Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.R256*
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PLS3

NM_005032.7:p.R256*

Associated Papers

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.

Mancini M et al.

Calcified Tissue International, 2024

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

Costa A et al.

Calcified Tissue International, 2024

X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3.

Qiu C et al.

World Journal of Pediatrics : Wjp, 2022

Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related childhood-onset osteoporosis.

Wu Z et al.

Orphanet Journal of Rare Diseases, 2022

35752817 (PubMed )
Supplement: 13023_2022_2380_MOESM1_ESM.docx

Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis.

Loid P et al.

Frontiers in Endocrinology, 2022

A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.

Hu J et al.

Molecular Genetics & Genomic Medicine, 2020

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

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

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA.

Cao YJ et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2019

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."