Allelic Variants Between Mouse Substrains BALB/Cj and BALB/Cbyj
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Snps) Distant from Xenobiotic Response Elements Can Modulate Aryl Hydrocarbon Receptor Function: SNP-Dependent CYP1A1 Induction S
Supplemental material to this article can be found at: http://dmd.aspetjournals.org/content/suppl/2018/07/06/dmd.118.082164.DC1 1521-009X/46/9/1372–1381$35.00 https://doi.org/10.1124/dmd.118.082164 DRUG METABOLISM AND DISPOSITION Drug Metab Dispos 46:1372–1381, September 2018 Copyright ª 2018 by The American Society for Pharmacology and Experimental Therapeutics Single Nucleotide Polymorphisms (SNPs) Distant from Xenobiotic Response Elements Can Modulate Aryl Hydrocarbon Receptor Function: SNP-Dependent CYP1A1 Induction s Duan Liu, Sisi Qin, Balmiki Ray,1 Krishna R. Kalari, Liewei Wang, and Richard M. Weinshilboum Division of Clinical Pharmacology, Department of Molecular Pharmacology and Experimental Therapeutics (D.L., S.Q., B.R., L.W., R.M.W.) and Division of Biomedical Statistics and Informatics, Department of Health Sciences Research (K.R.K.), Mayo Clinic, Rochester, Minnesota Received April 22, 2018; accepted June 28, 2018 ABSTRACT Downloaded from CYP1A1 expression can be upregulated by the ligand-activated aryl fashion. LCLs with the AA genotype displayed significantly higher hydrocarbon receptor (AHR). Based on prior observations with AHR-XRE binding and CYP1A1 mRNA expression after 3MC estrogen receptors and estrogen response elements, we tested treatment than did those with the GG genotype. Electrophoretic the hypothesis that single-nucleotide polymorphisms (SNPs) map- mobility shift assay (EMSA) showed that oligonucleotides with the ping hundreds of base pairs (bp) from xenobiotic response elements AA genotype displayed higher LCL nuclear extract binding after (XREs) might influence AHR binding and subsequent gene expres- 3MC treatment than did those with the GG genotype, and mass dmd.aspetjournals.org sion. -
Co-Occupancy by Multiple Cardiac Transcription Factors Identifies
Co-occupancy by multiple cardiac transcription factors identifies transcriptional enhancers active in heart Aibin Hea,b,1, Sek Won Konga,b,c,1, Qing Maa,b, and William T. Pua,b,2 aDepartment of Cardiology and cChildren’s Hospital Informatics Program, Children’s Hospital Boston, Boston, MA 02115; and bHarvard Stem Cell Institute, Harvard University, Cambridge, MA 02138 Edited by Eric N. Olson, University of Texas Southwestern, Dallas, TX, and approved February 23, 2011 (received for review November 12, 2010) Identification of genomic regions that control tissue-specific gene study of a handful of model genes (e.g., refs. 7–10), it has not been expression is currently problematic. ChIP and high-throughput se- evaluated using unbiased, genome-wide approaches. quencing (ChIP-seq) of enhancer-associated proteins such as p300 In this study, we used a modified ChIP-seq approach to define identifies some but not all enhancers active in a tissue. Here we genome wide the binding sites of these cardiac TFs (1). We show that co-occupancy of a chromatin region by multiple tran- provide unbiased support for collaborative TF interactions in scription factors (TFs) identifies a distinct set of enhancers. GATA- driving cardiac gene expression and use this principle to show that chromatin co-occupancy by multiple TFs identifies enhancers binding protein 4 (GATA4), NK2 transcription factor-related, lo- with cardiac activity in vivo. The majority of these multiple TF- cus 5 (NKX2-5), T-box 5 (TBX5), serum response factor (SRF), and “ binding loci (MTL) enhancers were distinct from p300-bound myocyte-enhancer factor 2A (MEF2A), here referred to as cardiac enhancers in location and functional properties. -
Comparison and Analysis on the Existing Single-Herbal Strategies Against Viral Myocarditis
Hindawi Genetics Research Volume 2021, Article ID 9952620, 12 pages https://doi.org/10.1155/2021/9952620 Research Article Comparison and Analysis on the Existing Single-Herbal Strategies against Viral Myocarditis Yu Cao ,1 Yang Liu,2 Tian Zhang,3 Jing Pan,4 Wei Lei,1 and Boli Zhang1 1Institute of Traditional Chinese Medicine, Tianjin University of Traditional Chinese Medicine, No. 10 Poyanghu Road, Tianjin 301617, China 2School of Chemical Engineering and Technology, Tianjin University, No. 135 Yaguan Road, Tianjin 300350, China 3State Key Laboratory of Dao-di Herbs, National Resource Center for Chinese Materia Medica, China Academy of Chinese Medical Sciences, No. 16 Neinan Street, Beijing 100700, China 4Department of Reproductive Medicine, Inner Mongolia Maternal and Child Health Care Hospital, No. 18 North Second Ring Express Road, Hohhot 010020, China Correspondence should be addressed to Yu Cao; [email protected] Received 27 March 2021; Accepted 31 July 2021; Published 9 August 2021 Academic Editor: Hafiz Ishfaq Ahmad Copyright © 2021 Yu Cao et al. ,is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Purpose. Herbal medicine is one of crucial symbols of Chinese national medicine. Investigation on molecular responses of different herbal strategies against viral myocarditis is immeasurably conducive to targeting drug development in the current international absence of miracle treatment. Methods. Literature retrieval platforms were applied in the collection of existing empirical evidences for viral myocarditis-related single-herbal strategies. SwissTargetPrediction, Metascape, and Discovery Studio coordinating with multidatabases investigated underlying target genes, interactive proteins, and docking molecules in turn. -
TNNI3K Is a Novel Mediator of Myofilament Function and Phosphorylates Cardiac Troponin I
Brazilian Journal of Medical and Biological Research (2013) 46: 128-137, http://dx.doi.org/10.1590/1414-431X20122515 ISSN 1414-431X TNNI3K is a novel mediator of myofilament function and phosphorylates cardiac troponin I Hui Wang*, Lin Wang*, Li Song, Yan-Wan Zhang, Jue Ye, Rui-Xia Xu, Na Shi and Xian-Min Meng Core Laboratory, Fu Wai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China Abstract The phosphorylation of cardiac troponin I (cTnI) plays an important role in the contractile dysfunction associated with heart failure. Human cardiac troponin I-interacting kinase (TNNI3K) is a novel cardiac-specific functional kinase that can bind to cTnI in a yeast two-hybrid screen. The purpose of this study was to investigate whether TNNI3K can phosphorylate cTnI at specific sites and to examine whether the phosphorylation of cTnI caused by TNNI3K can regulate cardiac myofilament contractile function. Co-immunoprecipitation was performed to confirm that TNNI3K could interact with cTnI. Kinase assays further indicated that TNNI3K did not phosphorylate cTnI at Ser23/24 and Ser44, but directly phosphorylated Ser43 and Thr143 in vitro. The results obtained for adult rat cardiomyocytes also indicated that enhanced phosphorylation of cTnI at Ser43 and Thr143 correlated with rTNNI3K (rat TNNI3K) overexpression, and phosphorylation was reduced when rTNNI3K was knocked down. To determine the contractile function modulated by TNNI3K-mediated phosphorylation of cTnI, cardiomyocyte contraction was studied in adult rat ventricular myocytes. The contraction of cardiomyocytes increased with rTNNI3K overexpression and decreased with rTNNI3K knockdown. We conclude that TNNI3K may be a novel mediator of cTnI phosphorylation and contribute to the regulation of cardiac myofilament contraction function. -
Chromosome Abnormalities in Two Patients with Features of Autosomal Dominant Robinow Syndrome
ß 2007 Wiley-Liss, Inc. American Journal of Medical Genetics Part A 143A:1790–1795 (2007) Research Letter Chromosome Abnormalities in Two Patients With Features of Autosomal Dominant Robinow Syndrome Juliana F. Mazzeu,1 Ana Cristina Krepischi-Santos,1 Carla Rosenberg,1 Karoly Szuhai,2 Jeroen Knijnenburg,2 Janneke M.M. Weiss,3 Irina Kerkis,1 Zan Mustacchi,4 Guilherme Colin,5 Roˆmulo Mombach,6 Rita de Ca´ssia M. Pavanello,1 Paulo A. Otto,1 and Angela M. Vianna-Morgante1* 1Centro de Estudos do Genoma Humano, Departamento de Gene´tica e Biologia Evolutiva, Instituto de Biocieˆncias, Universidade de Sa˜o Paulo, Sa˜o Paulo, Brazil 2Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands 3Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 4Hospital Infantil Darcy Vargas, Sa˜o Paulo, Brazil 5Departamento de Gene´tica Me´dica, Univille, Joinville, Brazil 6Centrinho Prefeito Luiz Gomes, Secretaria Municipal de Sau´de, Joinville, Brazil Received 13 April 2006; Accepted 13 December 2006 How to cite this article: Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JMM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello RM, Otto PA, Vianna-Morgante AM. 2007. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. Am J Med Genet Part A 143A:1790–1795. To the Editor: Patient 1 Robinow syndrome [OMIM 180700] is characteriz- At age 3 4/12 years the girl was diagnosed as ed by fetal facies, mesomelic dwarfism, and hypo- affected by DRS (Fig. 1A). Detailed clinical examina- plastic genitalia. -
2021 Undergraduate Research Abstract Booklet
1 | P a g e Table of Contents FOREWORD ................................................................................................................................................... 4 Abidemi Awojuyigbe ..................................................................................................................................... 5 Aijalon Shantavia........................................................................................................................................... 6 Aminata Diagne ............................................................................................................................................. 8 The Exploration of BRAF Gene .................................................................................................................... 10 Araceli Estrada Martinez ............................................................................................................................. 10 Ashlee Young ............................................................................................................................................... 11 Ayanna D. Montegut ................................................................................................................................... 12 Brandon Bernäl ........................................................................................................................................... 13 Caleb Riggins .............................................................................................................................................. -
430.Full.Pdf
430 LETTER TO JMG J Med Genet: first published as 10.1136/jmg.39.6.430 on 1 June 2002. Downloaded from A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 F E Abidi, E Holinski-Feder, O Rittinger, F Kooy, H A Lubs, R E Stevenson, C E Schwartz ............................................................................................................................. J Med Genet 2002;39:430–433 linked mental retardation (XLMR) represents around 5% detection of any alteration at the splice junction. Since the of all MR, with a prevalence of 1 in 600 males.12Fifteen PCR products for exons 2 and 5 were greater than 310 bp, they to twenty percent of the total XLMR is the result of the were digested with HaeIII and PvuII respectively (table 1). X 3 fragile X syndrome. Non-fragile X mental retardation was Amplification was done in a PTC-200 thermocycler (MJ subdivided into syndromal and non-syndromal conditions by Research). Following PCR, 10 µl of the IPS loading dye (95% Neri et al4 in 1991. The syndromal XLMR entities (MRXS) are formamide, 10 mmol/l NaOH, 0.25% bromophenol blue, 0.25% those in which there is a specific pattern of physical, xylene cyanol) was added. The samples were denatured at neurological, or metabolic abnormalities associated with the 96°C for three minutes and loaded on a 0.5 × MDE gel (FMC) presence of mental retardation.5 Non-syndromic XLMR prepared in 0.6 × TBE. The gel was run at 8 W for 15-20 hours (MRX) are conditions in which a gene mutation causes men- at room temperature. -
Gene Ontology Functional Annotations and Pleiotropy
Network based analysis of genetic disease associations Sarah Gilman Submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy under the Executive Committee of the Graduate School of Arts and Sciences COLUMBIA UNIVERSITY 2014 © 2013 Sarah Gilman All Rights Reserved ABSTRACT Network based analysis of genetic disease associations Sarah Gilman Despite extensive efforts and many promising early findings, genome-wide association studies have explained only a small fraction of the genetic factors contributing to common human diseases. There are many theories about where this “missing heritability” might lie, but increasingly the prevailing view is that common variants, the target of GWAS, are not solely responsible for susceptibility to common diseases and a substantial portion of human disease risk will be found among rare variants. Relatively new, such variants have not been subject to purifying selection, and therefore may be particularly pertinent for neuropsychiatric disorders and other diseases with greatly reduced fecundity. Recently, several researchers have made great progress towards uncovering the genetics behind autism and schizophrenia. By sequencing families, they have found hundreds of de novo variants occurring only in affected individuals, both large structural copy number variants and single nucleotide variants. Despite studying large cohorts there has been little recurrence among the genes implicated suggesting that many hundreds of genes may underlie these complex phenotypes. The question -
Anti-GDI1 (Aa 399-447) Polyclonal Antibody (DPABH-15243) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use
Anti-GDI1 (aa 399-447) polyclonal antibody (DPABH-15243) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Antigen Description Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Immunogen A region within a synthetic peptide: FCSCSYDATT HFETTCNDIK DIYKRMAGTA FDFENMKRKQ NDVFGEAEQ, corresponding to C terminal amino acids 399-447 of Human GDI1 Isotype IgG Source/Host Rabbit Species Reactivity Human Purification IgG fraction Conjugate Unconjugated Applications WB Format Liquid Size 100 μg Buffer Constituents: 2% Sucrose, PBS Preservative None Storage Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. GENE INFORMATION Gene Name GDI1 GDP dissociation inhibitor 1 [ Homo sapiens ] Official Symbol GDI1 Synonyms GDI1; GDP dissociation inhibitor 1; GDIL, MRX41, MRX48; rab GDP dissociation inhibitor alpha; FLJ41411; mental retardation; X linked 41; X linked 48; OPHN2; rab GDP dissociation inhibitor; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved alpha; RABGDIA; XAP 4; GDI-1; protein XAP-4; rab GDI alpha; oligophrenin-2; mental retardation, X-linked 48; rab GDP-dissociation inhibitor, alpha; guanosine diphosphate dissociation inhibitor 1; 1A; GDIL; MRX41; MRX48; XAP-4; RABGD1A; Entrez Gene ID 2664 Protein Refseq NP_001484 UniProt ID P31150 Chromosome Location Xq28 Pathway Rho GTPase cycle; Signal Transduction; Signaling by Rho GTPases; Signaling mediated by p38-alpha and p38-beta; Function GDP-dissociation inhibitor activity; GTPase activator activity; Rab GDP-dissociation inhibitor activity; protein binding; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 2 © Creative Diagnostics All Rights Reserved. -
Multidimensional Informatic Deconvolution Defines Gender
Mechanisms of Ageing and Development 184 (2019) 111150 Contents lists available at ScienceDirect Mechanisms of Ageing and Development journal homepage: www.elsevier.com/locate/mechagedev Multidimensional informatic deconvolution defines gender-specific roles of hypothalamic GIT2 in aging trajectories T Jaana van Gastela, Huan Caib, Wei-Na Congb, Wayne Chadwickc, Caitlin Daimonb, Hanne Leysena, Jhana O. Hendrickxa, Robin De Scheppera, Laura Vangenechtena, Jens Van Turnhouta, Jasper Verswyvela, Kevin G. Beckerd, Yongqing Zhangd, Elin Lehrmannd, William H. Wood IIId, Bronwen Martinb,e,**,1, Stuart Maudsleya,c,*,1 a Receptor Biology Lab, Department of Biomedical Sciences, University of Antwerp, 2610, Wilrijk, Belgium b Metabolism Unit, Laboratory of Clinical Investigation, National Institute on Aging, National Institutes of Health, Biomedical Research Center, 251 Bayview Boulevard, Baltimore, MD, 21224, United States c Receptor Pharmacology Unit, Laboratory of Neuroscience, National Institute on Aging, National Institutes of Health, Biomedical Research Center, 251 Bayview Boulevard, Baltimore, MD, 21224, United States d Gene Expression and Genomics Unit, Laboratory of Genetics and Genomics, National Institute on Aging, National Institutes of Health, Biomedical Research Center, 251 Bayview Boulevard, Baltimore, MD, 21224, United States e Faculty of Pharmacy, Biomedical and Veterinary Sciences, University of Antwerp, 2610, Wilrijk, Belgium ARTICLE INFO ABSTRACT Keywords: In most species, females live longer than males. An understanding of this female longevity advantage will likely GIT2 uncover novel anti-aging therapeutic targets. Here we investigated the transcriptomic responses in the hy- Longevity pothalamus – a key organ for somatic aging control – to the introduction of a simple aging-related molecular Aging perturbation, i.e. GIT2 heterozygosity. Our previous work has demonstrated that GIT2 acts as a network con- Female troller of aging. -
An Analysis of the Ramosa1 Pathway in Zea Mays Utilizing CRISPR/Cas9 Knockouts
Iowa State University Capstones, Theses and Graduate Theses and Dissertations Dissertations 2019 An analysis of the ramosa1 pathway in Zea mays utilizing CRISPR/Cas9 knockouts Ryan James Arndorfer Iowa State University Follow this and additional works at: https://lib.dr.iastate.edu/etd Part of the Agriculture Commons, Genetics Commons, and the Plant Sciences Commons Recommended Citation Arndorfer, Ryan James, "An analysis of the ramosa1 pathway in Zea mays utilizing CRISPR/Cas9 knockouts" (2019). Graduate Theses and Dissertations. 17391. https://lib.dr.iastate.edu/etd/17391 This Thesis is brought to you for free and open access by the Iowa State University Capstones, Theses and Dissertations at Iowa State University Digital Repository. It has been accepted for inclusion in Graduate Theses and Dissertations by an authorized administrator of Iowa State University Digital Repository. For more information, please contact [email protected]. An analysis of the ramosa1 pathway in Zea mays utilizing CRISPR/Cas9 knockouts by Ryan Arndorfer A thesis submitted to the graduate faculty in partial fulfillment of the requirements for the degree of MASTER OF SCIENCE Major: Genetics and Genomics Program of Study Committee: Erik Vollbrecht, Major Professor Shuizhang Fei Philip Becraft The student author, whose presentation of the scholarship herein was approved by the program of study committee, is solely responsible for the content of this thesis. The Graduate College will ensure this thesis is globally accessible and will not permit alterations after a degree is conferred. Iowa State University Ames, Iowa 2019 Copyright © Ryan Arndorfer, 2019. All rights reserved. ii DEDICATION Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. -
Datasheet: VPA00272 Product Details
Datasheet: VPA00272 Description: RABBIT ANTI GDI1 Specificity: GDI1 Format: Purified Product Type: PrecisionAb™ Polyclonal Isotype: Polyclonal IgG Quantity: 100 µl Product Details Applications This product has been reported to work in the following applications. This information is derived from testing within our laboratories, peer-reviewed publications or personal communications from the originators. Please refer to references indicated for further information. For general protocol recommendations, please visit www.bio-rad-antibodies.com/protocols. Yes No Not Determined Suggested Dilution Western Blotting 1/1000 PrecisionAb antibodies have been extensively validated for the western blot application. The antibody has been validated at the suggested dilution. Where this product has not been tested for use in a particular technique this does not necessarily exclude its use in such procedures. Further optimization may be required dependant on sample type. Target Species Human Product Form Purified IgG - liquid Preparation Rabbit polyclonal antibody purified by affinity chromatography Buffer Solution Phosphate buffered saline Preservative 0.09% Sodium Azide (NaN3) Stabilisers 1% Bovine Serum Albumin Immunogen KLH-conjugated synthetic peptide corresponding to aa 415-443 of human GDI1 External Database Links UniProt: P31150 Related reagents Entrez Gene: 2664 GDI1 Related reagents Synonyms GDIL, OPHN2, RABGDIA, XAP4 Specificity Rabbit anti Human GDI1 antibody recognizes GDI1, also known as guanosine diphosphate dissociation inhibitor 1, mental retardation, X-linked 48, oligophrenin-2, protein XAP-4, rab GDI alpha and rab GDP-dissociation inhibitor, alpha. Page 1 of 2 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles.