Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2015

Laine Christine M, Wessman Maija, Toiviainen-Salo Sanna, Kaunisto Mari A, Mäyränpää Mervi K, Laine Tero, Pekkinen Minna, Kröger Heikki, Välimäki Ville-Valtteri, Välimäki Matti J, Lehesjoki Anna-Elina, Mäkitie Outi

Abstract excerpt

Genetic factors play an important role in the development of osteoporosis. Several monogenic forms of osteoporosis have been recognized, most recently an X-chromosomal form resulting from mutations in the gene encoding plastin 3 (PLS3). PLS3 is a protein involved in actin bundle formation in the cytoskeleton. We present a large family with early onset osteoporosis and X-linked inheritance. Phenotyping was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Glycoproteins

Share to Microfilament Proteins

Share to Osteoporosis

Share to Pedigree

Share to RNA Splicing

Share to Young Adult

Source

Identifiers

PMID: 25209159
DOI: 10.1002/jbmr.2355

Genes

PLS3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.PMID 25209159Read ↗

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

Identification of a novel splicing mutation and genotype-phenotype correlations in rare PLS3-related osteoporosisSemantic proximity Read ↗

PLS3 mutations in X-linked osteoporosis with fractures.Semantic proximity Read ↗

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

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.Semantic proximity Read ↗

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.Semantic proximity Read ↗

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

Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics.Semantic proximity Read ↗

Impaired bone strength and bone microstructure in a novel early-onset osteoporotic rat model with a clinically relevant PLS3 mutation.Semantic proximity Read ↗

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.Semantic proximity Read ↗

A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.Semantic proximity Read ↗

X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.