, Ishwar S Parhar, Xiaochun Liu, Haoran Lin
The LHb expression is up-regulated during puberty in female zebrafish. However, the molecular mechanism underlying how LHb expression is regulated during puberty remains largely unknown. In this study, we found that the mRNA expression levels of lhb, fshb and cyp19a1b were up-regulated along with the puberty onset in zebrafish. Among the three nuclear estrogen receptors (nERs), the esr2b is the only type whose expression is significantly up-regulated during puberty onset in the pituitary. However, in situ hybridization results revealed that lhb mRNA was colocalized with esr1 and esr2a but not esr2b...
August 8, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28799536/estrogen-receptor-esr1-mutation-in-bone-metastases-from-breast-cancer
#3
Stephan Bartels, Matthias Christgen, Angelina Luft, Sascha Persing, Kai Jödecke, Ulrich Lehmann, Hans Kreipe
Activating mutations of estrogen receptor α gene (ESR1) in breast cancer can cause endocrine resistance of metastatic tumor cells. The skeleton belongs to the metastatic sides frequently affected by breast cancer. The prevalence of ESR1 mutation in bone metastasis and the corresponding phenotype are not known. In this study bone metastases from breast cancer (n=231) were analyzed for ESR1 mutation. In 27 patients (12%) (median age 73 years, range: 55-82 years) activating mutations of ESR1 were detected. The most frequent mutation was p...
August 11, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28794688/aberrantly-methylated-differentially-expressed-genes-and-pathways-in-colorectal-cancer
#4
Jingwei Liu, Hao Li, Liping Sun, Zhenning Wang, Chengzhong Xing, Yuan Yuan
BACKGROUND: Methylation plays an important role in the etiology and pathogenesis of colorectal cancer (CRC). This study aimed to identify aberrantly methylated-differentially expressed genes (DEGs) and pathways in CRC by comprehensive bioinformatics analysis. METHODS: Data of gene expression microarrays (GSE68468, GSE44076) and gene methylation microarrays (GSE29490, GSE17648) were downloaded from GEO database. Aberrantly methylated-DEGs were obtained by GEO2R. Functional and enrichment analyses of selected genes were performed using DAVID database...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28794284/genomic-profiling-of-er-breast-cancers-after-short-term-estrogen-suppression-reveals-alterations-associated-with-endocrine-resistance
#5
Jennifer M Giltnane, Katherine E Hutchinson, Thomas P Stricker, Luigi Formisano, Christian D Young, Monica V Estrada, Mellissa J Nixon, Liping Du, Violeta Sanchez, Paula Gonzalez Ericsson, Maria G Kuba, Melinda E Sanders, Xinmeng J Mu, Eliezer M Van Allen, Nikhil Wagle, Ingrid A Mayer, Vandana Abramson, Henry Gόmez, Monica Rizzo, Weiyi Toy, Sarat Chandarlapaty, Erica L Mayer, Jason Christiansen, Danielle Murphy, Kerry Fitzgerald, Kai Wang, Jeffrey S Ross, Vincent A Miller, Phillip J Stephens, Roman Yelensky, Levi Garraway, Yu Shyr, Ingrid Meszoely, Justin M Balko, Carlos L Arteaga
Inhibition of proliferation in estrogen receptor-positive (ER(+)) breast cancers after short-term antiestrogen therapy correlates with long-term patient outcome. We profiled 155 ER(+)/human epidermal growth factor receptor 2-negative (HER2(-)) early breast cancers from 143 patients treated with the aromatase inhibitor letrozole for 10 to 21 days before surgery. Twenty-one percent of tumors remained highly proliferative, suggesting that these tumors harbor alterations associated with intrinsic endocrine therapy resistance...
August 9, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28793339/modeling-mirna-mrna-interactions-that-cause-phenotypic-abnormality-in-breast-cancer-patients
#6
Sanghoon Lee, Xia Jiang
BACKGROUND: The dysregulation of microRNAs (miRNAs) alters expression level of pro-oncogenic or tumor suppressive mRNAs in breast cancer, and in the long run, causes multiple biological abnormalities. Identification of such interactions of miRNA-mRNA requires integrative analysis of miRNA-mRNA expression profile data. However, current approaches have limitations to consider the regulatory relationship between miRNAs and mRNAs and to implicate the relationship with phenotypic abnormality and cancer pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28783897/gonadal-intersex-in-smallmouth-bass-micropterus-dolomieu-from-northern-indiana-with-correlations-to-molecular-biomarkers-and-anthropogenic-chemicals
#7
Ahmed Abdel-Moneim, Daragh Deegan, Jiejun Gao, Chloe De Perre, Jarrod S Doucette, Byron Jenkinson, Linda Lee, Maria S Sepúlveda
Over the past decade, studies have shown that exposure to endocrine disrupting chemicals (EDCs) can cause gonadal intersex in fish. Smallmouth bass (Micropterus dolomieu) males appear to be highly susceptible to developing testicular oocytes (TO), the most prevalent form of gonadal intersex, as observed in various areas across the U.S. In this study, prevalence and severity of TO was quantified for smallmouth bass sampled from the St. Joseph River in northern Indiana, intersex biomarkers were developed, and association between TO prevalence and organic contaminants were explored...
July 31, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28782810/establishment-of-estrogen-receptor-1-esr1-knockout-medaka-esr1-is-dispensable-for-sexual-development-and-reproduction-in-medaka-oryzias-latipes
#8
Saki Tohyama, Yukiko Ogino, Anke Lange, Taijun Myosho, Tohru Kobayashi, Yu Hirano, Gen Yamada, Tomomi Sato, Norihisa Tatarazako, Charles R Tyler, Taisen Iguchi, Shinichi Miyagawa
Estrogens play fundamental roles in regulating reproductive activities and they act through estrogen receptor (ESR) in all vertebrates. Most vertebrates have two ESR subtypes (ESR1 and ESR2), whereas teleost fish have at least three (Esr1, Esr2a and Esr2b). Intricate functionalization has been suggested among the Esr subtypes, but to date, distinct roles of Esr have been characterized in only a limited number of species. Study of loss-of-function in animal models is a powerful tool for application to understanding vertebrate reproductive biology...
August 7, 2017: Development, Growth & Differentiation
https://www.readbyqxmd.com/read/28778025/comparison-of-esr1-mutations-in-tumor-tissue-and-matched-plasma-samples-from-metastatic-breast-cancer-patients
#9
Takashi Takeshita, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Mai Tomiguchi, Aiko Sueta, Keiichi Murakami, Yoko Omoto, Hirotaka Iwase
BACKGROUND: ESR1 mutation in circulating cell-free DNA (cfDNA) is emerging as a noninvasive biomarker of acquired resistance to endocrine therapy, but there is a paucity of data comparing the status of ESR1 gene in cfDNA with that in its corresponding tumor tissue. The objective of this study is to validate the degree of concordance of ESR1 mutations between plasma and tumor tissue. METHODS: ESR1 ligand-binding domain mutations Y537S, Y537N, Y537C, and D538G were analyzed using droplet digital PCR in 35 patients with metastatic breast cancer (MBC) (35 tumor tissue samples and 67 plasma samples)...
July 31, 2017: Translational Oncology
https://www.readbyqxmd.com/read/28775043/oestrogen-inhibition-reverses-pulmonary-arterial-hypertension-and-associated-metabolic-defects
#10
Xinping Chen, Eric D Austin, Megha Talati, Joshua P Fessel, Eric H Farber-Eger, Evan L Brittain, Anna R Hemnes, James E Loyd, James West
Increased oestrogen is a strong epidemiological risk factor for development of pulmonary arterial hypertension (PAH) in patients, associated with metabolic defects. In addition, oestrogens drive penetrance in mice carrying mutations in bone morphogenetic protein receptor type II (BMPR2), the cause of most heritable PAH. The goal of the present study was to determine whether inhibition of oestrogens was effective in the treatment of PAH in these mice.The oestrogen inhibitors fulvestrant and anastrozole were used in a prevention and treatment paradigm in BMPR2 mutant mice, and tamoxifen was used for treatment...
August 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28765074/estrogenic-effects-associated-with-bisphenol-a-exposure-in-male-zebrafish-danio-rerio-is-associated-with-changes-of-endogenous-17%C3%AE-estradiol-and-gene-specific-dna-methylation-levels
#11
Fei Zhao, Penghao Wei, Jun Wang, Miao Yu, Xiaona Zhang, Hua Tian, Wei Wang, Shaoguo Ru
The binding affinity of bisphenol A (BPA) to estrogen receptors (ERs) is much lower than that of 17β-estradiol (E2), and whether there are other molecular mechanisms responsible for the estrogenic action of BPA in vivo currently remains unknown. The objective of this study was to explore the potential association between the estrogenic effect induced by bisphenol A in vivo and changes of endogenous E2 and gene specific DNA methylation levels. After a waterborne exposure of male zebrafish to 500, 1000, or 1500μg/L of BPA for 21d, vitellogenin (VTG) concentration in whole body homogenate, plasma E2 and testosterone levels, hepatic ERs mRNA expressions, gonadal cyp19a1a and cyp17a1 mRNA expressions, and methylation levels of hepatic esr1 and gonadal cyp19a1a's promoters were determined...
July 29, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28761973/enhanced-identification-of-potential-pleiotropic-genetic-variants-for-bone-mineral-density-and-breast-cancer
#12
Cheng Peng, Hui-Ling Lou, Feng Liu, Jie Shen, Xu Lin, Chun-Ping Zeng, Ji-Rong Long, Kuan-Jui Su, Lan Zhang, Jonathan Greenbaum, Wei-Feng Deng, Yu-Mei Li, Hong-Wen Deng
Epidemiological and clinical evidences have shown that bone mineral density (BMD) has a close relationship with breast cancer (BC). They might potentially have a shared genetic basis. By incorporating information about these pleiotropic effects, we may be able to explore more of the traits' total heritability. We applied a recently developed conditional false discovery rate (cFDR) method to the summary statistics from two independent GWASs to identify the potential pleiotropic genetic variants for BMD and BC...
July 31, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28755943/feeding-an-enhanced-diet-to-holstein-heifers-during-the-preweaning-period-alters-steroid-receptor-expression-and-increases-cellular-proliferation
#13
A J Geiger, C L M Parsons, R M Akers
Preweaning diet and estradiol treatment alters mammary development. Our objectives were to study the effects of diet and estradiol on proliferation of mammary epithelial cells and expression of estrogen receptor α (ESR1) and progesterone receptors (PGR) in these cells. Thirty-six Holstein heifer calves were raised on (1) a control milk replacer fed at 0.44 kg of powder/head per day, dry matter (DM) basis (restricted, R; 20.9% crude protein, 19.8% fat, DM basis), or (2) an enhanced milk replacer fed at 1.08 kg of powder/head per day, DM basis (Enhanced, EH; 28...
July 26, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28755420/cytobrush-a-tool-for-sequential-evaluation-of-gene-expression-in-bovine-endometrium
#14
B Cardoso, M L Oliveira, G Pugliesi, Eos Batista, M Binelli
Aims were to (i) compare specific transcript abundance between endometrial samples collected by transcervical biopsy and cytobrush and (ii) measure the abundance of endometrial transcripts involved in PGF2α synthesis in samples collected by cytobrush. In Experiment 1, endometrial samples were taken transcervically by cytobrush and biopsy 10 days after ovulation. Compared to biopsy samples, abundance of transcripts for MSTN, AKR1C4 and PGR was similar, VIM, FLT1 and PTGES was lower (p < .05) and KRT18 and CD3D was greater in cytobrush samples (p < ...
July 28, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28753494/ovarian-steroids-oxytocin-and-tumor-necrosis-factor-modulate-equine-oviduct-function
#15
P Pinto-Bravo, A Galvão, M R Rebordão, A Amaral, D Ramilo, E Silva, A Szóstek-Mioduchowska, G Alexandre-Pires, R Roberto da Costa, D J Skarzynski, G Ferreira-Dias
The oviduct plays important roles in the early reproductive process. The aim of this study was to evaluate gene transcription and protein expression of progesterone receptor (PGR), estrogen receptors 1 (ESR1) and 2 (ESR2); oxytocin receptor (OXTR); prostaglandin F2α synthase (AKR1C3), and prostaglandin E2 synthase (Ptges) in mare oviduct in different estrous cycle stages. Estradiol (E2), progesterone (P4), oxytocin (OXT), and tumor necrosis factor α (TNF) effect on in vitro PGE2 and prostaglandin F2α (PGF2α) secretion by equine oviduct explants or by oviductal epithelial cells (OECs) were also assessed...
June 24, 2017: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/28743985/loss-of-er%C3%AE-partially-reverses-the-effects-of-maternal-high-fat-diet-on-energy-homeostasis-in-female-mice
#16
Troy A Roepke, Ali Yasrebi, Alejandra Villalobos, Elizabeth A Krumm, Jennifer A Yang, Kyle J Mamounis
Maternal high-fat diet (HFD) alters hypothalamic developmental programming and disrupts offspring energy homeostasis in rodents. 17β-estradiol (E2) also influences hypothalamic programming through estrogen receptor (ER) α. Therefore, we hypothesized that females lacking ERα would be more susceptible to maternal HFD. To address this question, heterozygous ERα knockout (WT/KO) dams were fed a control breeder chow diet (25% fat) or a semi-purified HFD (45% fat) 4 weeks prior to mating with WT/KO males or heterozygous males with an ERα DNA-binding domain mutation knocked in (WT/KI) to produce WT, ERα KO, or ERα KIKO females lacking ERE-dependent ERα signaling...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28734725/estrogen-receptor-alpha-is-required-in-gabaergic-but-not-glutamatergic-neurons-to-masculinize-behavior
#17
Melody V Wu, Jessica Tollkuhn
Masculinization of the altricial rodent brain is driven by estrogen signaling during a perinatal critical period. Genetic deletion of estrogen receptor alpha (Esr1/ERα) results in altered hypothalamic-pituitary-gonadal (HPG) axis signaling and a dramatic reduction of male sexual and territorial behaviors. However, the role of ERα in masculinizing distinct classes of neurons remains unexplored. We deleted ERα in excitatory or inhibitory neurons using either a Vglut2 or Vgat driver and assessed male behaviors...
July 20, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28733229/estrogen-signaling-through-both-membrane-and-nuclear-receptors-in-the-liver-of-fathead-minnow
#18
Natàlia Garcia-Reyero, B Sumith Jayasinghe, Kevin J Kroll, Tara Sabo-Attwood, Nancy D Denslow
Estradiol is a potent sex steroid hormone that controls reproduction and other cellular pathways in fish. It is known to regulate important proteins such as vitellogenin, the egg yolk precursor protein, and zona radiata proteins that form the eggshell for fish eggs. These proteins are made in the liver and transported out into the blood from where they are taken up into the ovary during oogenesis. Estradiol can exert its influence directly through soluble nuclear receptors (there are three in fish) or indirectly through membrane receptors and a phosphorylation cascade...
July 18, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28729437/estradiol-induced-regulation-of-glut4-in-3t3-l1-cells-involvement-of-esr1-and-akt-activation
#19
Raquel Campello, Luciana Fátima, João Barreto-Andrade, Thais Fg Lucas, Rosana Cristina Tieko Mori, Catarina Segreti Porto, Ubiratan Fabres Machado
Impaired insulin-stimulated glucose uptake involves reduced expression of the GLUT4 (solute carrier family 2 facilitated glucose transporter member 4, SLC2A4 gene). 17β-estradiol (E2) modulates SLC2A4/GLUT4 expression, but the involved mechanisms are unclear. Although E2 exerts its biological effects by binding to estrogen receptors 1/2 (ESR1/2), which are nuclear transcriptional factors; extranuclear effects have also been proposed. We hypothesize that E2 regulates GLUT4 through a mechanism related to extranuclear ESR1...
July 20, 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/28729136/heparinase-enables-reliable-quantification-of-circulating-tumor-dna-from-heparinized-plasma-samples-by-droplet-digital-pcr
#20
David Sefrioui, Ludivine Beaussire, Florian Clatot, Julien Delacour, Anne Perdrix, Thierry Frebourg, Pierre Michel, Frédéric Di Fiore, Nasrin Sarafan-Vasseur
BACKGROUND: Heparin is often used as a blood anticoagulant for tumor marker analysis but results in the inhibition of PCR detection of circulating tumor DNA (ctDNA), which has been deemed a potential "liquid biopsy". We aimed to evaluate the impact of heparinase addition on heparinized plasma samples to allow ctDNA analysis. METHODS: Plasma samples were collected in heparinized (n=194) and EDTA (n=8) tubes from hormone receptor-positive metastatic breast cancer (HR+MBC) (n=144) and pancreatic adenocarcinoma (PA) patients (n=50)...
July 17, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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