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TSEN54 Rabbit Pab Antibody
TSEN54 rabbit pAb antibody Catalog No : Source: Concentration : Mol.Wt. (Da): A22945 Rabbit 1 mg/ml 58819 Applications WB,IHC,ELISA Reactivity Human Dilution WB: 1:500 - 1:2000. IHC: 1:100 - 1:300. ELISA: 1:20000. Not yet tested in other applications. Storage -20°C/1 year Specificity TSEN54 Polyclonal Antibody detects endogenous levels of TSEN54 protein. Source / Purification The antibody was affinity-purified from rabbit antiserum by affinity- chromatography using epitope-specific immunogen. Immunogen The antiserum was produced against synthesized peptide derived from human TSEN54. AA range:261-310 Uniprot No Q7Z6J9 Alternative names TSEN54; SEN54; tRNA-splicing endonuclease subunit Sen54; SEN54 homolog; HsSEN54; tRNA-intron endonuclease Sen54 Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Clonality Polyclonal Isotype IgG Conjugation Background tRNA splicing endonuclease subunit 54(TSEN54) Homo sapiens This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009], Other TSEN54, tRNA-splicing endonuclease subunit Sen54 Produtc Images： Application Key: WB-Western IP-Immunoprecipitation IHC-Immunohistochemistry ChIP-Chromatin Immunoprecipitation A AAB Biosciences Products www.aabsci.cn FOR RESEARCH USE ONLY. NOT FOR HUMAN OR DIAGNOSTIC USE. IF-Immunofluorescence F-Flow Cytometry E-P-ELISA-Peptide Species Cross-Reactivity Key: H-Human M-Mouse R-Rat Hm-Hamster Mk-Monkey Vir-Virus Mi-Mink C-Chicken Dm-D. melanogaster X-Xenopus Z-Zebrafish B-Bovine Dg-Dog Pg-Pig Sc-S. -
The Role of LIM Kinase 1 and Its Substrates in Cell Cycle Progression
University of Central Florida STARS Electronic Theses and Dissertations, 2004-2019 2014 The Role of LIM Kinase 1 and its Substrates in Cell Cycle Progression Lisa Ritchey University of Central Florida Part of the Medical Sciences Commons Find similar works at: https://stars.library.ucf.edu/etd University of Central Florida Libraries http://library.ucf.edu This Doctoral Dissertation (Open Access) is brought to you for free and open access by STARS. It has been accepted for inclusion in Electronic Theses and Dissertations, 2004-2019 by an authorized administrator of STARS. For more information, please contact [email protected]. STARS Citation Ritchey, Lisa, "The Role of LIM Kinase 1 and its Substrates in Cell Cycle Progression" (2014). Electronic Theses and Dissertations, 2004-2019. 1300. https://stars.library.ucf.edu/etd/1300 THE ROLE OF LIM KINASE 1 AND ITS SUBSTRATES IN CELL CYCLE PROGRESSION by LISA RITCHEY B.S. Florida State University 2007 M.S. University of Central Florida 2010 A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Burnett School of Biomedical Sciences in the College of Graduate Studies at the University of Central Florida Orlando, Florida Summer Term 2014 Major Professor: Ratna Chakrabarti © 2014 Lisa Ritchey ii ABSTRACT LIM Kinase 1 (LIMK1), a modulator of actin and microtubule dynamics, has been shown to be involved in cell cycle progression. In this study we examine the role of LIMK1 in G1 phase and mitosis. We found ectopic expression of LIMK1 resulted in altered expression of p27Kip1, the G1 phase Cyclin D1/Cdk4 inhibitor. -
A Genetic Screen Identifies the Triple T Complex Required for DNA Damage Signaling and ATM and ATR Stability
Downloaded from genesdev.cshlp.org on September 27, 2021 - Published by Cold Spring Harbor Laboratory Press A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability Kristen E. Hurov, Cecilia Cotta-Ramusino, and Stephen J. Elledge1 Howard Hughes Medical Institute and Department of Genetics, Harvard Medical School, Division of Genetics, Brigham and Women’s Hospital, Boston, Massachusetts 02115, USA In response to DNA damage, cells activate a complex signal transduction network called the DNA damage response (DDR). To enhance our current understanding of the DDR network, we performed a genome-wide RNAi screen to identify genes required for resistance to ionizing radiation (IR). Along with a number of known DDR genes, we discovered a large set of novel genes whose depletion leads to cellular sensitivity to IR. Here we describe TTI1 (Tel two-interacting protein 1) and TTI2 as highly conserved regulators of the DDR in mammals. TTI1 and TTI2 protect cells from spontaneous DNA damage, and are required for the establishment of the intra-S and G2/M checkpoints. TTI1 and TTI2 exist in multiple complexes, including a 2-MDa complex with TEL2 (telomere maintenance 2), called the Triple T complex, and phosphoinositide-3-kinase-related protein kinases (PIKKs) such as ataxia telangiectasia-mutated (ATM). The components of the TTT complex are mutually dependent on each other, and act as critical regulators of PIKK abundance and checkpoint signaling. [Keywords: TTI1; TEL2; TTI2; PIKK; TTT complex; IR sensitivity] Supplemental material is available at http://www.genesdev.org. Received April 5, 2010; revised version accepted July 22, 2010. -
Bayesian Hierarchical Modeling of High-Throughput Genomic Data with Applications to Cancer Bioinformatics and Stem Cell Differentiation
BAYESIAN HIERARCHICAL MODELING OF HIGH-THROUGHPUT GENOMIC DATA WITH APPLICATIONS TO CANCER BIOINFORMATICS AND STEM CELL DIFFERENTIATION by Keegan D. Korthauer A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy (Statistics) at the UNIVERSITY OF WISCONSIN–MADISON 2015 Date of final oral examination: 05/04/15 The dissertation is approved by the following members of the Final Oral Committee: Christina Kendziorski, Professor, Biostatistics and Medical Informatics Michael A. Newton, Professor, Statistics Sunduz Kele¸s,Professor, Biostatistics and Medical Informatics Sijian Wang, Associate Professor, Biostatistics and Medical Informatics Michael N. Gould, Professor, Oncology © Copyright by Keegan D. Korthauer 2015 All Rights Reserved i in memory of my grandparents Ma and Pa FL Grandma and John ii ACKNOWLEDGMENTS First and foremost, I am deeply grateful to my thesis advisor Christina Kendziorski for her invaluable advice, enthusiastic support, and unending patience throughout my time at UW-Madison. She has provided sound wisdom on everything from methodological principles to the intricacies of academic research. I especially appreciate that she has always encouraged me to eke out my own path and I attribute a great deal of credit to her for the successes I have achieved thus far. I also owe special thanks to my committee member Professor Michael Newton, who guided me through one of my first collaborative research experiences and has continued to provide key advice on my thesis research. I am also indebted to the other members of my thesis committee, Professor Sunduz Kele¸s,Professor Sijian Wang, and Professor Michael Gould, whose valuable comments, questions, and suggestions have greatly improved this dissertation. -
Supplement 1 Overview of Dystonia Genes
Supplement 1 Overview of genes that may cause dystonia in children and adolescents Gene (OMIM) Disease name/phenotype Mode of inheritance 1: (Formerly called) Primary dystonias (DYTs): TOR1A (605204) DYT1: Early-onset generalized AD primary torsion dystonia (PTD) TUBB4A (602662) DYT4: Whispering dystonia AD GCH1 (600225) DYT5: GTP-cyclohydrolase 1 AD deficiency THAP1 (609520) DYT6: Adolescent onset torsion AD dystonia, mixed type PNKD/MR1 (609023) DYT8: Paroxysmal non- AD kinesigenic dyskinesia SLC2A1 (138140) DYT9/18: Paroxysmal choreoathetosis with episodic AD ataxia and spasticity/GLUT1 deficiency syndrome-1 PRRT2 (614386) DYT10: Paroxysmal kinesigenic AD dyskinesia SGCE (604149) DYT11: Myoclonus-dystonia AD ATP1A3 (182350) DYT12: Rapid-onset dystonia AD parkinsonism PRKRA (603424) DYT16: Young-onset dystonia AR parkinsonism ANO3 (610110) DYT24: Primary focal dystonia AD GNAL (139312) DYT25: Primary torsion dystonia AD 2: Inborn errors of metabolism: GCDH (608801) Glutaric aciduria type 1 AR PCCA (232000) Propionic aciduria AR PCCB (232050) Propionic aciduria AR MUT (609058) Methylmalonic aciduria AR MMAA (607481) Cobalamin A deficiency AR MMAB (607568) Cobalamin B deficiency AR MMACHC (609831) Cobalamin C deficiency AR C2orf25 (611935) Cobalamin D deficiency AR MTRR (602568) Cobalamin E deficiency AR LMBRD1 (612625) Cobalamin F deficiency AR MTR (156570) Cobalamin G deficiency AR CBS (613381) Homocysteinuria AR PCBD (126090) Hyperphelaninemia variant D AR TH (191290) Tyrosine hydroxylase deficiency AR SPR (182125) Sepiaterine reductase -
Effect of Citric Acid Cycle Genetic Variants and Their Interactions With
cancers Article Effect of Citric Acid Cycle Genetic Variants and Their Interactions with Obesity, Physical Activity and Energy Intake on the Risk of Colorectal Cancer: Results from a Nested Case-Control Study in the UK Biobank Sooyoung Cho 1 , Nan Song 2,3 , Ji-Yeob Choi 2,4,5 and Aesun Shin 1,2,* 1 Department of Preventive Medicine, Seoul National University College of Medicine, Seoul 03080, Korea; [email protected] 2 Cancer Research Institute, Seoul National University, Seoul 03080, Korea; [email protected] (N.S.); [email protected] (J.-Y.C.) 3 Department of Epidemiology and Cancer Control, St. Jude Children’s Research Hospital, Memphis, TN 38105, USA 4 Department of Biomedical Sciences, Graduate School of Seoul National University, Seoul 03080, Korea 5 Medical Research Center, Institute of Health Policy and Management, Seoul National University, Seoul 03080, Korea * Correspondence: [email protected]; Tel.: +82-2-740-8331; Fax: +82-2-747-4830 Received: 18 August 2020; Accepted: 9 October 2020; Published: 12 October 2020 Simple Summary: The citric acid cycle has a central role in the cellular energy metabolism and biosynthesis of macromolecules in the mitochondrial matrix. We identified the single nucleotide polymorphisms (SNPs) of the citrate acid cycle with colorectal cancer susceptibility in UK population. Furthermore, we found the significant interaction of SNPs in the citric acid cycle with the contributors to energy balance and SNP-SNP interactions. Our findings provide clues to the etiology in cancer development related to energy metabolism and evidence on identification of the population at high risk of colorectal cancer. -
Molecular Profile of Tumor-Specific CD8+ T Cell Hypofunction in a Transplantable Murine Cancer Model
Downloaded from http://www.jimmunol.org/ by guest on September 25, 2021 T + is online at: average * The Journal of Immunology , 34 of which you can access for free at: 2016; 197:1477-1488; Prepublished online 1 July from submission to initial decision 4 weeks from acceptance to publication 2016; doi: 10.4049/jimmunol.1600589 http://www.jimmunol.org/content/197/4/1477 Molecular Profile of Tumor-Specific CD8 Cell Hypofunction in a Transplantable Murine Cancer Model Katherine A. Waugh, Sonia M. Leach, Brandon L. Moore, Tullia C. Bruno, Jonathan D. Buhrman and Jill E. Slansky J Immunol cites 95 articles Submit online. Every submission reviewed by practicing scientists ? is published twice each month by Receive free email-alerts when new articles cite this article. Sign up at: http://jimmunol.org/alerts http://jimmunol.org/subscription Submit copyright permission requests at: http://www.aai.org/About/Publications/JI/copyright.html http://www.jimmunol.org/content/suppl/2016/07/01/jimmunol.160058 9.DCSupplemental This article http://www.jimmunol.org/content/197/4/1477.full#ref-list-1 Information about subscribing to The JI No Triage! Fast Publication! Rapid Reviews! 30 days* Why • • • Material References Permissions Email Alerts Subscription Supplementary The Journal of Immunology The American Association of Immunologists, Inc., 1451 Rockville Pike, Suite 650, Rockville, MD 20852 Copyright © 2016 by The American Association of Immunologists, Inc. All rights reserved. Print ISSN: 0022-1767 Online ISSN: 1550-6606. This information is current as of September 25, 2021. The Journal of Immunology Molecular Profile of Tumor-Specific CD8+ T Cell Hypofunction in a Transplantable Murine Cancer Model Katherine A. -
Hypopituitarism May Be an Additional Feature of SIM1 and POU3F2 Containing 6Q16 Deletions in Children with Early Onset Obesity
Open Access Journal of Pediatric Endocrinology Case Report Hypopituitarism may be an Additional Feature of SIM1 and POU3F2 Containing 6q16 Deletions in Children with Early Onset Obesity Rutteman B1, De Rademaeker M2, Gies I1, Van den Bogaert A2, Zeevaert R1, Vanbesien J1 and De Abstract Schepper J1* Over the past decades, 6q16 deletions have become recognized as a 1Department of Pediatric Endocrinology, UZ Brussel, frequent cause of the Prader-Willi-like syndrome. Involvement of SIM1 in the Belgium deletion has been linked to the development of obesity. Although SIM1 together 2Department of Genetics, UZ Brussel, Belgium with POU3F2, which is located close to the SIM1 locus, are involved in pituitary *Corresponding author: De Schepper J, Department development and function, pituitary dysfunction has not been reported frequently of Pediatric Endocrinology, UZ Brussel, Belgium in cases of 6q16.1q16.3 deletion involving both genes. Here we report on a case of a girl with typical Prader-Willi-like symptoms including early-onset Received: December 23, 2016; Accepted: February 21, hyperphagic obesity, hypotonia, short hands and feet and neuro-psychomotor 2017; Published: February 22, 2017 development delay. Furthermore, she suffered from central diabetes insipidus, central hypothyroidism and hypocortisolism. Her genetic defect is a 6q16.1q16.3 deletion, including SIM1 and POU3F2. We recommend searching for a 6q16 deletion in children with early onset hyperphagic obesity associated with biological signs of hypopituitarism and/or polyuria-polydipsia syndrome. The finding of a combined SIM1 and POU3F2 deletion should prompt monitoring for the development of hypopituitarism, if not already present at diagnosis. Keywords: 6q16 deletion; SIM1; POU3F2; Prader-Willi-like syndrome; Hypopituitarism Introduction insipidus and of some specific pituitary hormone deficiencies in children with a combined SIM1 and POU3F2 deficiency. -
Dynamics of Meiotic Sex Chromosome Inactivation And
bioRxiv preprint doi: https://doi.org/10.1101/665372; this version posted June 10, 2019. 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-ND 4.0 International license. 1 Dynamics of Meiotic Sex Chromosome Inactivation 2 and Pachytene Activation in Mice Spermatogenesis 3 4 Ábel Vértesy1,2; Javier Frias-Aldeguer1,4; Zeliha Sahin1,3; Nicolas Rivron1,4; Alexander van 5 Oudenaarden1,2 and Niels Geijsen1,5 6 7 1. Hubrecht Institute-KNAW (Royal Netherlands Academy of Arts and Sciences) and 8 University Medical Center, 3584 CT Utrecht, The Netherlands 9 2. Department of Genetics, Center for Molecular Medicine, Cancer Genomics Netherlands, 10 University Medical Center Utrecht, The Netherlands 11 3. Academic Medical Center, Amsterdam, The Netherlands 12 4. MERLN Institute for Technology-Inspired Regenerative Medicine, Maastricht University, 13 The Netherlands 14 5. Faculty of Veterinary Medicine, Clinical Sciences of Companion Animals, Utrecht 15 University, The Netherlands 16 17 Abstract 18 During germ cell development, cells undergo a drastic switch from mitosis to meiosis to 19 form haploid germ cells. Sequencing and computational technologies now allow studying 20 development at the single-cell level. Here we developed a multiplexed trajectory 21 reconstruction to create a high-resolution developmental map of spermatogonia and 22 prophase-I spermatocytes from testes of a Dazl-GFP reporter mouse. We identified three 23 main transitions in the meiotic prophase-I: meiotic entry, the meiotic sex chromosome 24 inactivation (MSCI), and concomitant pachytene activation. -
CD29 Identifies IFN-Γ–Producing Human CD8+ T Cells With
+ CD29 identifies IFN-γ–producing human CD8 T cells with an increased cytotoxic potential Benoît P. Nicoleta,b, Aurélie Guislaina,b, Floris P. J. van Alphenc, Raquel Gomez-Eerlandd, Ton N. M. Schumacherd, Maartje van den Biggelaarc,e, and Monika C. Wolkersa,b,1 aDepartment of Hematopoiesis, Sanquin Research, 1066 CX Amsterdam, The Netherlands; bLandsteiner Laboratory, Oncode Institute, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; cDepartment of Research Facilities, Sanquin Research, 1066 CX Amsterdam, The Netherlands; dDivision of Molecular Oncology and Immunology, Oncode Institute, The Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands; and eDepartment of Molecular and Cellular Haemostasis, Sanquin Research, 1066 CX Amsterdam, The Netherlands Edited by Anjana Rao, La Jolla Institute for Allergy and Immunology, La Jolla, CA, and approved February 12, 2020 (received for review August 12, 2019) Cytotoxic CD8+ T cells can effectively kill target cells by producing therefore developed a protocol that allowed for efficient iso- cytokines, chemokines, and granzymes. Expression of these effector lation of RNA and protein from fluorescence-activated cell molecules is however highly divergent, and tools that identify and sorting (FACS)-sorted fixed T cells after intracellular cytokine + preselect CD8 T cells with a cytotoxic expression profile are lacking. staining. With this top-down approach, we performed an un- + Human CD8 T cells can be divided into IFN-γ– and IL-2–producing biased RNA-sequencing (RNA-seq) and mass spectrometry cells. Unbiased transcriptomics and proteomics analysis on cytokine- γ– – + + (MS) analyses on IFN- and IL-2 producing primary human producing fixed CD8 T cells revealed that IL-2 cells produce helper + + + CD8 Tcells. -
'Next- Generation' Sequencing Data Analysis
Novel Algorithm Development for ‘Next- Generation’ Sequencing Data Analysis Agne Antanaviciute Submitted in accordance with the requirements for the degree of Doctor of Philosophy University of Leeds School of Medicine Leeds Institute of Biomedical and Clinical Sciences 12/2017 ii The candidate confirms that the work submitted is her own, except where work which has formed part of jointly-authored publications has been included. The contribution of the candidate and the other authors to this work has been explicitly given within the thesis where reference has been made to the work of others. This copy has been supplied on the understanding that it is copyright material and that no quotation from the thesis may be published without proper acknowledgement ©2017 The University of Leeds and Agne Antanaviciute The right of Agne Antanaviciute to be identified as Author of this work has been asserted by her in accordance with the Copyright, Designs and Patents Act 1988. Acknowledgements I would like to thank all the people who have contributed to this work. First and foremost, my supervisors Dr Ian Carr, Professor David Bonthron and Dr Christopher Watson, who have provided guidance, support and motivation. I could not have asked for a better supervisory team. I would also like to thank my collaborators Dr Belinda Baquero and Professor Adrian Whitehouse for opening new, interesting research avenues. A special thanks to Dr Belinda Baquero for all the hard wet lab work without which at least half of this thesis would not exist. Thanks to everyone at the NGS Facility – Carolina Lascelles, Catherine Daley, Sally Harrison, Ummey Hany and Laura Crinnion – for the generation of NGS data used in this work and creating a supportive and stimulating work environment. -
Phenotypic Spectrum and Long-Term Outcome in Children with Genetic Causes of Early-Onset Epileptic Encephalopathy
Phenotypic Spectrum and Long-term Outcome in Children With Genetic Causes of Early-onset Epileptic Encephalopathy Chunhui Hu Department of Neurology, Children’s Hospital of Fudan University Deying Liu Wuhan Children’s hospital, Tongji Medical college, Huazhong University of Science & Technology Tian Luo Department of Neurology, Children’s Hospital of Fudan University Yi Wang ( [email protected] ) Department of Neurology, Children’s Hospital of Fudan University Zhisheng Liu Wuhan Children’s hospital, Tongji Medical college, Huazhong University of Science & Technology Research Article Keywords: Phenotypic spectrum, Long-term outcome, Genetic, EOEE, Therapy Posted Date: March 11th, 2021 DOI: https://doi.org/10.21203/rs.3.rs-257334/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 1/23 Abstract Background To explore the clinical phenotype and long-term outcome in children with genetic causes of early-onset epileptic encephalopathies. Methods The clinical data of 118 children between 2010 and 2020 was obtained and analyzed. The whole exome sequencing and copy number variation studies in family were used to nd pathogenic mutations. The conrmed mutations were veried by Sanger sequencing. Results Among 118 patients, 39 patients were diagnosed with DS, 18 were WS, 3 were OS, 3 were EME, 2 were MMFSI, 1 was GLUT1 deciency syndrome, 1 was Pyridoxine dependent epilepsy and 51 were non-symptomatic EOEEs. The initial EEG showed frequent multiple and multifocal sharp waves, spike waves, sharp slow waves or spike slow waves. In the later period, some transformed into infrequent discharging or normal EEG. 112 patients (112/118, 94.9%) showed normal brain MRI, and the remaining 6 had widened extracerebral space.