61. Human Protein: Q01968 - Inositol Polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe' Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent The Lowe s oculocerebrorenal syndrome gene encodes a protein highly http://harvester.embl.de/harvester/Q019/Q01968.htm

Human protein: Q01968 - Inositol polyphosphate 5-phosphatase OCRL-1 (EC ) (Lowe's oculocerebrorenal syndrome protein). EMBL FORUM Length: 901 aa , molecular weight: 104205 Da , CRC64 checksum: SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University OCRL Oculocerebrorenal syndrome of Lowe UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases OCRL1 GENE oculocerebrorenal syndrome of Lowe Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. SwissProt Information SwissProt Accession No. Inositol polyphosphate 5-phosphatase OCRL-1 (Homo sapiens) Function converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. may function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Disease defects in ocrl are the cause of lowe syndrome [mim:309000]; also known as lowe oculocerebrorenal syndrome. it is characterized by hydrophthalmia, cataract, mental retardation, vitamin d-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney.

62. Human Protein: Q504W7 - OCRL Protein. EMBL Bioinformatic Harvester Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dentdisease. SwissProt Information. SwissProt Accession No. http://harvester.embl.de/harvester/Q504/Q504W7.htm

Human protein: Q504W7 - OCRL protein. EMBL FORUM Length: 893 aa , molecular weight: 103180 Da , CRC64 checksum: SOURCE BLAST OMIM SMART ... GoTo: SOURCE @ Stanford University OCRL Oculocerebrorenal syndrome of Lowe UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases OCRL1 GENE oculocerebrorenal syndrome of Lowe Chromosomal Location Chromosome/Cytoband Microarray Gene Expression Data Data available Show Gene Expression Data LocusLink Information Locus Link Summary This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. SwissProt Information SwissProt Accession No. Inositol polyphosphate 5-phosphatase OCRL-1 (Homo sapiens) Function converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. may function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Disease defects in ocrl are the cause of lowe syndrome [mim:309000]; also known as lowe oculocerebrorenal syndrome. it is characterized by hydrophthalmia, cataract, mental retardation, vitamin d-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney.

63. Portal Toolkit Invalid Site URL oculocerebrorenal syndrome of Lowe (OCRL) is frequently complicated by infantile Cataracts and glaucoma in patients with oculocerebrorenal syndrome. http://www.co-ophthalmology.com/pt/re/coophth/fulltext.00055735-200410000-00014.

Sorry, the URL specified, http://www.co-ophthalmology.com:80/pt/re/coophth/fulltext.00055735-200410000-00014.htm , is invalid. To go to site for "TEST-Current Opinion in Ophthalmology" please click here http://www.co-ophthalmology.com To go to site for "Current Opinion in Ophthalmology" please click here http://www.co-ophthalmology.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

64. Get Entry 19339..19504,19759..19994,30444..30560,31621..31705, 32328..32455,33287..33398,33588..33712) /gene= OCRL /product= oculocerebrorenal syndrome of Lowe http://getentry.ddbj.nig.ac.jp/cgi-bin/get_entry.pl?AL022162

65. Retina International's Scientific Newsletter - Syndrome Loci Lowe oculocerebrorenal syndrome, OCRL, 309000, OCRL1, xl, Xq2526. DXS100- DXS553,Inborn error of inositol phosphate metabolism, (2) http://www.retina-international.org/sci-news/syndrom.htm

Disease Database Syndromes Recent update from: 08.03.04 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Cerebellar ataxia, ad, with retinal degeneration ADCAII, SCA7 ad Expanding translated CAG repeat Alagille Syndrome AGS ad Chinese boy - Interstitial deletion 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat Mother - 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13) Alström Syndrome ALMS ar Refsum Disease PAHX ar Refsum Disease ar Posterior Column Ataxia with Retinitis Pigmentosa ar Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness) DIDMOAD ar Vasculopathy, Retinal, With Cerebral Leukodystrophy HERNS, CRV, HRV ar Refsum Disease, infantile IRD ar Refsum Disease, infantile IRD ar Kearns-Sayre syndrome KS mt mitochondrial North Carolina Macular Dystrophy segregating with progressive sensorineural deafness ad Progressive sensorineural deafness present in all affecteds over age 40 Linkage to MCDR1 excluded Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration MRST ar Parents were at least first cousins Mohr-Tranebjaerg Syndrome MTS xl NARP syndrome mt mitochondrial Norrie disease ND NDP xl tel- DXS7 (L1.28) -MAOB- NDP- DXS426-cen

66. Genetic Disease Markers PAB10923, oculocerebrorenal syndrome of Lowe (OCRL) polyclonal antibody, NM_000276,100 µg, 275 €. PAB-10925, oculocerebrorenal syndrome of Lowe (OCRL) http://www.gentaur.com/genetic_disease_markers.htm

Europe tel+32 2 732 5688 fax+32 2 732 4414 info@genprice.com Av. de l' Armée 68 B-1040 Brussels BELGIUM France tel 01 43 25 01 50 9, rue Lagrange 75005 Paris Italy tel 02 36 00 65 93 fax 02 36 00 65 94 20135 Milano Cat. No. Product Name Accession Size Unit Price PAB-10464 Adenosine deaminase (ADA) polyclonal antibody 100 µg PAB-10561 ADP-ribosyltransferase (ADPRT) polyclonal antibody 100 µg PAB-10562 ADP-ribosyltransferase (ADPRT) polyclonal antibody 100 µg PAB-10280 ADP-ribosyltransferase polymerase-like 2 (ADPRTL2) polyclonal antibody 100 µl PAB-10467 ADP-ribosyltransferase-like 2 (ADPRTL2) polyclonal antibody 100 µg PAB-10413 amyloid beta (A4) protein-binding family B member 1 (APBB1, Fe65) polyclonal antibody 100 µg PAB-10620 amyloid beta (A4) protein-binding family B member 1 (APBB1, Fe65) polyclonal antibody 100 µg PAB-10414 Amyloid beta (A4) protein-binding family B member 2 (APBB2) polyclonal antibody 100 µg PAB-02438 aryl hydrocarbon receptor (AHR) polyclonal antibody 100 µg PAB-10473 aryl hydrocarbon receptor (AHR) polyclonal antibody 100 µg PAB-10474 aryl hydrocarbon receptor (AHR) polyclonal antibody 100 µg PAB-10487 aryl hydrocarbon receptor nuclear translocator (ARNT) polyclonal antibody 100 µg PAB-10485 aryl-hydrocarbon receptor nuclear translocator 2 (Arnt2) polyclonal antibody 100 µg PAB-10486 aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) polyclonal antibody 100 µg PAB-10488 Arylsulfatase E (ARSE) polyclonal antibody 100 µg

67. Entrez PubMed Lowe s oculocerebrorenal syndrome (OCRL) is a human Xlinked developmental disorderof unknown patho http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

68. Entrez PubMed The oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterizedby congenital http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

69. Associazione Italiana Sindrome Di Lowe in families with lowe oculocerebrorenal syndrome novel mutations in the Indo Y, Nakazato H, Shimadzu M, Matsuda I. oculocerebrorenal syndrome of http://aislo.negrisud.it/guida/referenze.html

. Home . Cos'è l'Aislo? . Notizie ed Eventi . Contatti ... . F.A.Q. Associazione Italiana Sindrome di Lowe "VIVERE CON LA SINDROME DI LOWE" Indietro Indice Prefazione Domande frequenti Introduzione Caratteristiche mediche Genetica Stato della Ricerca Sviluppo ed Istruzione Genitori e famiglie: vivere con la sindrome di Lowe Parole d'incoraggiamento L'Associazione Americana della Sindrome di Lowe Glossario Referenze Medico-Scientifiche REFERENZE MEDICO-SCIENTIFICHE Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000 Dec;58(6):479-82. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18;95(5):461-6. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22.

70. MR Findings In Oculocerebrorenal Syndrome -- Carroll Et Al. 14 (2): 449 -- Ameri oculocerebrorenal syndrome is an Xlinked recessive disorder characterized bycongenital We report a case of oculocerebrorenal syndrome and, using T1-, http://www.ajnr.org/cgi/content/abstract/14/2/449

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 Carroll, W. J. Articles by Cadman, T. E. ARTICLES MR findings in oculocerebrorenal syndrome WJ Carroll, WW Woodruff and TE Cadman Department of Radiology, Geisinger Medical Center, Danville, PA 17822. Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation, renal disease, and metabolic bone disease. We report a case of oculocerebrorenal syndrome and, using T1-, proton density-, and T2- weighted imaging sequences, are able to characterize two distinct white matter abnormalities: one lesion is punctate and has signal characteristics that parallel that of cerebrospinal fluid; a second lesion, found in association with the first, consists of

71. Genome.gov | Suchy Lab of Sharon Suchy s laboratory at the National Human Genome Research Institute.Research centers on understanding oculocerebrorenal syndrome of Lowe, OCRL. http://www.genome.gov/10000362

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Research Investigators Profiles, publications, links Clinical Research Clinical trials, patient recruitment, IRB FAQ , Overview NHGRI Affiliated Centers CIDR NCGC NISC Online Research Resources Developed at NHGRI Databases, software, tools, more. Division of Intramural Research Calendar Workshops, conferences, seminar series, courses, more. Books and Publications In Other Sections: Administrative Management Branch Intramural Training Office Office of Laboratory Animal Medicine Professional Development Office ... Genetic Disease Research Branch Suchy Lab Sharon F. Suchy, Ph.D. Associate Investigator Genetic Disease Research Branch B.S. College of William and Mary, 1978 Ph.D. Medical College of Virginia, 1984 suchy@mail.nih.gov Building 49, Room 4A66 49 Convent Drive, MSC 4472 Bethesda, MD 20892-4472

72. Genome.gov | Nussbaum Lab Lowe syndrome, formally known as Lowe oculocerebrorenal syndrome (OCRL), is arare Xchromosome-linked disorder that can cause mental retardation, seizures, http://www.genome.gov/10000360

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Research Investigators Profiles, publications, links Clinical Research Clinical trials, patient recruitment, IRB FAQ , Overview NHGRI Affiliated Centers CIDR NCGC NISC Online Research Resources Developed at NHGRI Databases, software, tools, more. Division of Intramural Research Calendar Workshops, conferences, seminar series, courses, more. Books and Publications In Other Sections: Administrative Management Branch Intramural Training Office Office of Laboratory Animal Medicine Professional Development Office ... Genetic Disease Research Branch Nussbaum Lab Robert L. Nussbaum, M.D. Senior Investigator and Chief Genetic Disease Research Branch Senior Investigator and Acting Chief Inherited Disease Research Branch Head Inborn Errors and Cell Biology Section A.B. Harvard College, 1971 M.D. Harvard Medical School, 1975 rlnuss@mail.nih.gov

73. OCRL Backpage 5phosphatase OCRL-1 (EC 3.1.3.36) (Lowe’s oculocerebrorenal syndrome protein) . ID 4952 Symbol OCRL Name oculocerebrorenal syndrome of Lowe http://www.genmapp.org/HTML_MAPPs/Human/Cellular_component/cytoplasmic_vesicle/_

OCRL SwissProt OCRL_HUMAN SwissProt Affy UniGene RefSeq ... GeneOntology SwissProt Top ID: Accession: Name: OCRL Species: Homo sapiens Protein: Inositol polyphosphate 5-phosphatase OCRL-1 (EC 3.1.3.36) (Lowe’s oculocerebrorenal syndrome protein). Functions: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Affy Top ID: Chip: HG-U133_Plus_2 ID: Chip: HG-U133_Plus_2 ID: Chip: HG-U95Av2 ID: Chip: HG-U95Av2 ID: Chip: HG-U95C ID: Chip: HuGeneFL UniGene Top ID: Hs.126357 Title: oculocerebrorenal syndrome of Lowe Gene: OCRL Cytoband: RefSeq Top ID: ID: ID: Definition: phosphatidylinositol polyphosphate 5-phosphatase isoform a [Homo sapiens]. ID: Definition: phosphatidylinositol polyphosphate 5-phosphotase isoform b [Homo sapiens]. LocusLink Top ID: Symbol: OCRL Name: oculocerebrorenal syndrome of Lowe InterPro Top ID: Name: RhoGAP domain ID: Name: Inositol polyphosphate related phosphatase ID: Name: Endonuclease/exonuclease/phosphatase ID: Name: Rho GTPase activation protein GeneOntology Top ID: Name: Golgi membrane ID: Name: phosphoinositide 5-phosphatase activity ID: Name: Golgi stack ID: Name: Golgi vesicle ID: Name: lipid metabolism ID: Name: hydrolase activity

74. Fanconi’s Syndrome Medical Reference - MedicineOnline.com Lowe s disease (oculocerebrorenal syndrome), a rare genetic disorder of theeyes, brain, and kidneys, can also cause Fanconi s syndrome. http://www.medicineonline.com/reference/Diseases_and_Conditions/Neurological_Dis

Medical References Health Topics Medical Dictionary Drug Information Index ... Providers Login Search for Containing Exact Match The web References [ DISEASES AND CONDITIONS ] Fanconi’s syndrome Diseases and Conditions Neurological Disorders Alzheimer's Disease > Fanconi’s syndrome Fanconi’s syndrome Sections >> Illustrations Alternative names Definition Causes, incidence, and risk factors ... Calling your health care provider Illustrations Kidney anatomy Alternative names De Toni-Fanconi syndrome Definition Fanconi''s syndrome is an impairment in the proximal tubular function of the kidney. This damage causes certain compounds which should be absorbed into the bloodstream by the kidneys to be excreted in the urine instead. Compounds that may be lost in the urine include glucose, amino acids, uric acid, and phosphate. Loss of these compounds can cause problems, such as growth failure, decreased bone mineralization (rickets), and abnormal bone mineralization (osteomalacia). Type 1 renal tubular acidosis (RTA) occurs when too much bicarbonate is excreted in the urine, causing excess acid in the blood (acidosis). Another problem that may result is dehydration caused by excess urination. Causes, incidence, and risk factors

75. Identical Twins With Hypercalcaemia Due To Lowe's Syndrome -- Hofbauer Et Al. 40 The oculocerebrorenal syndrome of Lowe. Adv Pediatr1990;3875–107. The Lowe soculocerebrorenal syndrome gene encodes a protein highly homologous to http://rheumatology.oxfordjournals.org/cgi/content/full/40/1/107

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Request Permissions PubMed PubMed Citation Articles by Hofbauer, L. C. Articles by Heufelder, A. E. Related Collections Other Rheumatology Rheumatology 2001; 40: 107-108 British Society for Rheumatology Letters to the Editor Identical twins with hypercalcaemia due to Lowe's syndrome L. C. Hofbauer C. Nies and A. E. Heufelder Division of Endocrinology and Department of Surgery, Philipps University, Marburg, Germany S IR , We describe the unusual diagnosis of Lowe's syndrome (oculocerebrorenal syndrome) in identical twins at age 46 yr, who were referred to our institution for evaluation of hypercalcaemia and bone pain.

76. 92?6? ?June 2003 Volume 15 Number 3 Lowe? ?Lowe(oculocerebrorenal syndrome of Lowe, We report onan 8year-old boy with oculocerebrorenal syndrome of Lowe (OCRL) involving http://www.tzuchi.com.tw/tcmj/92-3/9.htm

¤¤µØ¥Á°ê92¦~6¤ë ²Ä¤Q¤­¨÷ ²Ä¤T´Á June 2003 Volume 15 Number 3 ¤ý¬RÂ× ¿à¹ç¥Í1,3 Á§¬î¨k2 ºK­n öÁä»y¡G°©Àf±½´y¡ALowe¤ó¯g­Ô¸s¡A°©¥NÁ²§±` ¦¬¤å¤é´Á¡G91¦~10¤ë4¤é¡A­×§ï¤é´Á¡G91¦~11¤ë6¤é¡A±µ¨ü¤é´Á¡G91¦~12¤ë10¤é Bone Scintigraphic Findings in the Oculocerebrorenal Syndrome of LoweCase Report Yuh-Feng Wang, Ning-Sheng Lai1,3, Chiou-Nan Shine2 Department of Nuclear Medicine, Internal Medicine1, Pediatrics2, Buddhist Dalin Tzu Chi General Hospital, Chia Yi, Taiwan; Department of Internal Medicine3, Tzu Chi University, Hualien, Taiwan ABSTRACT We report on an 8-year-old boy with oculocerebrorenal syndrome of Lowe (OCRL) involving renal acidosis, hypotonia, congenital cataracts, and growth retardation. Bone scintigraphy was performed to evaluate the patient's skeletal system. The scintigraphic findings were as follows: (1) absence of radioactivity over the epiphyseal growth plates, (2) increased uptake in the skull and extremities, (3) non-visualization of both kidneys, and (4) widening of the bony shafts of the extremities. We suggest that bone scintigraphy can demonstrate both structural and metabolic bony abnormalities in OCRL. (Tzu Chi Med J 2003; 15:195-198) Key words: bone scintigraphy, Oculocerebrorenal syndrome of Lowe, metabolic bony abnormalities

77. Oculocerebrorenal Syndrome Prev Term ocular toxoplasmosis Next Term oculocerebrorenal syndrome of Lowe.oculocerebrorenal syndrome. Used for. cerebrooculorenal syndrome http://crisp.cit.nih.gov/Thesaurus/00005770.htm

Prev Term: ocular toxoplasmosis Next Term: oculocerebrorenal syndrome of Lowe oculocerebrorenal syndrome Used for: cerebrooculorenal syndrome Used for: Lowe syndrome Used for: oculocerebrorenal syndrome of Lowe Broader Terms: inborn renal tubular transport disorder Broader Terms: mental retardation Broader Terms: syndrome Related Terms: sex linked trait Scope Note: sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. Term Number: Send your comments to: Melody Lowe

78. Oculocerebrorenal Syndrome Of Lowe Prev Term oculocerebrorenal syndrome Next Term oculomotor. oculocerebrorenalsyndrome of Lowe. Use. oculocerebrorenal syndrome http://crisp.cit.nih.gov/Thesaurus/00010418.htm

Prev Term: oculocerebrorenal syndrome Next Term: oculomotor oculocerebrorenal syndrome of Lowe Use: oculocerebrorenal syndrome Send your comments to: Melody Lowe

79. Rarelink.net - Diagnoselisten Lowe Oculocerebrorenal Syndrome Du er her Hjem Diagnoselisten Lowe oculocerebrorenal syndrome Engelsk,Svensk, Dansk, Norsk. Lowe oculocerebrorenal syndrome; OCRL, Lowes syndrom http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=161

80. Rarelink.net - Diagnoselisten Lowe Oculocerebrorenal Syndrome (OCRL) Du er her Hjem Diagnoselisten Lowe oculocerebrorenal syndrome (OCRL) Lowe oculocerebrorenal syndrome; OCRL, Lowes syndrom http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=161&synonymId=603

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