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Found 48 Websites with content related to this domain, It is result after search with search engine

OCRL Gene: MedlinePlus Genetics

Medlineplus.gov   DA: 15 PA: 20 MOZ Rank: 35

  • The OCRL gene provides instructions for making an enzyme that is present in cells throughout the body
  • This enzyme is part of a larger group of enzymes that modify fat (lipid) molecules known as membrane phospholipids
  • These molecules form the basic structure of cell membranes.

Laurens County Library Homepage — OCRL.ORG

Ocrl.org   DA: 12 PA: 9 MOZ Rank: 22

  • My Pines Account Search the Pines Catalog Glascock County
  • Homepage Summer Reading GC Events Online Resources Hours and Location Johnson County
  • Homepage JC Events Online Resources Hours and Location Laurens County

Long-term Renal Outcome In Children With OCRL Mutations

Ncbi.nlm.nih.gov   DA: 20 PA: 16 MOZ Rank: 38

  • BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD)
  • Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.

Oracle Corporation (ORCL) Stock Price, News, Quote

Finance.yahoo.com   DA: 17 PA: 12 MOZ Rank: 32

  • Oracle (ORCL) Gains But Lags Market: What You Should Know. Oracle (ORCL) closed at $89.45 in the latest trading session, marking a +0.11% move from the prior day

Lowe Syndrome (OCRL Single Gene Test) Fulgent Genetics

Fulgentgenetics.com   DA: 23 PA: 14 MOZ Rank: 41

  • This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Lowe Syndrome
  • Sequence variants and/or copy number variants (deletions/duplications) within the OCRL gen


Hud.gov   DA: 11 PA: 33 MOZ Rank: 49

attachment ii areas between floor and ceiling state msa name county name msa code msa sub county code limits-1 limits-2 limits-3 limits-4 ak non-metro aleutians west 99999 0 16 356500 456350 551650 685550

Home Page OC Public Libraries

Ocpl.org   DA: 12 PA: 12 MOZ Rank: 30

  • To Our Patrons and Community: OC Public Libraries are open for in-person services according to State and County guidelines
  • Service hours are Tuesday – Thursday, 11 a.m
  • and Friday - Saturday from 9 a.m
  • * Laguna Woods: Monday-Friday 10am-4:30pm.

Dr. Jonathan Eskenazi, MD – Los Angeles, CA Neurology

Doximity.com   DA: 16 PA: 25 MOZ Rank: 48

  • Jonathan Eskenazi is a well-rounded neurologist with depth training in clinical neurophysiology, neuro-stimulation for Parkinson Disease and Epilepsy and Management of Acute stroke
  • He is affiliated with Verity Medical Group and serves as Director of Neurology at Saint Vincent Medical Center
  • Eskenazi earned his medical degree at

OCRL Regulates Lysosome Positioning And MTORC1 Activity

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 41

  • OCRL mutations cause Lowe syndrome, but the role of OCRL in nutrient sensing is unknown
  • Here, we show that OCRL is localized to the centrosome by its ASH domain and that it recruits microtubule-anchoring factor SSX2IP to the centrosome, which is important in the formation of the microtubule-organizing center.

Anti-OCRL Antibody (ab125917) Abcam

Abcam.com   DA: 13 PA: 28 MOZ Rank: 50

  • Defects in OCRL are the cause of Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
  • It is an X-linked multisystem disorder affecting eyes, nervous system, and kidney
  • It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney.

A Role For OCRL In Glomerular Function And Disease

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 43

  • Background: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase
  • The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases.

OCRL OCRL Inositol Polyphosphate-5-phosphatase

Ncbi.nlm.nih.gov   DA: 20 PA: 16 MOZ Rank: 47

  • This gene encodes an inositol polyphosphate 5-phosphatase
  • This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane
  • This protein may also play a role in primary cilium formation
  • Mutations in this gene cause oculocerebrorenal syndrome of Lowe

OCRL Hereditary Ocular Diseases

Disorders.eyes.arizona.edu   DA: 26 PA: 32 MOZ Rank: 70

  • The mutation causing this X-linked disorder is in the OCRL gene located at Xq26.1
  • New mutations have been found among nearly one-third of affected males
  • Another X-linked disorder with similar but less severe kidney disease, Dent disease 2 (), has been found to have mutations in the same gene
  • However, none of the ocular features are present.

About The Office Of The Chaplains And Religious Life

Brown.edu   DA: 13 PA: 43 MOZ Rank: 69

OCRL seeks to create spaces and opportunities within the immediate environs of the University and in its larger circles where such questions can be voiced and explored openly, whether these concerns originate within religious, philosophical, ethical, or spiritual practice.

A Role Of The Lowe Syndrome Protein OCRL In Early Steps Of

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 47

  • Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, whose manifestations include mental retardation and renal Fanconi syndrome
  • OCRL has been implicated in membrane trafficking, but disease mechanisms remain unclear
  • We show that OCRL visits late-stage, endocytic clathrin …

The Office Of The Chaplains And Religious Life

Brown.edu   DA: 13 PA: 38 MOZ Rank: 66

  • 401.863.2344 (OCRL Office) Christina Germak Campus Minister, Brown-RISD Catholic Community [email protected] 401-863-3314
  • Jermaine Pearson Associate Chaplain of the University for the Protestant Community
  • Biography [email protected] 401-863-2455
  • Office hours: Mondays from 1 to 5 p.m

OCRL Controls Trafficking Through Early Endosomes Via

Embopress.org   DA: 17 PA: 32 MOZ Rank: 65

  • Mutations in OCRL, which encodes a phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P 2) 5-phosphatase, result in oculo-cerebro-renal syndrome of Lowe (Lowe syndrome).This is a severe disease that is characterised by congenital cataracts, central hypotonia, and renal proximal tubular dysfunction, with low molecular weight (LMW) proteinuria and acidosis (Lowe et al, 1952; Attree et

Anti-OCRL Antibodies Invitrogen

Thermofisher.com   DA: 20 PA: 29 MOZ Rank: 66

  • OCRL is a rare X-linked disorder that is characterized in part by congenital cataracts, mental retardation, muscular hypotonia and renal tubular dysfunction
  • OCRL1 has a high affinity for phosphatidylinositol 4,5-bisphosphate as well as inositol 1,4,5-trisphosphate and inositol 1,3,4,5-tetrakisphosphate as substrates.

Recognition Of The F&H Motif By The Lowe Syndrome Protein OCRL

Nature.com   DA: 14 PA: 19 MOZ Rank: 51

  • The protein OCRL is linked to Lowe syndrome and Dent disease, two related diseases
  • Mutations in the OCRL Ash-RhoGAP domain abolish its interactions …

OCRL Gene Analysis In Lowe Syndrome (Oculocerebrorenal

Genedx.com   DA: 14 PA: 33 MOZ Rank: 66

  • OCRL gene sequence analysis is necessary for carrier testing
  • The incidence of Lowe syndrome is approximately 1 in 1,000,000 worldwide
  • The OCRL gene is located on the X chromosome Xq26.1 and has 24 exons
  • TEST METHODS Using genomic DNA extracted from the submitted specimen, the complete coding regions and splice site junctions

An Atypical Dent’s Disease Phenotype Caused By Co

Nature.com   DA: 14 PA: 21 MOZ Rank: 55

  • Dent’s disease is an X-linked renal tubulopathy caused by mutations mainly affecting the CLCN5 gene
  • Defects in the OCRL gene, which is usually mutated in patients with Lowe syndrome, have been

Security Content Automation Protocol CSRC

Csrc.nist.gov   DA: 13 PA: 50 MOZ Rank: 84

  • An OCRL Definition could be written to provide a report of all the services running on the computer, which could then be used by a person to determine whether any unwanted services are present
  • OCRL was specifically designed to work with the XCCDF and OVAL benchmark authoring languages.

Library Details: Laurens County Library

Gapines.org   DA: 11 PA: 27 MOZ Rank: 60

  • Email address: [email protected]ocrl.org
  • Library Card Number or User Name Password Apply for a PINES Library Card
  • Forgot Your Password? Keep me logged in
  • Learn More About PINES; How to Use the PINES Catalog

Novel Pathogenic OCRL Mutations And Genotype–phenotype

Bmcmedgenomics.biomedcentral.com   DA: 32 PA: 36 MOZ Rank: 91

  • Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubulopathy
  • This condition is caused by a mutation of OCRL gene (located at chromosome Xq26.1), which encodes an inositol polyphosphate 5-phosphatase
  • We identified two novel OCRL mutations in two unrelated Chinese boys, each with a severe phenotype of Lowe

OCRL Antibody (S166A-26) (NBP2-42193): Novus Biologicals

Novusbio.com   DA: 16 PA: 43 MOZ Rank: 83

  • OCRL Antibody (S166A-26) Summary
  • Fusion protein amino acids 1-901 (full-length) of human INPP5F
  • Rat: 93% identity (845/904 amino acids identical)
  • Mouse: 91% identity (824/901 amino acids identical) ~50% identity with INPP5b

OCRL ClinGen Genome Dosage Map

Dosage.clinicalgenome.org   DA: 25 PA: 17 MOZ Rank: 67

  • (2011) A French cohort study identified a OCRL gene variant in 130 Lowe syndrome families and 6 families affected by Dent-2 disease
  • 51 of the identified variants were novel
  • No founding effect was evidenced for recurrent mutations
  • Among them were 2 partial gene deletions, 7 nonsense, 9 splicing and 12 frame shift variants.

Anti-OCRL Antibody (C-2) SCBT

Scbt.com   DA: 12 PA: 20 MOZ Rank: 58

  • Anti-OCRL Antibody (C-2) is a mouse monoclonal IgG 1 κ OCRL antibody, cited in 2 publications, provided at 200 µg/ml
  • raised against amino acids 1-240 mapping at the N-terminus of OCRL of human origin
  • OCRL Antibody (C-2) is recommended for detection of OCRL of mouse, rat, human origin by WB, IP, IF …

Compensatory Role Of Inositol 5-Phosphatase INPP5B To OCRL

Journals.plos.org   DA: 17 PA: 16 MOZ Rank: 60

  • Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking
  • Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents with congenital cataracts, glaucoma, renal dysfunction and mental retardation
  • INPP5B is a paralog of OCRL and shares similar structural domains.

Two Closely Related Endocytic Proteins That Share A Common

Pnas.org   DA: 12 PA: 19 MOZ Rank: 59

  • C-Terminal Region of Ses Binds the ASH-RhoGAP-Like Domain of OCRL
  • APPL1 is a protein that is unique to the vertebrate lineage
  • Because of the strong level of evolutionary conservation between the ASH-RhoGAP–like modules of invertebrate and vertebrate OCRL (), including the conservation of those amino acids whose mutations are responsible for Lowe syndrome (29 –31, 36 –38, and this paper


Omim.org   DA: 12 PA: 24 MOZ Rank: 65

  • - Caused by mutation in the OCRL inositol polyphosphate-5-phosphatase gene (OCRL1, 300535.0001) Contributors: Kelly A
  • Przylepa - revised : 10/24/2002

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