Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells (Q57193586)

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scholarly article by Jesse Barnes published in January 2018

Language	Label	Description	Also known as
English	Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells	scholarly article by Jesse Barnes published in January 2018

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scholarly article

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Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells (English)

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molecular biology

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author name string

Jesse Barnes

1

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Franklin Salas

2

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Ryan Mokhtari

3

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Hedwig Dolstra

4

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Erika Pedrosa

5

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Herbert M Lachman

6

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language of work or name

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publication date

2018

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Molecular Autism

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9

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1

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44

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describes a project that uses

induced pluripotent stem cell

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based on heuristic

inferred from title

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6094927/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Impaired neural development in a zebrafish model for Lowe syndrome

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2 November 2018

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

1 reference

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2 November 2018

Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome

1 reference

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2 November 2018

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

1 reference

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2 November 2018

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

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2 November 2018

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

1 reference

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2 November 2018

Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms

1 reference

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2 November 2018

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

1 reference

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30 November 2018

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/30147856

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/30147856

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/S13229-018-0227-3

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