The oculocerebrorenal syndrome of Lowe: an update (Q28075516)

oculocerebrorenal syndrome

main subject

5 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

6 July 2020

Arend Bökenkamp

1

1 reference

Michael Ludwig

series ordinal

2

1 reference

language of work or name

1 reference

December 2016

1 reference

1 December 2016

5 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

6 July 2020

7 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

29 May 2020

6 July 2020

31

1 reference

page(s)

2201-2212

1 reference

issue

12

1 reference

Creative Commons Attribution 4.0 International

copyright license

6 references

7 March 2019

24 March 2019

22 April 2019

25 April 2019

29 May 2020

on focus list of Wikimedia project

6 July 2020

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00467-016-3343-3

0 references

cites work

The cellular and physiological functions of the Lowe syndrome protein OCRL1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Differential clathrin binding and subcellular localization of OCRL1 splice isoforms

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

New equations to estimate GFR in children with CKD

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Dent Disease with mutations in OCRL1

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Responsiveness of hypercalciuria to thiazide in Dent's disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

OCRL1 mutations in patients with Dent disease phenotype in Japan

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Novel OCRL mutations in patients with Dent-2 disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Rituximab in Children with Steroid-Dependent Nephrotic Syndrome: A Multicenter, Open-Label, Noninferiority, Randomized Controlled Trial

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Phosphoinositides in endocytosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Differential uptake of Tc-99m DMSA and Tc-99m EC in renal tubular disorders: Report of two cases and review of the literature.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

RhoGTPase-binding proteins, the exocyst complex and polarized vesicle trafficking

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Phosphatidylinositol 4-kinases and PI4P metabolism in the nervous system: roles in psychiatric and neurological diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Improved equations estimating GFR in children with chronic kidney disease using an immunonephelometric determination of cystatin C

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Multiple epidermal cysts in lowe syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Dent-2 disease: a mild variant of Lowe syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Oculocerebrorenal Lowe syndrome: a literature review and two case reports

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Cataracts and glaucoma in patients with oculocerebrorenal syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Oculo-cerebro-renal syndrome. A review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

The oculocerebrorenal syndrome of Lowe

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Mechanisms of glomerular albumin filtration and tubular reabsorption

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Pathogenesis of cataracts in patients with Lowe's syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

MRI findings and peripheral neuropathy in Lowe's syndrome.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Congenital fiber type disproportion myopathy in Lowe syndrome.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

2 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Glaucoma with the oculocerebrorenal syndrome of Lowe

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

[Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Muscle involvement in Dent disease 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Tigroid pattern on magnetic resonance imaging in Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Lowe syndrome: proton mr spectroscopy, and diffusion mr imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Early proximal tubular dysfunction in Lowe's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Renal manifestations of Dent disease and Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Decreased renal uptake of (99m)Tc-DMSA in patients with tubular proteinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Clinical and laboratory features of Macedonian children with OCRL mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Cystatin C--a new marker of glomerular filtration rate in children independent of age and height.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Generation of a new cystatin C-based estimating equation for glomerular filtration rate by use of 7 assays standardized to the international calibrator.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Orthodontic treatment of a patient with Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Eruptive vellus hair cysts in a patient with Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-016-3343-3

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5118406

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

27 November 2018

1 reference

12 December 2020

Arthropathy of Lowe's (oculocerebrorenal) syndrome

1 reference

12 December 2020

End-stage renal failure in Lowe syndrome

1 reference

12 December 2020

Poor renal accumulation of 99mTc-DMSA in idiopathic tubular proteinuria

1 reference

12 December 2020

Progressive morphologic renal changes in the oculo-cerebro-renal syndrome of Lowe

1 reference

12 December 2020

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases

1 reference

12 December 2020

Focal segmental glomerulosclerosis in a boy with Dent-2 disease

1 reference

12 December 2020

Hypercalciuria in patients with CLCN5 mutations

1 reference

12 December 2020

Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

1 reference

12 December 2020

Prenatal detection of congenital cataract in a fetus with Lowe syndrome

1 reference

12 December 2020

Poor renal uptake of Tc-99m DMSA and Tc-99m MDP in a patient with Fanconi syndrome and near normal glomerular filtration rate

1 reference

12 December 2020

Antenatal diagnosis of Lowe syndrome

1 reference

12 December 2020

Tenosynovitis in Lowe syndrome

1 reference

12 December 2020

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

1 reference

12 December 2020

Molecular confirmation of carriers for Lowe syndrome

1 reference

12 December 2020

Two cases of Lowe syndrome presenting as increased fetal nuchal translucency

1 reference

12 December 2020

Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis

1 reference

12 December 2020

Corneal keloid in Lowe's syndrome

1 reference

12 December 2020

First report of prenatal biochemical diagnosis of Lowe syndrome

1 reference

12 December 2020

[Anatomical verifications in a child with Lowe's syndrome.]

1 reference

12 December 2020

10.1007/S00467-016-3343-3

Identifiers

DOI

1 reference

Dimensions Publication ID

2595059

1025489046

0 references

2595059

1 reference

1 reference

1 reference