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This chapter is a revised version of the first Edition which aims to describe a method used to evaluate gene expression and microRNAs (miRNAs) in bone cells or bone tissue using Reverse transcription and quantitative Polymerase Chain Reaction (RT-qPCR), and methods to assess chromogenic in situ hybridization (CISH) on Formalin Fixed Paraffin Embedded (FFPE) mouse bone tissue to detect both DNA and mRNA transcripts using the double digoxigenin (DIG) locked nucleic acid (LNA™) probes or using RNAscope technology.
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http://dx.doi.org/10.1007/978-1-0716-4306-8_11 | DOI Listing |
Calcif Tissue Int
September 2025
FirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), 50141, Florence, Italy.
X-linked hypophosphatemia (XLH) is a rare and progressive disease, due to inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. These pathogenic variants result in elevated circulating levels of fibroblast growth factor 23 (FGF23), responsible for the main clinical manifestations of XLH, such as hypophosphatemia, skeletal deformities, and mineralization defects. However, XLH also involves muscular disorders (muscle weakness, pain, reduced muscle density, peak strength, and power).
View Article and Find Full Text PDFLife Sci
September 2025
Department of Pharmacology and Toxicology, Faculty of Pharmacy, Zagazig University, Zagazig, Egypt.
Proc Biol Sci
September 2025
Division of Integrative Anatomical Sciences, University of Southern California Keck School of Medicine, Los Angeles, CA, USA.
Red blood cell (RBC) size constrains the rate of diffusion of gases between (i) the environment and the capillary beds of the gas exchanger and (ii) the blood and organs. In birds, small RBCs with a high surface area to volume ratio permit a high O diffusion capacity and facilitate sustained, vigorous exercise. Unfortunately, our knowledge of archosaur cardiovascular evolution is incomplete without fossilized RBCs and blood vessels.
View Article and Find Full Text PDFBone
September 2025
Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Izumi, Osaka, 594-1101, Japan. Electronic address:
Hypophosphatasia (HPP) is caused by inactivating variants of ALPL, the gene encoding tissue non-specific alkaline phosphatase (TNSALP). In order to deepen our understanding of the pathogenic mechanisms of HPP, we herein generated ALPL-knockout (KO) human induced pluripotent stem (iPS) cells by applying CRISPR/Cas9-mediated gene deletion to an iPS clone derived from a healthy subject. We analyzed two ALPL-KO clones, one ALPL-hetero KO clone, and a control clone isogenic except for ALPL.
View Article and Find Full Text PDFHum Pathol
September 2025
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
We report 35 patients who had a leukemic phase of diffuse large B-cell lymphoma/high-grade B-cell lymphoma with MYC and BCL2 rearrangements, also known as double-hit lymphoma (DHL). There were 23 men and 12 women with a median age of 57 years (range, 29-82). Eight patients had an established DHL diagnosis and later developed a leukemic phase of disease and 27 presented with DHL and a leukemic phase of disease at initial diagnosis.
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