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

The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans.

Calcified tissue international - 1 Dec 2009

Dheedene Annelies, Deleye Steven, Hellemans Jan, Staelens Steven, Vandenberghe Stefaan, Mortier Geert

Abstract excerpt

Osteopoikilosis and the Buschke-Ollendorff syndrome are skeletal dysplasias with hyperostotic lesions in the long bones. These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene. LEMD3 codes for a protein of the inner nuclear membrane that, through interaction with...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Disease Models, Animal
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Membrane Proteins

Share to Mutation

Share to Nuclear Proteins

Source

Identifiers

PMID: 19862465
DOI: 10.1007/s00223-009-9305-z

Genes

LEMD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19862465-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans.PMID 19862465Read ↗

A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.Semantic proximity Read ↗

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.Semantic proximity Read ↗

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.Semantic proximity Read ↗

Deactivating Germline Mutations in <i>LEMD3</i> Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic MelorheostosisSemantic proximity Read ↗

Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.Semantic proximity Read ↗

Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.Semantic proximity Read ↗

LEMD3: the gene responsible for bone density disorders (osteopoikilosis).Semantic proximity Read ↗

Matrilin-3 Is Dispensable for Mouse Skeletal Growth and DevelopmentSemantic proximity Read ↗

Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1.Semantic proximity Read ↗

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.Semantic proximity Read ↗

Morc3 mutant mice exhibit reduced cortical area and thickness, accompanied by altered haematopoietic stem cells niche and bone cell differentiation.Semantic proximity Read ↗

Human pluripotent stem cell model of multiple epiphyseal dysplasia with <i>MATN3</i> mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathwaySemantic proximity Read ↗

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