Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.N446S
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PLS3

NM_005032.7:p.N446S

Associated Papers

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.

Costa A et al.

Calcified Tissue International, 2024

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

Petit F et al.

American Journal of Human Genetics, 2023

The actin-bundling protein, PLS3, is part of the mechanoresponsive machinery that regulates osteoblast mineralization.

Chin SM et al.

Frontiers in Cell and Developmental Biology, 2023

Structural mechanism for bidirectional actin cross-linking by T-plastin.

Mei L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Unique, Gender-Dependent Serum microRNA Profile in PLS3 Gene-Related Osteoporosis.

Mäkitie RE et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23.

Mäkitie RE et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling.

Schwebach CL et al.

Bone Research, 2020

PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology.

Mäkitie RE et al.

Frontiers in Endocrinology, 2020

Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss.

Schwebach CL et al.

Frontiers in Cell and Developmental Biology, 2020

A novel frameshift deletion in PLS3 causing severe primary osteoporosis.

Costantini A et al.

Journal of Human Genetics, 2018

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Kämpe AJ et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."