21. OCRL CD041168, 186, AAAGTG^ACCAaCACCATGCGG, Lowe oculocerebrorenal syndrome, 1.CD972367, 274, CTTTGAA^TCTgTGAAGGAACA, Lowe oculocerebrorenal syndrome, 2 http://www.hgmd.cf.ac.uk/ac/ns/4/119461.html

OCRL Small deletions Accession Number Location/ codon Deletion Phenotype Reference AAAGTG^ACCAaCACCATGCGG Lowe oculocerebrorenal syndrome CTTTGAA^TCTgTGAAGGAACA Lowe oculocerebrorenal syndrome GGCTGTA^GAGagAGGTTTGCAT Lowe oculocerebrorenal syndrome ATTTCAC^AACaccACCTTTTGCA Lowe oculocerebrorenal syndrome AATAAG^AAAGaCCTTCAGAGA Lowe oculocerebrorenal syndrome CCCCACT^TATaagtatGACTCTAAAA Lowe oculocerebrorenal syndrome TGGAGA^GGAAcAAATGTTAAT Lowe oculocerebrorenal syndrome GAGAGGA^ACAaATGTTAATCA Lowe oculocerebrorenal syndrome AAATGAC^TTCcttcCTTCCTTAGA Lowe oculocerebrorenal syndrome AATGTG^AAGTtTCGGCAACTA Lowe oculocerebrorenal syndrome ACTACAA^AAGgagAAGTTCCAGA Lowe oculocerebrorenal syndrome AGCAAC^AATGgACAGGTTCCC Lowe oculocerebrorenal syndrome ACTTAAT^GACagccagtactgcaAGCCATGGCT Lowe oculocerebrorenal syndrome CTATTACCATgtatcatctcttacattTCAG_I17E18_AT^GAGA Lowe oculocerebrorenal syndrome AGCAAA^GACTctGTAACCATCC Lowe oculocerebrorenal syndrome CAAAGAC^TCTgtAACCATCCTG Lowe oculocerebrorenal syndrome GCCGT^ATGAAaAGACCAATCC Lowe oculocerebrorenal syndrome AG_I19E20_GAG^GACCTgTTCCAGACCC Lowe oculocerebrorenal syndrome GAAGAG^CTCCaGCAGATCATT Lowe oculocerebrorenal syndrome CAACCAC^TCTgtGGCTGAAGCA Lowe oculocerebrorenal syndrome TTAAAAACAG_I21E22_gtgatctcccag^CTTCCGAGAT Lowe oculocerebrorenal syndrome TCCACCC^AACcTTATGGCAAG Lowe oculocerebrorenal syndrome References 1 - Addis (2004) Hum Mutat Online 2 - Lin (1997) ... Am J Hum Genet 6 - Gal (2001) OCRL Locus-specific database Unpublished data 7 - Lin (1998) Mol Genet Metab ... Hum Mol Genet HGMD

22. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Oculocereb MedlinePlus Medical Encyclopedia Fanconi’s syndromeLowe s disease (oculocerebrorenal syndrome), a rare genetic disorder of the eyes,brain, and kidneys, can also cause Fanconi s syndrome. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Oculocerebrorenal Syndrome

23. Arch Ophthalmol -- Abstract: Cataracts And Glaucoma In Patients With Oculocerebr Background oculocerebrorenal syndrome is an Xlinked recessive hereditaryoculocerebrorenal disorder characterized by congenital cataract, http://archopht.ama-assn.org/cgi/content/abstract/121/9/1234

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 121 No. 9, September 2003 Featured Link E-mail Alerts Clinical Sciences Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Kruger SJ Saunders RA ISI Web of Science (1) Contact me when this article is cited Topic Collections Cataracts/ Lens Glaucoma Topic Collection Alerts Cataracts and Glaucoma in Patients With Oculocerebrorenal Syndrome Stacey J. Kruger, MD M. Edward Wilson, Jr, MD Amy K. Hutchinson, MD Mae Millicent Peterseim, MD Luanna R. Bartholomew, PhD Richard A. Saunders, MD Arch Ophthalmol. Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal

24. PharmGKB: Oculocerebrorenal Syndrome Dystrophy, Oculocerebrorenal; Lowe Bickel Syndrome; Lowe Disease; Loweoculocerebrorenal syndrome; Lowe Syndrome; Lowe Terrey MacLachlan Syndrome; http://www.pharmgkb.org/do/serve?objId=PA445138&objCls=Disease

25. OCRL - Oculocerebrorenal Syndrome Of Lowe Mutations linked to the disease oculocerebrorenal syndrome of Lowe led to theidentification of the OCRL gene. The encoded protein is a phospatidylinositol http://www.urogene.org/kgdb/gene/37.html

26. Oculocerebrorenal Syndrome (syn. Of Lowe Syndrome) ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity. http://www.thirdaid.com/conditions/Oculocerebrorenal_Syndrome.htm

27. OCULOCEREBRORENAL SYNDROME (Search FastHealth.com) OCULOCEREBRORENAL SYNDROME oculocerebrorenal syndrome FastHealth Medical Dictionary. http://www.fasthealth.com/dictionary/o/oculocerebrorenal_syndrome.php

Dictionary FastHealth Email This! n Lowe syndrome FastNurse Drug Search Hospital Search ... Dead Links FastHealth Corporation (Tuscaloosa, Alabama - Tuscaloosa County)

28. Fetal Oculocerebrorenal Syndrome Of Lowe Associated With Elevated Maternal Serum Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serumand amniotic fluid alphafetoprotein levels. RC Miller, EJ Wolf, M Gould, http://www.greenjournal.org/cgi/content/abstract/84/1/77

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Miller, R. Articles by Charnas, L. Articles Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels RC Miller, EJ Wolf, M Gould, CJ Macri, and LR Charnas HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS

29. Rare Diseases Terms - Office Of Rare Diseases Dresistant rickets, aminoaciduria, and reduced ammonia production by the kidney.Information about Lowe oculocerebrorenal syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=3295

30. 12398-cpr Lowe oculocerebrorenal syndrome. I am seraching for Labs performing moleculardiagnosis on Ataxia Telangiectasia and Lowe oculocerebrorenal syndrome. http://hum-molgen.org/clinical/151198-cpr1.html

HUM-MOLGEN DIAGnostics/Clinical Research November, 15 1998 Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome I am seraching for Labs performing molecular diagnosis on Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome. This message is especially urgent for AT: the family, with one affected and clinically diagnosed sib, is willing to have another child as soon as possible. Thanks in advance, 08950 Esplugues, Barcelona, Spain E-mail: emonros@HSJDBCN.ORG Tel: +34 93 2532100 ext 2275 Fax: +34 93 2803626

31. HUM-MOLGEN Archive: DIAG: 6 Messages Lowe oculocerebrorenal syndrome 2) BannayanZonana syndrome/ Cowden s 1) Ataxia Telangiectasia and Lowe oculocerebrorenal syndrome I am seraching http://hum-molgen.org/mail-archive/1998-Nov/msg00000.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages archive of HUM-MOLGEN mails Author Prev ][Author Next][ Thread Prev ][Thread Next][ Author Index Topic Index To: HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG: 6 messages From gambacorti@anprisc.anapat.istitutotumori.mi.it Date : Sun, 15 Nov 1998 09:03:20 +0100 Posted-Date: Sun, 15 Nov 1998 09:03:20 +0100 http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Prev by Author: BIOT: October 1998 Prev by thread: BIOT: October 1998 Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

32. Medical And Scientific References Chamas LR, Gahl WA (1991) The oculocerebrorenal syndrome of Lowe. Charnas LR,Nussbaum RL (1994) Lowe syndrome (The oculocerebrorenal syndrome of http://www.lowesyndrome.org/Lowe Syndrome/Publications/Living with Lowe Syndrome

breadCrumbs("www.lowesyndrome.org",">>","index.html","breadcrumbs","breadcrumbsTitle","breadcrumbs","0"); Living with Lowe Syndrome A Guide for Parents, Friends, and Professionals (©2000) Table Of Contents Foreword I. Frequently Asked Questions II. Background III. Medical Features IV. Genetics V. Research VI. Development and Education VII. Parents and Families: Living with LS VIII. The Lowe Syndrome Association IX. Glossary X.Medical and Scientific References X. Medical and Scientific References Following is a list of several significant papers published in recent years: Attree O, Olivos IM, Okabe I, Bafley LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL (1992): The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phophatase. Nature 358:239-242. Chamas LR, Bemardini I, Rader D, Hoeg J, Gahl WA (1991): Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. New England Journal of Medicine 324:1318-1325. Chamas LR, Gahl WA (1991): The oculocerebrorenal syndrome of Lowe. Advances in Pediatrics 38:75-107.

33. Lowe Syndrome Association OlivosGlander IM, Janne PA, Nussbaum RL (1995) The oculocerebrorenal syndromegene product is a 105-kD protein localized to the Golgi complex. http://www.lowesyndrome.org/Lowe Syndrome/Publications/On The Beam/otb1996v15n1-

breadCrumbs("www.lowesyndrome.org",">>","index.html","breadcrumbs","breadcrumbsTitle","breadcrumbs","0"); On The Beam Researchers discover Lowe syndrome gene causes enzyme deficiency Diagnostic test available soon In a stunning year-end announcement, researchers reported that they have discovered the basic metabolic defect in Lowe syndrome. In a paper published in the December 1995 issue of Human Molecular Genetics, Robert L. Nussbaum, M.D., and his colleagues at the National Institutes of Health in Bethesda, Maryland, reported their discovery that the defective Lowe syndrome gene causes the deficiency of an enzyme that is essential to inositol metabolism. The team's research indicated that cell lines from fibroblasts (skin samples) of individuals with Lowe syndrome are missing an enzyme called phosphatidylinositol 4,5-biphosphate 5 phosphatase. This enzyme removes one molecule of phosphate from a phospholipid called phosphatidylinositol 4,5-biphosphate (or PtdIns[4,5]P for short) and converts it into phosphatidylinositol 4-phosphate (PtdIns[4]P for short).

34. Geneticalliance.org Lowe syndrome Also known as oculocerebrorenal syndrome Support Groups Lowe Syndrome Association 222 Lincoln Street West Lafayette, IN 47906 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

35. Geneticalliance.org eMedicine Oculocerebrorenal Dystrophy (Lowe Syndrome)......Lowe syndrome Also known as oculocerebrorenal syndrome Clinical http://www.geneticalliance.org/ws_display.asp?filter=resources_by_disease&keywor

36. Congenital, Hereditary, And Neonatal Diseases And Abnormalities not on MeSH) oculocerebrorenal syndrome - oculocerebrorenal syndrome oculocerebrorenal syndrome. The Int l Lowe Syndrome Association, Inc. http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

37. Contributed By Dr The oculocerebrorenal syndrome of Lowe (OCRL) is caused by the loss of thephosphatidylinositol 4,5bisphosphate PI(4,5)P2 5-phosphatase activity encoded http://www.lowetrust.com/meeting021204.htm

back Press release email: lowetrust @ homechoice.co.uk (+44) 208-458-6791 2004 International Lowe Syndrome Medical Symposium at the Royal Society London Funded and organised by the charity, the first international conference on Lowe Syndrome was held on 2 nd December 2004 at The Royal Society in London, followed by a dinner at the RAC club. This historical event brought together over 50 international researchers, medical professionals and a parent to present and discuss the disease, current research underway and ideas for future projects. The outcome of the discussions on the links between Dents disease and Lowe syndrome clearly indicated that clinical syndromes as they are described in the medical literature are not simply accounted by a single or multiple gene defects. See Press Release The meeting was chaired by Prof. Robert Unwin UCL and was opened by Lord Turnberg, Scientific Advisor to the AMRC, followed by Prof. Nussbaum head of the cell biology division of the National Human Genome Research Institute in the United States. Robert discovered the Lowe's syndrome gene on the X-chromosome and has been instrumental in Lowe Syndrome research. Presenters included Dr. William van’t Hoff, Great Ormond Street Hospital

38. Orbigen Inc. - Orbigen Inc. oculocerebrorenal syndrome of Lowe (OCRL) polyclonal antibody manifestations ofLowe oculocerebrorenal syndrome which is characterized by hydrophthalmia http://www.orbigen.com/commerce/catalog/product.jsp?product_id=1730

39. OCRL - Inositol Polyphosphate 5-phosphatase OCRL-1 Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serumand amniotic fluid alphafetoprotein levels. Abstract-8223211. http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/90723.html

Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels. Abstract-8223211 Lowe syndrome protein interacts with Rac GTPase in the trans-Golgi network Abstract-10136291 Immunofluorescence studies in HEK and COS7 cells and Golgi perturbation assays with Brefeldin A demonstrated that a fraction of endogenous Rac co-localizes with and gamma-adaptin in the trans-Golgi network Abstract-10136291 Activated Rac GTPase was found to stably associate with the OCRL1 RhoGAP domain in vitro and to co-immunoprecipitate with endogenous Abstract-10136291 LOCR is excluded from the ABO, MNS, Lutheran, Kell, Duffy, Kidd, Xg, Chido/Rodgers, Kx , and Gerbich blood group systems. Abstract-8064603 Dd5P3 and Dd5P4 have a domain composition similar to human Synaptojanin with a SacI domain and OCRL with a RhoGAP domain, respectively. Abstract-9857040 The lods for the gene controlling LOCR relative to Rh are 2.107 at

40. Ocrl - Oculocerebrorenal Syndrome Of Lowe Abstract10136291. Please click here for more information on Ocrl. The followingsynonyms exist for gene Ocrl (oculocerebrorenal syndrome of Lowe) OCRL1. http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/145546.html

Lowe syndrome protein interacts with Rac GTPase in the trans-Golgi network Abstract-10136291 Immunofluorescence studies in HEK and COS7 cells and Golgi perturbation assays with Brefeldin A demonstrated that a fraction of endogenous Rac co-localizes with and gamma-adaptin in the trans-Golgi network Abstract-10136291 Activated Rac GTPase was found to stably associate with the OCRL1 RhoGAP domain in vitro and to co-immunoprecipitate with endogenous Abstract-10136291 We crossed mice deficient in to mice deficient in Abstract-1448756 protein is a phosphatidylinositol 4,5-bisphosphate 5-phosphatase with a C-terminal RhoGAP domain. Abstract-10136291 appears to be a bifunctional protein which, in addition to its PIP2 5-phosphatase activity, binds to Rac GTPase. Abstract-10136291 Functional overlap between murine and may explain why deficiency of the murine ortholog for does not cause Lowe syndrome in mice. Abstract-1448756 By immunofluorescence, the ocrl-1 antibody stains a juxtanuclear region in normal fibroblast cells, while no specific staining is evident in the

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