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Last Updated: 10/31/2025

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Found 30 publications

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes.

Journal: Molecular syndromology
Published: October 22, 2024

A conserved regulation of cell expansion underlies notochord mechanics, spine morphogenesis, and endochondral bone lengthening.

A conserved regulation of cell expansion underlies notochord mechanics, spine morphogenesis, and endochondral bone lengthening.

Journal: bioRxiv : the preprint server for biology
Published: August 30, 2024

Cell expansion for notochord mechanics and endochondral bone lengthening in zebrafish depends on the 5'-inositol phosphatase Inppl1a.

Cell expansion for notochord mechanics and endochondral bone lengthening in zebrafish depends on the 5'-inositol phosphatase Inppl1a.

Journal: Current biology : CB
Published: August 08, 2024

A Case of Opsismodysplasia with a Novel INPPL1 Variant.

A Case of Opsismodysplasia with a Novel INPPL1 Variant.

Journal: Molecular syndromology
Published: May 13, 2024

The Functional Roles of the Src Homology 2 Domain-Containing Inositol 5-Phosphatases SHIP1 and SHIP2 in the Pathogenesis of Human Diseases.

The Functional Roles of the Src Homology 2 Domain-Containing Inositol 5-Phosphatases SHIP1 and SHIP2 in the Pathogenesis of Human Diseases.

Journal: International journal of molecular sciences
Published: April 10, 2024

Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Journal: Clinical case reports
Published: December 22, 2020

Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.

Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.

Journal: Advances in biological regulation
Published: August 30, 2019

Altered chondrocyte differentiation, matrix mineralization and MEK-Erk1/2 signaling in an INPPL1 catalytic knock-out mouse model of opsismodysplasia.

Altered chondrocyte differentiation, matrix mineralization and MEK-Erk1/2 signaling in an INPPL1 catalytic knock-out mouse model of opsismodysplasia.

Journal: Advances in biological regulation
Published: May 16, 2019

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Journal: Human mutation
Published: May 09, 2017

SHIP2: Structure, Function and Inhibition.

SHIP2: Structure, Function and Inhibition.

Journal: Chembiochem : a European journal of chemical biology
Published: October 07, 2016

Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.

Novel compound heterozygous mutations in inositol polyphosphate phosphatase-like 1 in a family with severe opsismodysplasia.

Journal: Clinical dysmorphology
Published: May 28, 2016

INPPL1 gene mutations in opsismodysplasia.

INPPL1 gene mutations in opsismodysplasia.

Journal: Journal of human genetics
Published: December 30, 2015
Showing 1-12 of 30

Last Updated: 10/31/2025