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Upregulation of BMP1 through ncRNAs correlates with adverse outcomes and immune infiltration in clear cell renal cell carcinoma
BackgroundRenal cell carcinoma (RCC) accounts for approximately 2–3% of all adult malignancies. Clear cell renal cell carcinoma (ccRCC), which...
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Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype
Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. BMP1 variants have been reported in the rare...
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Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1+/− mouse model of craniosynostosis
Background and objectiveThe pathogenesis of coronal suture craniosynostosis is often attributed to the dysregulated cellular dynamics, particularly...
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The inhibition of bone morphogenetic protein 1 attenuates endometriosis lesions in vivo and in vitro
PurposeTo investigate the potential role of Bone morphogenetic protein 1 (BMP1) in endometriosis lesions.
MethodsEndometriosis model in mice was...
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Single-cell and genome-wide Mendelian randomization identifies causative genes for gout
BackgroundGout is a prevalent manifestation of metabolic osteoarthritis induced by elevated blood uric acid levels. The purpose of this study was to...
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Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients
BackgroundScoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting...
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Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous...
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Biphenotypic sinonasal sarcoma diagnosed by detection of PAX3-MAML3 fusion gene using integrated whole-genome and transcriptome sequencing
Biphenotypic sinonasal sarcoma (BSNS) is a double-phenotype sarcoma that shows differentiation in both the nervous and muscular systems. To date,...
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Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis
SummaryNearly 10% of subjects with severe idiopathic osteoporosis present pathogenic WNT1 mutations. Clinical characteristics include a family...
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The integrated comprehension of lncRNA HOXA-AS3 implication on human diseases
Long non-coding RNA (lncRNA) is a non-protein-coding RNA with a length of more than 200 nucleotides. Studies have shown that lncRNAs have vital...
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Identification and pathogenicity of hepatitis E Virus from laboratory Bama miniature pigs
BackgroundHepatitis E virus (HEV) genotypes 3 and 4 are zoonotic. In this study, HEV infection in laboratory Bama miniature pigs in Sichuan Province...
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Periostin splice variants affect craniofacial growth by influencing chondrocyte hypertrophy
IntroductionPeriostin, an extracellular matrix protein, plays an important role in osteogenesis and is also known to activate several signals that...
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Pathways Controlling Formation and Maintenance of the Osteocyte Dendrite Network
Purpose of ReviewThe purpose of this review is to discuss the molecular mechanisms involved in osteocyte dendrite formation, summarize the...
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Systemic inflammatory proteins in offspring following maternal probiotic supplementation for atopic dermatitis prevention
BackgroundMaternal probiotic supplementation has a promising effect on atopic dermatitis (AD) prevention in infancy. In the randomised controlled...
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Genotype–phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta
PurposeTo evaluate the genotypic and phenotypic relationship in a large cohort of OI patients and to compare the differences between eastern and...
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Mouse Knockout Models for Pelvic Organ Prolapse: a Systematic Review
Introduction and hypothesisMouse knockout (KO) models of pelvic organ prolapse (POP) have contributed mechanistic evidence for the role of connective...
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Radiologically supervised bowel management program outcome in patients with chronic idiopathic constipation
PurposeThis study aimed to analyze our radiologically supervised bowel management program (RS-BMP) outcomes in patients with chronic idiopathic...
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Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations
BackgroundOsteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological...
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Correlation of lipocalin 2 and glycolipid metabolism and body composition in a large cohort of children with osteogenesis imperfecta
PurposeLipocalin 2 (LCN2) is a newly recognized bone-derived factor that is important in regulation of energy metabolism. We investigated the...
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Transcriptomic profiling of reward and sensory brain areas in perinatal fentanyl exposed juvenile mice
Use of the synthetic opioid fentanyl increased ~300% in the last decade, including among women of reproductive ages. Adverse neonatal outcomes and...
