The cellular and genetic mechanisms that coordinate formation of facial sensory structures with surrounding skeletal and soft tissue elements remain poorly understood. Alx1, a homeobox transcription factor, is a key regulator of midfacial morphogenesis. ALX1 mutations in humans are linked to severe congenital anomalies of the facial skeleton (frontonasal dysplasia, FND) with malformation or absence of eyes and orbital contents (micro- and anophthalmia).
View Article and Find Full Text PDFA pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of the transcription factor ALX1 which was imputed to be pathogenic.
View Article and Find Full Text PDFHuman osteoarthritic chondrocytes (hOACs) are characterized by their "dedifferentiated" and catabolic phenotype and lack the ability for restoring their inherent functions by themselves. Here we investigated whether extrinsically supplemented mechanical signal via compression loading would affect the phenotype of hOACs. Specifically, we applied cyclic compression loading on cultured hOACs-collagen constructs and measured the expression of the major chondrogenic factors, cell-matrix interaction molecules and matrix degradation enzymes.
View Article and Find Full Text PDFThere is a growing trend for researchers to use in vitro 3D models in cancer studies, as they can better recapitulate the complex in vivo situation. And the fact that the progression and development of tumor are closely associated to its stromal microenvironment has been increasingly recognized. The establishment of such tumor supportive niche is vital in understanding tumor progress and metastasis.
View Article and Find Full Text PDFIntroduction And Objectives: Some patients cannot perform forced vital capacity (FVC). We conducted a study to answer three questions: Can the ability to perform components of spirometry be predicted by the Mini Mental State Examination (MMSE)? What proportion of subjects can perform forced expiratory volume in 3 s (FEV3) but not FVC? Does the forced expiratory volume in 1 s (FEV1)/FEV3 ratio concord with FEV1/FVC ratio in patients with airflow obstruction?
Methods: We conducted a prospective observational study of 267 patients with a mean age of 79 years, including subjects with indicators of frailty. They performed spirometry and the MMSE.