HEATR1 Polyclonal Antibody

Total Page：16

File Type：pdf, Size：1020Kb

PRODUCT DATA SHEET Bioworld Technology,Inc. HEATR1 polyclonal antibody Catalog: BS60792 Host: Rabbit Reactivity: Human,Mouse,Rat BackGround: Applications: HEATR1 (HEAT repeat containing 1), also known as WB: 1:500~1:1000 BAP28, is a 2,144 amino acid nuclear protein involved in Storage&Stability: nucleolar processing of pre-18S ribosomal RNA. Store at 4°C short term. Aliquot and store at -20°C long HEATR1 is a member of the HEATR1/UTP10 family and term. Avoid freeze-thaw cycles. contains one HEAT repeat. The gene encoding HEATR1 Specificity: is located on human chromosome 1, which spans 260 HEATR1 polyclonal antibody detects endogenous levels million base pairs, contains over 3,000 genes and com- of HEATR1 protein. prises nearly 8% of the human genome. Chromosome 1 DATA: houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gau- cher disease, schizophrenia and Usher syndrome. Aberra- tions in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma. Product: Western blot (WB) analysis of HEATR1 polyclonal antibody at 1:500 Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, dilution 50% glycerol, pH7.2 Lane1:HEK293T whole cell lysate Molecular Weight: Lane2:sp2/0 whole cell lysate ~ 242 kDa Lane3:PC12 whole cell lysate Swiss-Prot: Note: Q9H583 For research use only, not for use in diagnostic procedure. Purification&Purity: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific im- munogen and the purity is > 95% (by SDS-PAGE). Bioworld Technology, Inc. Bioworld technology, co. Ltd. Add： 1660 South Highway 100, Suite 500 St. Louis Park, Add： No 9, weidi road Qixia District Nanjing, 210046, MN 55416,USA. P. R. China. Email: [email protected] Email: [email protected] Tel: 6123263284 Tel: 0086-025-68037686 Fax: 6122933841 Fax: 0086-025-68035151 .

Copy Link

Recommended publications

Identifizierung Und Charakterisierung Von T-Zell-Definierten Antigenen
Identifizierung und Charakterisierung von Zielantigenen alloreaktiver zytotoxischer T-Zellen mittels cDNA-Bank-Expressionsklonierung in akuten myeloischen Leukämien Dissertation zur Erlangung des Grades Doktor der Naturwissenschaften am Fachbereich Biologie der Johannes Gutenberg-Universität Mainz Sabine Domning Mainz, 2012 Fachbereich Biologie der Johannes Gutenberg-Universität Mainz Dekan: 1.Berichterstatter: 2.Berichterstatter: Tag der mündlichen Prüfung: ZUSAMMENFASSUNG Zusammenfassung Allogene hämatopoetische Stammzelltransplantationen (HSZTs) werden insbesondere zur Behandlung von Patienten mit Hochrisiko-Leukämien durchgeführt. Dabei bewirken T- Zellreaktionen gegen Minorhistokompatibilitätsantigene (mHAgs) sowohl den therapeutisch erwünschten graft-versus-leukemia (GvL)-Effekt als auch die schädigende graft-versus-host (GvH)- Erkrankung. Für die Identifizierung neuer mHAgs mittels des T-Zell-basierten cDNA- Expressionsscreenings waren leukämiereaktive T-Zellpopulationen durch Stimulation naïver CD8+- T-Lymphozyten gesunder HLA-Klasse I-identischer Buffy Coat-Spender mit Leukämiezellen von Patienten mit akuter myeloischer Leukämie (AML) generiert worden (Albrecht et al., Cancer Immunol. Immunother. 60:235, 2011). Im Rahmen der vorliegenden Arbeit wurde mit diesen im AML-Modell des Patienten MZ529 das mHAg CYBA-72Y identifiziert. Es resultiert aus einem bekannten Einzelnukleotidpolymorphismus (rs4673: CYBA-242T/C) des Gens CYBA (kodierend für Cytochrom b-245 α-Polypeptid; syn.: p22phox), der zu einem Austausch von Tyrosin (Y) zu Histidin (H) an Aminosäureposition 72 führt. Das mHAg wurde von T-Lymphozyten sowohl in Assoziation mit HLA-B*15:01 als auch mit HLA-B*15:07 erkannt. Eine allogene T-Zellantwort gegen CYBA-72Y wurde in einem weiteren AML-Modell (MZ987) beobachtet, die ebenso wie in dem AML-Modell MZ529 polyklonal war. Insgesamt konnte bei drei von fünf getesteten HLA-B*15:01-positiven Buffy Coat-Spendern, die homozygot für CYBA-72H (H/H) waren, eine CYBA-72Y-spezifische T- Zellantwort generiert werden.
[Show full text]
A Master Autoantigen-Ome Links Alternative Splicing, Female Predilection, and COVID-19 to Autoimmune Diseases
bioRxiv preprint doi: https://doi.org/10.1101/2021.07.30.454526; this version posted August 4, 2021. 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 4.0 International license. A Master Autoantigen-ome Links Alternative Splicing, Female Predilection, and COVID-19 to Autoimmune Diseases Julia Y. Wang1*, Michael W. Roehrl1, Victor B. Roehrl1, and Michael H. Roehrl2* 1 Curandis, New York, USA 2 Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, USA * Correspondence: [email protected] or [email protected] 1 bioRxiv preprint doi: https://doi.org/10.1101/2021.07.30.454526; this version posted August 4, 2021. 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 4.0 International license. Abstract Chronic and debilitating autoimmune sequelae pose a grave concern for the post-COVID-19 pandemic era. Based on our discovery that the glycosaminoglycan dermatan sulfate (DS) displays peculiar affinity to apoptotic cells and autoantigens (autoAgs) and that DS-autoAg complexes cooperatively stimulate autoreactive B1 cell responses, we compiled a database of 751 candidate autoAgs from six human cell types. At least 657 of these have been found to be affected by SARS-CoV-2 infection based on currently available multi-omic COVID data, and at least 400 are confirmed targets of autoantibodies in a wide array of autoimmune diseases and cancer.
[Show full text]
Nº Ref Uniprot Proteína Péptidos Identificados Por MS/MS 1 P01024
Document downloaded from http://www.elsevier.es, day 26/09/2021. This copy is for personal use. Any transmission of this document by any media or format is strictly prohibited. Nº Ref Uniprot Proteína Péptidos identificados 1 P01024 CO3_HUMAN Complement C3 OS=Homo sapiens GN=C3 PE=1 SV=2 por 162MS/MS 2 P02751 FINC_HUMAN Fibronectin OS=Homo sapiens GN=FN1 PE=1 SV=4 131 3 P01023 A2MG_HUMAN Alpha-2-macroglobulin OS=Homo sapiens GN=A2M PE=1 SV=3 128 4 P0C0L4 CO4A_HUMAN Complement C4-A OS=Homo sapiens GN=C4A PE=1 SV=1 95 5 P04275 VWF_HUMAN von Willebrand factor OS=Homo sapiens GN=VWF PE=1 SV=4 81 6 P02675 FIBB_HUMAN Fibrinogen beta chain OS=Homo sapiens GN=FGB PE=1 SV=2 78 7 P01031 CO5_HUMAN Complement C5 OS=Homo sapiens GN=C5 PE=1 SV=4 66 8 P02768 ALBU_HUMAN Serum albumin OS=Homo sapiens GN=ALB PE=1 SV=2 66 9 P00450 CERU_HUMAN Ceruloplasmin OS=Homo sapiens GN=CP PE=1 SV=1 64 10 P02671 FIBA_HUMAN Fibrinogen alpha chain OS=Homo sapiens GN=FGA PE=1 SV=2 58 11 P08603 CFAH_HUMAN Complement factor H OS=Homo sapiens GN=CFH PE=1 SV=4 56 12 P02787 TRFE_HUMAN Serotransferrin OS=Homo sapiens GN=TF PE=1 SV=3 54 13 P00747 PLMN_HUMAN Plasminogen OS=Homo sapiens GN=PLG PE=1 SV=2 48 14 P02679 FIBG_HUMAN Fibrinogen gamma chain OS=Homo sapiens GN=FGG PE=1 SV=3 47 15 P01871 IGHM_HUMAN Ig mu chain C region OS=Homo sapiens GN=IGHM PE=1 SV=3 41 16 P04003 C4BPA_HUMAN C4b-binding protein alpha chain OS=Homo sapiens GN=C4BPA PE=1 SV=2 37 17 Q9Y6R7 FCGBP_HUMAN IgGFc-binding protein OS=Homo sapiens GN=FCGBP PE=1 SV=3 30 18 O43866 CD5L_HUMAN CD5 antigen-like OS=Homo
[Show full text]
Genome-Wide CRISPR-Cas9 Screens Reveal Loss of Redundancy Between PKMYT1 and WEE1 in Glioblastoma Stem-Like Cells
Article Genome-wide CRISPR-Cas9 Screens Reveal Loss of Redundancy between PKMYT1 and WEE1 in Glioblastoma Stem-like Cells Graphical Abstract Authors Chad M. Toledo, Yu Ding, Pia Hoellerbauer, ..., Bruce E. Clurman, James M. Olson, Patrick J. Paddison Correspondence [email protected] (J.M.O.), [email protected] (P.J.P.) In Brief Patient-derived glioblastoma stem-like cells (GSCs) can be grown in conditions that preserve patient tumor signatures and their tumor initiating capacity. Toledo et al. use these conditions to perform genome-wide CRISPR-Cas9 lethality screens in both GSCs and non- transformed NSCs, revealing PKMYT1 as a candidate GSC-lethal gene. Highlights d CRISPR-Cas9 lethality screens performed in patient brain- tumor stem-like cells d PKMYT1 is identiﬁed in GSCs, but not NSCs, as essential for facilitating mitosis d PKMYT1 and WEE1 act redundantly in NSCs, where their inhibition is synthetic lethal d PKMYT1 and WEE1 redundancy can be broken by over- activation of EGFR and AKT Toledo et al., 2015, Cell Reports 13, 2425–2439 December 22, 2015 ª2015 The Authors http://dx.doi.org/10.1016/j.celrep.2015.11.021 Cell Reports Article Genome-wide CRISPR-Cas9 Screens Reveal Loss of Redundancy between PKMYT1 and WEE1 in Glioblastoma Stem-like Cells Chad M. Toledo,1,2,14 Yu Ding,1,14 Pia Hoellerbauer,1,2 Ryan J. Davis,1,2,3 Ryan Basom,4 Emily J. Girard,3 Eunjee Lee,5 Philip Corrin,1 Traver Hart,6,7 Hamid Bolouri,1 Jerry Davison,4 Qing Zhang,4 Justin Hardcastle,1 Bruce J. Aronow,8 Christopher L.
[Show full text]
Minor Histocompatibility Ags: Identification Strategies, Clinical Results and Translational Perspectives
Bone Marrow Transplantation (2016) 51, 163–171 © 2016 Macmillan Publishers Limited All rights reserved 0268-3369/16 www.nature.com/bmt REVIEW Minor histocompatibility Ags: identification strategies, clinical results and translational perspectives R Oostvogels1,2,3, HM Lokhorst3 and T Mutis1,3 Allogeneic stem cell transplantation (allo-SCT) and donor lymphocyte infusion are effective treatment modalities for various hematological malignancies. Their therapeutic effect, the graft-versus-tumor (GvT) effect, is based mainly on an alloimmune response of donor T cells directed at tumor cells, in which differences in the expression of minor histocompatibility Ags (mHags) on the cells of the patient and donor have a crucial role. However, these differences are also responsible for induction of sometimes detrimental GvHD. As relapse and development of GvHD pose major threats for a large proportion of allotransplanted patients, additional therapeutic strategies are required. To augment the GvT response without increasing the risk of GvHD, specific mHag- directed immunotherapeutic strategies have been developed. Over the past years, much effort has been put into the identification of therapeutically relevant mHags to enable these strategies for a substantial proportion of patients. Currently, the concept of mHag-directed immunotherapy is tested in clinical trials on feasibility, safety and efficacy. In this review, we will summarize the recent developments in mHag identification and the clinical data on mHag-specific immune responses and mHag-directed
[Show full text]
Molecular Targeting and Enhancing Anticancer Efficacy of Oncolytic HSV-1 to Midkine Expressing Tumors
University of Cincinnati Date: 12/20/2010 I, Arturo R Maldonado , hereby submit this original work as part of the requirements for the degree of Doctor of Philosophy in Developmental Biology. It is entitled: Molecular Targeting and Enhancing Anticancer Efficacy of Oncolytic HSV-1 to Midkine Expressing Tumors Student's name: Arturo R Maldonado This work and its defense approved by: Committee chair: Jeffrey Whitsett Committee member: Timothy Crombleholme, MD Committee member: Dan Wiginton, PhD Committee member: Rhonda Cardin, PhD Committee member: Tim Cripe 1297 Last Printed:1/11/2011 Document Of Defense Form Molecular Targeting and Enhancing Anticancer Efficacy of Oncolytic HSV-1 to Midkine Expressing Tumors A dissertation submitted to the Graduate School of the University of Cincinnati College of Medicine in partial fulfillment of the requirements for the degree of DOCTORATE OF PHILOSOPHY (PH.D.) in the Division of Molecular & Developmental Biology 2010 By Arturo Rafael Maldonado B.A., University of Miami, Coral Gables, Florida June 1993 M.D., New Jersey Medical School, Newark, New Jersey June 1999 Committee Chair: Jeffrey A. Whitsett, M.D. Advisor: Timothy M. Crombleholme, M.D. Timothy P. Cripe, M.D. Ph.D. Dan Wiginton, Ph.D. Rhonda D. Cardin, Ph.D. ABSTRACT Since 1999, cancer has surpassed heart disease as the number one cause of death in the US for people under the age of 85. Malignant Peripheral Nerve Sheath Tumor (MPNST), a common malignancy in patients with Neurofibromatosis, and colorectal cancer are midkine- producing tumors with high mortality rates. In vitro and preclinical xenograft models of MPNST were utilized in this dissertation to study the role of midkine (MDK), a tumor-specific gene over- expressed in these tumors and to test the efficacy of a MDK-transcriptionally targeted oncolytic HSV-1 (oHSV).
[Show full text]
UC San Diego Electronic Theses and Dissertations
UC San Diego UC San Diego Electronic Theses and Dissertations Title Cardiac Stretch-Induced Transcriptomic Changes are Axis-Dependent Permalink https://escholarship.org/uc/item/7m04f0b0 Author Buchholz, Kyle Stephen Publication Date 2016 Peer reviewed|Thesis/dissertation eScholarship.org Powered by the California Digital Library University of California UNIVERSITY OF CALIFORNIA, SAN DIEGO Cardiac Stretch-Induced Transcriptomic Changes are Axis-Dependent A dissertation submitted in partial satisfaction of the requirements for the degree Doctor of Philosophy in Bioengineering by Kyle Stephen Buchholz Committee in Charge: Professor Jeffrey Omens, Chair Professor Andrew McCulloch, Co-Chair Professor Ju Chen Professor Karen Christman Professor Robert Ross Professor Alexander Zambon 2016 Copyright Kyle Stephen Buchholz, 2016 All rights reserved Signature Page The Dissertation of Kyle Stephen Buchholz is approved and it is acceptable in quality and form for publication on microfilm and electronically: Co-Chair Chair University of California, San Diego 2016 iii Dedication To my beautiful wife, Rhia. iv Table of Contents Signature Page ................................................................................................................... iii Dedication .......................................................................................................................... iv Table of Contents ................................................................................................................ v List of Figures ...................................................................................................................
[Show full text]
Coexpression Networks Based on Natural Variation in Human Gene Expression at Baseline and Under Stress
University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations Fall 2010 Coexpression Networks Based on Natural Variation in Human Gene Expression at Baseline and Under Stress Renuka Nayak University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the Computational Biology Commons, and the Genomics Commons Recommended Citation Nayak, Renuka, "Coexpression Networks Based on Natural Variation in Human Gene Expression at Baseline and Under Stress" (2010). Publicly Accessible Penn Dissertations. 1559. https://repository.upenn.edu/edissertations/1559 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/1559 For more information, please contact [email protected]. Coexpression Networks Based on Natural Variation in Human Gene Expression at Baseline and Under Stress Abstract Genes interact in networks to orchestrate cellular processes. Here, we used coexpression networks based on natural variation in gene expression to study the functions and interactions of human genes. We asked how these networks change in response to stress. First, we studied human coexpression networks at baseline. We constructed networks by identifying correlations in expression levels of 8.9 million gene pairs in immortalized B cells from 295 individuals comprising three independent samples. The resulting networks allowed us to infer interactions between biological processes. We used the network to predict the functions of poorly-characterized human genes, and provided some experimental support. Examining genes implicated in disease, we found that IFIH1, a diabetes susceptibility gene, interacts with YES1, which affects glucose transport. Genes predisposing to the same diseases are clustered non-randomly in the network, suggesting that the network may be used to identify candidate genes that influence disease susceptibility.
[Show full text]
Broadening Adenoviral Oncolysis in PDAC
Broadening Adenoviral Oncolysis in PDAC: Interrogation of Patient-Derived Organoids for personalized virotherapy and modulation of miRNA content to boost adenoviral potency Giulia Raimondi Aquesta tesi doctoral està subjecta a la llicència Reconeixement 4.0. Espanya de Creative Commons. Esta tesis doctoral está sujeta a la licencia Reconocimiento 4.0. España de Creative Commons. This doctoral thesis is licensed under the Creative Commons Attribution 4.0. Spain License. UNIVERSITAT DE BARCELONA FACULTAT DE FARMÀCIA I CIÈNCIES DE L’ALIMENTACIÓ Tesi dirigida per la Dra Cristina Fillat Fonts Grup de Teràpia Gènica i Càncer - IDIBAPS Broadening Adenoviral Oncolysis in PDAC: Interrogation of Patient-derived Organoids for personalized virotherapy and modulation of miRNA content to boost adenoviral potency Giulia Raimondi 2020 Abbreviations 5-FU 5-FluoroUracil Adwt Adenovirus Wild Type Specie C Serotype 5 ATCC American Type Culture Collection BAC Bacterial Artificial Chromosome BiTE Bi-specific T cell Engager bp Base Pair CAF Cancer Associated Fibroblasts CAR Coxsackie and Adenovirus Receptor cDNA copy DNA CK19 CytoKeratin 19 CMV CytoMegaloVirus CPE Cytoplasmatic Polyadenylation Element CRC Colorectal Cancer CSC Cancer Stem Cell DAPI 4,6-DiAmidino-2-PenilIndole DMEM Dulbecco’s Modified Eagle Medium DMSO DiMethyl SulfOxide DNA DeoxyriboNucleic Acid dNTPs deoxyNucleotides DTT DiThioThreitol E. Coli Escherichia Coli EBV Epstein-Barr Virus ECM Extra Cellular Matrix eGFP enhanced Green Fluorescence Protein EMT Epithelial Mesenchimal Transition FC
[Show full text]
A Novel Role for Nucleolin in Splice Site Selection
bioRxiv preprint doi: https://doi.org/10.1101/2020.12.02.402354; this version posted December 3, 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-ND 4.0 International license. A Novel Role for Nucleolin in Splice Site Selection Kinneret Shefer1,#, Ayub Boulos1,# , Valer Gotea2,# , Yair Ben Chaim3, Joseph Sperling4, Laura Elnitski2,* and Ruth Sperling1,* 1Department of Genetics, The Hebrew University of Jerusalem, Jerusalem 91904, Israel 2Translational and Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA 3Department of Natural Sciences, The Open University, Raanana 43107, Israel 4Department of Organic Chemistry, The Weizmann Institute of Science, Rehovot 76100, Israel # The first 3 authors should be regarded as joint First Authors * To whom correspondence should be addressed. Ruth Sperling Department of Genetics The Hebrew University of Jerusalem, Jerusalem 91904, Israel Tel: +972-54-882-0311 Fax: +972-2-658-6975 Email: [email protected] Correspondence may also be addressed to: Laura Elnitski Translational and Functional Genomics Branch National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA Tel: +1-301-451-0265 Fax: +1-301-402-4929 Email: [email protected] We would like to dedicate this manuscript to the memory of Joseph (Yossi) Sperling. Running Title: A Novel Role for Nucleolin in Splicing Keywords 5’ splice site selection, suppression of splicing, alternative splicing, endogenous spliceosome, latent splice sites, latent splicing, splicing regulation, mass spectrometry, RNA sequencing, bioinformatics analysis.
[Show full text]
1 INTRACELLULAR TRAFFICKING of AAV2 CAPSID MUTANTS and EFFECTS on GENE EXPRESSION by FIKRET AYDEMIR a DISSERTATION PRESENTED TO
INTRACELLULAR TRAFFICKING OF AAV2 CAPSID MUTANTS AND EFFECTS ON GENE EXPRESSION By FIKRET AYDEMIR A DISSERTATION PRESENTED TO THE GRADUATE SCHOOL OF THE UNIVERSITY OF FLORIDA IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY UNIVERSITY OF FLORIDA 2016 1 © 2016 Fikret Aydemir 2 To my wife, Dr. Tolunay Beker Aydemir 3 ACKNOWLEDGMENTS I would like to thank my dissertation adviser Nicholas Muzyczka and committee members Mavis Agbandje-McKenna, Sergei Zolutukhin and Arun Srivastava. They invested a lot of time, energy and funding for my doctoral training. This dissertation wouldn’t have happened without them. I would like to thank them for their patience and understanding. I have been very fortunate to have an opportunity to work in Dr. Muzyczka’s lab. I have been lucky to share my work space with very productive lab members. I am specifically thankful to Mrs. Weijun Chen, Dr. Hector Mendez-Gomez, Dr. Jasbir Singh and Maxim Salganik. University of Florida is home of Powell Gene Therapy Vector Core. I would like to thank Mr. Mark Potter and his colleagues for providing not only very valuable vectors but also troubleshooting experimental problems, as well. 4 TABLE OF CONTENTS page ACKNOWLEDGMENTS .................................................................................................. 4 LIST OF TABLES ............................................................................................................ 7 LIST OF FIGURES .........................................................................................................
[Show full text]
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-Like Syndrome
REPORT Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome Stefanie Weber,1,14,* Holger Thiele,2 Sevgi Mir,3 Mohammad Reza Toliat,2 Betu¨l Sozeri,3 Heiko Reutter,4,5 Markus Draaken,4,6 Michael Ludwig,7 Janine Altmu¨ller,2 Peter Frommolt,2,8 Helen M. Stuart,9 Parisa Ranjzad,9 Neil A. Hanley,9 Rachel Jennings,9 William G. Newman,10 Duncan T. Wilcox,11 Uwe Thiel,16 Karl Peter Schlingmann,12 Rolf Beetz,13 Peter F. Hoyer,1 Martin Konrad,12 Franz Schaefer,14 Peter Nu¨rnberg,2,8,15 and Adrian S. Woolf9 Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, deﬁning an isolated gene defect underlying this sometimes devas- tating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mende- lian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice. Lower urinary tract and/or kidney malformations account upon micturition.7 We restudied a family reported in for 40% of childhood end-stage renal failure.1 Advances 20055 when there were four surviving boys with congen- have been made in unraveling the genetic pathogenesis ital BOO born to consanguineous Turkish parents.
[Show full text]