New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications

Oliveira, João Ricardo Mendes de

doi:10.1007/s12031-016-0778-8

Cited by 3 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Phenotypic data of the Slc20a2 knockout mouse appears to correlate well with the loss of functions found in PFBC patients. This homozygous knockout model shows a variety of symptoms including general growth impairment, kyphosis, cataract and decreased bone mineral density, of which the latter two were also present in our proband.…”

Section: Discussionsupporting

confidence: 51%

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

Lamquet

Ramos²,

Legati³

et al. 2019

Ann Clin Transl Neurol

View full text Add to dashboard Cite

A 60‐year‐old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC20A2 gene revealed a missense mutation (c.541C>T, p.(Arg181Trp)), in silico predicted to be deleterious and not found in available databases. Segregation analysis confirmed his asymptomatic father to harbor the same mutation, though on brain imaging basal ganglia calcifications were found. This report illustrates the intrafamilial variability of the phenotype and generalized myoclonus as the presenting symptom.

show abstract

Section: Discussionsupporting

confidence: 51%

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

Lamquet

Ramos²,

Legati³

et al. 2019

Ann Clin Transl Neurol

View full text Add to dashboard Cite

show abstract

“…60 Although functional studies have not inves-tigated the role of Slc20a2 in bone biology, a recent study has suggested decreased bone mineral density and content in Slc20a2 knockout mice. 61 nHAp Induced Changes in Gene Expression Require Fgf Receptor Signaling. The full downstream gene regulatory response to nHAp was also found to require a second membrane event, Fgf receptor signaling.…”

Section: ■ Discussionmentioning

confidence: 98%

“…A recent study investigating the effects of calcium-phosphate mineralized matrix on osteogenesis of human mesenchymal stem cells identified the requirement of Slc20a1 for the promotion of osteogenic differentiation . Although functional studies have not investigated the role of Slc20a2 in bone biology, a recent study has suggested decreased bone mineral density and content in Slc20a2 knockout mice …”

Section: Discussionmentioning

confidence: 99%

Nano-Hydroxyapatite Stimulation of Gene Expression Requires Fgf Receptor, Phosphate Transporter, and Erk1/2 Signaling

Park

Habib

et al. 2017

ACS Appl. Mater. Interfaces

View full text Add to dashboard Cite

Hydroxyapatite (HAp) is critical to health both as the main structural material of the skeleton and storage material of calcium and phosphate. Nanosized HAp (nHAp) is naturally produced by mineralizing cells during bone formation and remodeling and is the main constituent of the skeleton. As such, HAp is currently being investigated as a therapeutic biomaterial for orthopedic and dental purposes. Recent studies have suggested that extracellular nHAp can influence osteoblast lineage commitment and cell function through changes in gene expression; however, the mechanisms remain to be elucidated. Here, the cellular and molecular mechanism by which rod-shaped nHAp (10 × 100 nm) stimulates gene expression in preosteoblast bone marrow stromal cells was investigated. Electron microscopy detected a rapid and stable interaction of nHAp with the cell membrane, which correlated with a strong stimulation of the Erk1/2 signaling pathway. Results also identified the requirement of the Fgf receptor signaling and phosphate-transporters for nHAp regulated gene expression whereas a calcium-sensing receptor inhibitor had no effect. Collectively, the study uncovers novel signaling pathways and cellular events specifically stimulated by and required for the cellular response to free extracellular HAp. The results provide insight into the osteoblastic response to HAp relevant to functional mineralization and pathological calcification and could be used in the development of biomaterials for orthopedic purposes.

show abstract

More than meets the eye: Searching for additional findings in primary brain calcification

Ferreira

Borges-Medeiros

Oliveira

2017

Journal of the Neurological Sciences

View full text Add to dashboard Cite

New Studies on Knockout Mouse for the SLC20A2 Gene Show Much More Than Brain Calcifications

Cited by 3 publications

References 10 publications

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

Nano-Hydroxyapatite Stimulation of Gene Expression Requires Fgf Receptor, Phosphate Transporter, and Erk1/2 Signaling

More than meets the eye: Searching for additional findings in primary brain calcification

Contact Info

Product

Resources

About