(Q28591720)

English

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

scientific journal article

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scholarly article

1 reference

31 January 2017

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice (English)

1 reference

31 January 2017

OCRL, inositol polyphosphate-5-phosphatase

1 reference

GOA release 2020-03-11

author name string

P. A. Jänne

1

1 reference

31 January 2017

S. F. Suchy

2

1 reference

31 January 2017

D. Bernard

3

1 reference

31 January 2017

M. MacDonald

4

1 reference

31 January 2017

J. Crawley

5

1 reference

31 January 2017

A. Grinberg

6

1 reference

31 January 2017

A. Wynshaw-Boris

7

1 reference

31 January 2017

H. Westphal

8

1 reference

31 January 2017

R. L. Nussbaum

9

1 reference

31 January 2017

language of work or name

0 references

publication date

15 May 1998

1 reference

31 January 2017

Journal of Clinical Investigation

1 reference

31 January 2017

101

1 reference

31 January 2017

2042–2053

1 reference

31 January 2017

10

1 reference

31 January 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Altering the genome by homologous recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Cloning and expression of human 75-kDa inositol polyphosphate-5-phosphatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

17 March 2017

Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

7 April 2017

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Tissue distribution and intracellular localisation of the 75-kDa inositol polyphosphate 5-phosphatase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Animal models of human genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

The oculocerebrorenal syndrome of Lowe.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Identification and isolation of a 75-kDa inositol polyphosphate-5-phosphatase from human platelets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

The oculocerebrorenal syndrome of Lowe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

29 September 2017

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

3 June 2018

Positive-negative selection gene targeting with the diphtheria toxin A-chain gene in mouse embryonic stem cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

27 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508792

27 November 2018

Identification and characterization of the phosphatidylinositol-(4, 5)-bisphosphate 5-phosphatase in human platelets

1 reference

https://pubmed.ncbi.nlm.nih.gov/9593760

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI2414

1 reference

31 January 2017

release_wdlrszx4gbdszkbqa2ar4fk2tm

1 reference

https://api.fatcat.wiki/v0/release/wdlrszx4gbdszkbqa2ar4fk2tm

24 November 2022

based on heuristic

mapped directly with Wikidata item

0 references

1 reference

31 January 2017

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