Lowe Syndrome Latest Advances

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Journal: bioRxiv : the preprint server for biology

Published: November 18, 2024

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 23, 2024

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.

Journal: Biomolecules

Published: May 29, 2024

A female patient with Dent disease due to skewed X-chromosome inactivation.

Journal: Clinical kidney journal

Published: February 12, 2024

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Journal: Prenatal diagnosis

Published: February 12, 2024

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.

Journal: Human molecular genetics

Published: December 18, 2023

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Journal: Pediatric nephrology (Berlin, Germany)

Published: June 23, 2023

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.

Journal: Children (Basel, Switzerland)

Published: June 12, 2023

Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma.

Journal: Ophthalmology. Glaucoma

Published: April 18, 2023

A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease.

Journal: Cell communication and signaling : CCS

Published: April 03, 2023

Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane.

Journal: The Journal of biological chemistry

Published: March 28, 2023

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.

Journal: The American journal of case reports

Published: March 24, 2023

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Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Defective Neurogenesis in Lowe Syndrome is Caused by Mitochondria Loss and Cilia-related Sonic Hedgehog Defects.

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.

Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses.

A female patient with Dent disease due to skewed X-chromosome inactivation.

A female patient with Dent disease due to skewed X-chromosome inactivation.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome.

Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma.

Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma.

A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease.

A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease.

Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane.

Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane.

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.

Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.