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Brachydactyly type E (BDE), shortened metacarpals, metatarsals, cone-shaped epiphyses, and short stature, is an autosomal-dominant condition that commonly occurs as a sole phenotype. Parathyroid hormone-like protein (PTHrP) has been shown to be responsible in all forms to date, either directly or in...
ORGANISM(S): Homo sapiens (Human) 
2024-02-15 | PXD045003 | Pride
Single cell analysis applied to study Pth1r related skull deformity
Nf2 orchestrates β-arrestin2-biased PTH1R signaling to safeguard skeletal integrity
CHD7 regulates osteogenic differentiation of human dental follicle cells via PTH1R signaling
We have employed single cell RNA sequencing approach using 10XGenomics scRNAseq to elucidate roles of Pth1r in skull development. Conditional knockout mice for Pth1r exhibited unambiguous craniomaxillofacial deformity. This analysis will help to understand the unique molecular mechanisms.
ORGANISM(S): Mus musculus 
2026-02-16 | GSE294215 | GEO
Precise spatiotemporal regulation of parathyroid hormone (PTH) and PTH-related peptide (PTHrP) signaling through the PTH1R is fundamental to skeletal development and metabolic bone remodeling, yet the intracellular mechanisms that fine-tune this signaling remain a central unanswered question. Here, ...
ORGANISM(S): Mus musculus 
2026-06-01 | GSE319151 | GEO
Chromodomain helicase DNA-binding protein 7 (CHD7) is an ATP-dependent chromatin remodeling enzyme, functioning as chromatin reader to conduct epigenetic modification. Its effect on osteogenic differentiation of human dental follicle cells (hDFCs) remains unclear. Here we show CHD7 expression increa...
ORGANISM(S): Homo sapiens 
2020-07-22 | GSE154822 | GEO
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