ABCG2 Contributes to the Development of Gout And
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MEPE Is a Novel Regulator of Growth Plate Cartilage Mineralization
Edinburgh Research Explorer MEPE is a novel regulator of growth plate cartilage mineralization Citation for published version: Staines, K, Mackenzie, NCW, Clarkin, CE, Zelenchuk, L, Rowe, PS, MacRae, VE & Farquharson, C 2012, 'MEPE is a novel regulator of growth plate cartilage mineralization', Bone, vol. 51, no. 3, pp. 418-430. https://doi.org/10.1016/j.bone.2012.06.022 Digital Object Identifier (DOI): 10.1016/j.bone.2012.06.022 Link: Link to publication record in Edinburgh Research Explorer Document Version: Publisher's PDF, also known as Version of record Published In: Bone Publisher Rights Statement: Available under Open Access General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide by the legal requirements associated with these rights. Take down policy The University of Edinburgh has made every reasonable effort to ensure that Edinburgh Research Explorer content complies with UK legislation. If you believe that the public display of this file breaches copyright please contact [email protected] providing details, and we will remove access to the work immediately and investigate your claim. Download date: 01. Oct. 2021 Bone 51 (2012) 418–430 Contents lists available at SciVerse ScienceDirect Bone journal homepage: www.elsevier.com/locate/bone Original Full Length Article MEPE is a novel regulator of growth plate cartilage mineralization K.A. Staines a,⁎, N.C.W. Mackenzie a, C.E. Clarkin b, L. Zelenchuk c, P.S. Rowe c, V.E. -
CD157 and CD200 at the Crossroads of Endothelial Remodeling and Immune Regulation
Editorial Commentary Page 1 of 7 CD157 and CD200 at the crossroads of endothelial remodeling and immune regulation Masuko Katoh1, Masaru Katoh2 1M & M PrecMed, Tokyo, Japan; 2Department of Omics Network, National Cancer Center, Tokyo, Japan Correspondence to: Masaru Katoh. Department of Omics Network, National Cancer Center, 5-1-1 Tsukiji, Chuo-ward, Tokyo 104-0045, Japan. Email: [email protected]. Comment on: Wakabayashi T, Naito H, Suehiro JI, et al. CD157 Marks Tissue-Resident Endothelial Stem Cells with Homeostatic and Regenerative Properties. Cell Stem Cell 2018;22:384-97.e6. Received: 11 March 2019; Accepted: 08 April 2019; Published: 19 April 2019. doi: 10.21037/sci.2019.04.01 View this article at: http://dx.doi.org/10.21037/sci.2019.04.01 The endothelial cells that coat the inner wall of blood cells formed more CD31 (PECAM1)-positive colonies than vessels are essential for the maintenance of the vascular CD200 single-positive or CD157/CD200 double-negative network, metabolic homeostasis and stem cell populations liver endothelial cells in vitro. The expression levels of Atf3, in tissue or tumor microenvironments (1-3). Angiogenesis Fosl2, Myc and Sox7 were significantly upregulated in the is defined as neovascular formation through the sprouting CD157/CD200 double-positive cells compared with the and proliferation of endothelial cells from preexisting CD200 single-positive or CD157/CD200 double-negative blood vessels. VEGF (VEGFA) and FGFs that transduce cells; however, the functions of these transcription factors signals through VEGFR2 and FGFRs, respectively, are in CD157/CD200 double-positive endothelial cells remain representative proangiogenic factors (4,5). -
(12) Patent Application Publication (10) Pub. No.: US 2010/0159477 A1 Hornbeck Et Al
US 20100159477A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2010/0159477 A1 Hornbeck et al. (43) Pub. Date: Jun. 24, 2010 (54) REAGENTS FOR THE DETECTION OF Publication Classification PROTEIN PHOSPHORYLATION IN (51) Int. Cl. SIGNALNG PATHWAYS GOIN 33/573 (2006.01) GOIN 33/53 (2006.01) (76) Inventors: Peter Hornbeck, Magnolia, MA C07K 6/00 (2006.01) C07K 7/06 (2006.01) (US); Valerie Goss, Seabrook, NH C07K 7/08 (2006.01) (US); Kimberly Lee, Seattle, WA C07K I4/00 (2006.01) (US); Ting-Lei Gu, Woburn, MA CI2N 5/071 (2010.01) (US); Albrecht Moritz, Salem, MA CI2N 5/16 (2006.01) (US) CI2N 5/18 (2006.01) (52) U.S. Cl. ........ 435/7.4; 435/7.1:530/387.1; 530/328; Correspondence Address: 530/327: 530/326; 530/325; 530/324; 435/326 Nancy Chiu Wilker, Ph.D. (57) ABSTRACT Chief Intellectual Property Counsel CELL SIGNALING TECHNOLOGY, INC., 3 The invention discloses novel phosphorylation sites identi Trask Lane fied in signal transduction proteins and pathways, and pro vides phosphorylation-site specific antibodies and heavy-iso Danvers, MA 01923 (US) tope labeled peptides (AQUA peptides) for the selective detection and quantification of these phosphorylated sites/ (21) Appl. No.: 12/309,311 proteins, as well as methods of using the reagents for Such purpose. Among the phosphorylation sites identified are sites occurring in the following protein types: adaptor/scaffold (22) PCT Filed: Jul. 13, 2007 proteins, adhesion/extracellular matrix protein, apoptosis proteins, calcium binding proteins, cell cycle regulation pro (86). PCT No.: PCT/US07f73537 teins, chaperone proteins, chromatin, DNA binding/repair/ replication proteins, cytoskeletal proteins, endoplasmic S371 (c)(1), reticulum or golgi proteins, enzyme proteins, G/regulator (2), (4) Date: Feb. -
Genome-Wide Screen of Otosclerosis in Population Biobanks
medRxiv preprint doi: https://doi.org/10.1101/2020.11.15.20227868; this version posted November 16, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license . 1 Genome-wide Screen of Otosclerosis in 2 Population Biobanks: 18 Loci and Shared 3 Heritability with Skeletal Structure 4 Joel T. Rämö1, Tuomo Kiiskinen1, Juha Karjalainen1,2,3,4, Kristi Krebs5, Mitja Kurki1,2,3,4, Aki S. 5 Havulinna6, Eija Hämäläinen1, Paavo Häppölä1, Heidi Hautakangas1, FinnGen, Konrad J. 6 Karczewski1,2,3,4, Masahiro Kanai1,2,3,4, Reedik Mägi5, Priit Palta1,5, Tõnu Esko5, Andres Metspalu5, 7 Matti Pirinen1,7,8, Samuli Ripatti1,2,7, Lili Milani5, Antti Mäkitie9, Mark J. Daly1,2,3,4,10, and Aarno 8 Palotie1,2,3,4 9 1. Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of 10 Helsinki, Helsinki, Finland 11 2. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, 12 Massachusetts, USA 13 3. Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, 14 USA 15 4. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA 16 5. Estonian Genome Center, University of Tartu, Tartu, Estonia, Institute of Molecular and Cell Biology, 17 University of Tartu, Tartu, Estonia 18 6. Finnish Institute for Health and Welfare, Helsinki, Finland 19 7. Department of Public Health, Clinicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland 20 8. -
Integrating Single-Step GWAS and Bipartite Networks Reconstruction Provides Novel Insights Into Yearling Weight and Carcass Traits in Hanwoo Beef Cattle
animals Article Integrating Single-Step GWAS and Bipartite Networks Reconstruction Provides Novel Insights into Yearling Weight and Carcass Traits in Hanwoo Beef Cattle Masoumeh Naserkheil 1 , Abolfazl Bahrami 1 , Deukhwan Lee 2,* and Hossein Mehrban 3 1 Department of Animal Science, University College of Agriculture and Natural Resources, University of Tehran, Karaj 77871-31587, Iran; [email protected] (M.N.); [email protected] (A.B.) 2 Department of Animal Life and Environment Sciences, Hankyong National University, Jungang-ro 327, Anseong-si, Gyeonggi-do 17579, Korea 3 Department of Animal Science, Shahrekord University, Shahrekord 88186-34141, Iran; [email protected] * Correspondence: [email protected]; Tel.: +82-31-670-5091 Received: 25 August 2020; Accepted: 6 October 2020; Published: 9 October 2020 Simple Summary: Hanwoo is an indigenous cattle breed in Korea and popular for meat production owing to its rapid growth and high-quality meat. Its yearling weight and carcass traits (backfat thickness, carcass weight, eye muscle area, and marbling score) are economically important for the selection of young and proven bulls. In recent decades, the advent of high throughput genotyping technologies has made it possible to perform genome-wide association studies (GWAS) for the detection of genomic regions associated with traits of economic interest in different species. In this study, we conducted a weighted single-step genome-wide association study which combines all genotypes, phenotypes and pedigree data in one step (ssGBLUP). It allows for the use of all SNPs simultaneously along with all phenotypes from genotyped and ungenotyped animals. Our results revealed 33 relevant genomic regions related to the traits of interest. -
Expression of SLC2A9 Isoforms in the Kidney and Their Localization in Polarized Epithelial Cells
Expression of SLC2A9 Isoforms in the Kidney and Their Localization in Polarized Epithelial Cells Toru Kimura1, Michi Takahashi1, Kunimasa Yan2, Hiroyuki Sakurai1* 1 Department of Pharmacology and Toxicology, Kyorin University School of Medicine, Mitaka, Tokyo, Japan, 2 Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Tokyo, Japan Abstract Background: Many genome-wide association studies pointed out that SLC2A9 gene, which encodes a voltage-driven urate transporter, SLC2A9/GLUT9 (a.k.a. URATv1), as one of the most influential genes for serum urate levels. SLC2A9 is reported to encode two splice variants: SLC2A9-S (512 amino acids) and SLC2A9-L (540 amino acids), only difference being at their N- termini. We investigated isoform-specific localization of SLC2A9 in the human kidney and role of N-terminal amino acids in differential sorting in vitro. Methodology/Principal Findings: Isoform specific antibodies against SLC2A9 were developed and human kidney sections were stained. SLC2A9-S was expressed in the apical side of the collecting duct while SLC2A9-L was expressed in the basolateral side of the proximal tubule. GFP fused SLC2A9s were expressed in MDCK cells and intracellular localization was observed. SLC2A9-S was expressed at both apical and basolateral membranes, whereas SLC2A9-L was expressed only at the basolateral membrane. Although SLC2A9-L has a putative di-leucine motif at 33th and 34th leucine, deletion of the motif or replacement of leucine did not affect its subcellular localization. When up to 16 amino acids were removed from the N- terminal of SLC2A9-S or when up to 25 amino acids were removed from the N-terminal of SLC2A9-L, there was no change in their sorting. -
Polymorphisms of the Multidrug Pump ABCG2: a Systematic Review of Their Effect on Protein Expression, Function, and Drug Pharmacokinetics
1521-009X/46/12/1886–1899$35.00 https://doi.org/10.1124/dmd.118.083030 DRUG METABOLISM AND DISPOSITION Drug Metab Dispos 46:1886–1899, December 2018 Copyright ª 2018 by The American Society for Pharmacology and Experimental Therapeutics Minireview Polymorphisms of the Multidrug Pump ABCG2: A Systematic Review of Their Effect on Protein Expression, Function, and Drug Pharmacokinetics Niall Heyes, Parth Kapoor, and Ian D. Kerr School of Life Sciences, Queen’s Medical Centre, University of Nottingham, Nottingham, United Kingdom Received June 12, 2018; accepted September 20, 2018 Downloaded from ABSTRACT The widespread expression and polyspecificity of the multidrug to improve outcomes in cancer patients treated with tyrosine ABCG2 efflux transporter make it an important determinant of the kinase inhibitors, but the reasons for this are yet to be estab- pharmacokinetics of a variety of substrate drugs. Null ABCG2 lished, and this residue’s role in the mechanism of the protein is expression has been linked to the Junior blood group. Polymor- unexplored by current biochemical and structural approaches. phisms affecting the expression or function of ABCG2 may have Research into the less-common polymorphisms is confined to dmd.aspetjournals.org clinically important roles in drug disposition and efficacy. The in vitro studies, with several polymorphisms shown to decrease most well-studied single nucleotide polymorphism (SNP), Q141K resistance to anticancer agents such as SN-38 and mitoxantrone. (421C>A), is shown to decrease ABCG2 expression and activity, In this review, we present a systematic analysis of the effects of resulting in increased total drug exposure and decreased re- ABCG2 polymorphisms on ABCG2 function and drug pharmaco- sistance to various substrates. -
Gene Expression Profiling of Corpus Luteum Reveals the Importance Of
bioRxiv preprint doi: https://doi.org/10.1101/673558; this version posted February 27, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. 1 Gene expression profiling of corpus luteum reveals the 2 importance of immune system during early pregnancy in 3 domestic sheep. 4 Kisun Pokharel1, Jaana Peippo2 Melak Weldenegodguad1, Mervi Honkatukia2, Meng-Hua Li3*, Juha 5 Kantanen1* 6 1 Natural Resources Institute Finland (Luke), Jokioinen, Finland 7 2 Nordgen – The Nordic Genetic Resources Center, Ås, Norway 8 3 College of Animal Science and Technology, China Agriculture University, Beijing, China 9 * Correspondence: MHL, [email protected]; JK, [email protected] 10 Abstract: The majority of pregnancy loss in ruminants occurs during the preimplantation stage, which is thus 11 the most critical period determining reproductive success. While ovulation rate is the major determinant of 12 litter size in sheep, interactions among the conceptus, corpus luteum and endometrium are essential for 13 pregnancy success. Here, we performed a comparative transcriptome study by sequencing total mRNA from 14 corpus luteum (CL) collected during the preimplantation stage of pregnancy in Finnsheep, Texel and F1 15 crosses, and mapping the RNA-Seq reads to the latest Rambouillet reference genome. A total of 21,287 genes 16 were expressed in our dataset. Highly expressed autosomal genes in the CL were associated with biological 17 processes such as progesterone formation (STAR, CYP11A1, and HSD3B1) and embryo implantation (eg. -
2.1 Drosophila Melanogaster
Overend, Gayle (2010) Drosophila as a model for the Anopheles Malpighian tubule. PhD thesis, University of Glasgow. http://theses.gla.ac.uk/1604/ Copyright and moral rights for this thesis are retained by the author A copy can be downloaded for personal non-commercial research or study, without prior permission or charge This thesis cannot be reproduced or quoted extensively from without first obtaining permission in writing from the Author The content must not be changed in any way or sold commercially in any format or medium without the formal permission of the Author When referring to this work, full bibliographic details including the author, title, awarding institution and date of the thesis must be given Glasgow Theses Service http://theses.gla.ac.uk/ [email protected] Drosophila as a model for the Anopheles Malpighian tubule A thesis submitted for the degree of Doctor of Philosophy at the University of Glasgow Gayle Overend Integrative and Systems Biology Faculty of Biomedical and Life Sciences University of Glasgow Glasgow G11 6NU UK August 2009 2 The research reported within this thesis is my own work except where otherwise stated, and has not been submitted for any other degree. Gayle Overend 3 Abstract The insect Malpighian tubule is involved in osmoregulation, detoxification and immune function, physiological processes which are essential for insect development and survival. As the Malpighian tubules contain many ion channels and transporters, they could be an effective tissue for targeting with novel pesticides to control populations of Diptera. Many of the insecticide compounds used to control insect pest species are no longer suited to their task, and so new means of control must be found. -
The Role of Breast Cancer Resistance Protein in Acute Lymphoblastic Leukemia
Vol. 9, 5171–5177, November 1, 2003 Clinical Cancer Research 5171 Featured Article The Role of Breast Cancer Resistance Protein in Acute Lymphoblastic Leukemia Sabine L. A. Plasschaert, 0.013). The influence of FTC on mitoxantrone accumulation > P ;0.52 ؍ Dorina M. van der Kolk, Eveline S. J. M. de Bont, correlated with ABCG2 protein expression (r ؍ Willem A. Kamps, Kuniaki Morisaki, 0.001; n 43). The increase in mitoxantrone accumulation, when FTC was added to cells treated with both PSC 833 and Susan E. Bates, George L. Scheffer, MK-571, correlated with the ABCG2 expression in B-lineage Rik J. Scheper, Edo Vellenga, and ALL but not in T-lineage ALL. Sequencing the ABCG2 gene Elisabeth G. E. de Vries1 revealed no ABCG2 mutation at position 482 in patients who Divisions of Pediatric Oncology and Hematology [S. L. A. P., accumulated more rhodamine after FTC. E. S. J. M. d. B., W. A. K.], Hematology [D. M. v. d. K., E. V.], and Conclusions: This study shows that ABCG2 is ex- Medical Oncology [E. G. E. d. V.], University Hospital Groningen, pressed higher and functionally more active in B-lineage Groningen 9713 GZ, the Netherlands; Division of Pathology, Free than in T-lineage ALL. University Medical Center, Amsterdam, the Netherlands [G. L. S., R. J. S.]; and National Cancer Institute, Medicine Branch, NIH, Bethesda, Maryland 20892 [S. E. B.] Introduction The prognosis of ALL2 has improved over the last decades, in children even more than in adults. Still, many ALL patients Abstract do not achieve a complete remission or develop a relapse (1, 2). -
The Role of Npxy Domains in LRP1 Receptor Maturation and Function
The role of NPxY domains in LRP1 receptor maturation and function Dissertation zur Erlangung des Grades „Doktor der Naturwissenschaften“ am Fachbereich Biologie der Johannes Gutenberg-Universität in Mainz von Thorsten Pflanzner geboren am 27. Februar 1981 in Nürnberg Mainz, im Dezember 2010 1 Dekan: 1. Berichterstatter: 2. Berichterstatter: Tag der mündlichen Prüfung: 2 TABLE OF CONTENTS 1. INTRODUCTION ............................................................................................................5 1.1. The low density lipoprotein receptor-related protein 1 (LRP1)...............................5 1.2. Early embryonic lethality of LRP1 deficient mice....................................................5 1.3. LRP1 in Alzheimer’s Disease (AD) ...........................................................................7 1.4. The BBB in AD...........................................................................................................8 1.4.1. Transporter-mediated clearance...........................................................................10 1.4.2. Receptor-mediated clearance...............................................................................13 1.5. Aims of the study......................................................................................................14 2. MATERIALS AND METHODS....................................................................................16 2.1. Sodium dodecylsulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and Western blot analysis of cell surface biotinylation -
Distribution of Glucose Transporters in Renal Diseases Leszek Szablewski
Szablewski Journal of Biomedical Science (2017) 24:64 DOI 10.1186/s12929-017-0371-7 REVIEW Open Access Distribution of glucose transporters in renal diseases Leszek Szablewski Abstract Kidneys play an important role in glucose homeostasis. Renal gluconeogenesis prevents hypoglycemia by releasing glucose into the blood stream. Glucose homeostasis is also due, in part, to reabsorption and excretion of hexose in the kidney. Lipid bilayer of plasma membrane is impermeable for glucose, which is hydrophilic and soluble in water. Therefore, transport of glucose across the plasma membrane depends on carrier proteins expressed in the plasma membrane. In humans, there are three families of glucose transporters: GLUT proteins, sodium-dependent glucose transporters (SGLTs) and SWEET. In kidney, only GLUTs and SGLTs protein are expressed. Mutations within genes that code these proteins lead to different renal disorders and diseases. However, diseases, not only renal, such as diabetes, may damage expression and function of renal glucose transporters. Keywords: Kidney, GLUT proteins, SGLT proteins, Diabetes, Familial renal glucosuria, Fanconi-Bickel syndrome, Renal cancers Background Because glucose is hydrophilic and soluble in water, lipid Maintenance of glucose homeostasis prevents pathological bilayer of plasma membrane is impermeable for it. There- consequences due to prolonged hyperglycemia or fore, transport of glucose into cells depends on carrier pro- hypoglycemia. Hyperglycemia leads to a high risk of vascu- teins that are present in the plasma membrane. In humans, lar complications, nephropathy, neuropathy and retinop- there are three families of glucose transporters: GLUT pro- athy. Hypoglycemia may damage the central nervous teins, encoded by SLC2 genes; sodium-dependent glucose system and lead to a higher risk of death.