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/otb/otb1996v15n1-EnzymeDiscovery.html
Extractions: Home Page On The Beam 1996 v.15:1 LSA Information About the LSA News Donations Membership ... LSA-Talk Lowe Syndrome What is Lowe Syndrome? FAQ Diagnosis Testing Labs ... Living with LS Booklet Conferences 2004 Plans Past Conferences Research Research Fund Current RFP Grants International French LSA UK Trust Australia Links 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
12398-cpr HUMMOLGEN DIAGnostics/Clinical Research November, 15 1998 Ataxia Telangiectasiaand Lowe oculocerebrorenal syndrome. I am seraching http://www.hum-molgen.de/clinical/151198-cpr1.html
Extractions: November, 15 1998 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
Extractions: Vesicle trafficking is a common locus of the origin or manifestation of many human pathologies. Although nerve terminals obviously rely heavily on the careful orchestration of vesicle trafficking steps to sustain and modulate neurotransmission, all cells must have correct targetting and delivery of specific proteins to the cell surface or internal organelles. The following is a list of either known or suspected diseases of vesicular traffic. Click on the disease to see the link (or potential link) to vesicle trafficking. Vesicle Trafficking Diseases Mad Cow Disease Atherosclerosis Type II Diabetes Alzheimer's Disease ... Oculocerebrorenal Syndrome
Health Library - Lowe Syndrome LS; OCRL; Oculocerebrorenal Dystrophy; oculocerebrorenal syndrome; RenalOculocerebrodystrophy.Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Lowe Sendromlu Bir Olgunun Davranis Fenotipine Yaklasim; Background. The Lowe syndrome or oculocerebrorenal syndrome is a rare X linkedrecessive hereditary diseases which involves ocular defects, nervous system http://www.ctf.istanbul.edu.tr/dergi/online/1998v29/s1/981o1.htm
Pap9814.html oculocerebrorenal syndrome of Lowe Variation in phenotype. Isabelle M. Russell-Eggitt,FRCOphth, William G. van't Hoff, MD, David SI Taylor, FRCP FRCOphth. http://med-aapos.bu.edu/AAPOS1999/post9957.html
Extractions: David S.I. Taylor, FRCP FRCOphth Introduction: Oculocerebrorenal syndrome of Lowe is a rare metabolic disorder first described in 1952. The defective gene is on the X chromosome. Children with Lowe syndrome commonly present to an ophthalmologist since all affected males have congenital cataracts and many develop glaucoma in childhood. However the diagnosis may not be made for several years. This is in part due to lack of awareness of the spectrum of presentation. Methods: We have reviewed the notes of 10 males with Lowe syndrome. We have details of the mutation in the gene OCRLI in 5 of these cases so far. Results: Age at diagnosis of the 6 patients born in the last 10 years varied from 4 weeks to 3 years I month (mean 13 months). One case born in 1963 was not diagnosed until he was 7 years old. Factors identified as contributing to a delay in diagnosis included: lack of opacities in maternal lenses, persistent hyaloid vessel (which was thought to make a metabolic disorder unlikely), presence of other possible causes for the hypotonia (such as perinatal asphyxia or maternal toxoplasmosis), lack of characteristic facies in infancy, arninoaciduria being absent on spot testing initially and early developmental milestones being considered to be 'too good for Lowe'.
Associazione Italiana Sindrome Di Lowe Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment infamilies with lowe oculocerebrorenal syndrome novel mutations in the OCRL1 http://aislo.negrisud.it/referenze.html
Extractions: 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. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb;48(2):179-90. Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent. 1999 Nov-Dec;21(7):425-8. Review.
Mental Retardation oculocerebrorenal syndrome Search PUBMED for oculocerebrorenal syndromeAll Review Therapy Diagnosis. Phenylketonuria 1 more specific http://www.ohsu.edu/cliniweb/C10/C10.496.html
Sex Chromosome Abnormalities oculocerebrorenal syndrome Search PUBMED for oculocerebrorenal syndromeAll Review Therapy Diagnosis. Orofaciodigital Syndromes http://www.ohsu.edu/cliniweb/C16/C16.131.280.748.html
THE LIGHTNING HYPERTEXT OF DISEASE. Packet No. 1 14934 SYNONYMS Lowe syndrome Lowe Bickel syndrome Lowe Terrey MacLachlansyndrome oculocerebrorenal syndrome Renaloculocerebrodystrophy key words http://www.pathinfo.com/cgi-bin/lh.cgi?tx=terrey
GM98: Chr.X anchor marker AFM150xf10. Also on G3 map, click for details, 306.65,P1.14, stSG1667, LOWE'S oculocerebrorenal syndrome .. Also on G3 http://www.ncbi.nlm.nih.gov/genemap98/map.cgi?BIN=617&MAP=GB4
Viewbook- Robert Nussbaum Lowe oculocerebrorenal syndrome (OCRL) The laboratory isolated the gene responsiblefor Lowe syndrome, a rare disorder, by positional cloning and demonstrated http://gpp.nih.gov/researchers/viewbook/Nussbaum_Robert.html
Extractions: Research Description: Genetic Approaches to Human Disease Dr. Nussbaum's laboratory works on determining the pathogenesis of various human genetic diseases. Lowe oculocerebrorenal syndrome (OCRL) The laboratory isolated the gene responsible for Lowe syndrome, a rare disorder, by positional cloning and demonstrated that the gene encoded an enzyme, a phosphatidylinositol 4,5 bisphosphate 5-phosphatase, that was deficient in fibroblasts from OCRL patients. The laboratory has shown the enzyme is located primarily in the Golgi complex, particularly the trans-Golgi network. Now we need to understand why a defect in this enzyme leads to the clinical signs seen in the syndrome. The work relies heavily on cell biological and mouse genetics approaches, including transgenic and "knock-out" methods.
166.111.30.65/AsMamDB/Hs/Fasta/AsHs878.fasta.txt AsHs878 mRNA1 gnl UG Hs S417617 Human fetal brain oculocerebrorenal syndrome (OCRL1)mRNA, complete cds /cds=(177,2882) /gb=U57627 /gi=1420919 /ug=Hs.278276 http://166.111.30.65/AsMamDB/Hs/Fasta/AsHs878.fasta.txt
