Extractions: UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases 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.
Extractions: UniGene LocusLink OMIM GenAtlas ... Genome Browser Aliases 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.
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.
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
Extractions: 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
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
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
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
Extractions: . Home Associazione Italiana 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 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.
Extractions: 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. 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
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
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
OCRL Backpage 5phosphatase OCRL-1 (EC 3.1.3.36) (Lowes oculocerebrorenal syndrome protein) . ID 4952 Symbol OCRL Name oculocerebrorenal syndrome of Lowe http://www.genmapp.org/HTML_MAPPs/Human/Cellular_component/cytoplasmic_vesicle/_
Extractions: 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. ID:
Fanconis 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
Extractions: Medical References Health Topics Medical Dictionary Drug Information Index ... Providers Login Search for Containing Exact Match The web References [ DISEASES AND CONDITIONS ] Fanconis syndrome Diseases and Conditions Neurological Disorders Alzheimer's Disease > Fanconis syndrome Fanconis syndrome Sections >> 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.
Extractions: 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
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
Extractions: 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)
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
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
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
