198,824 results match your criteria human skeletal

Loss of Function of Lysosomal Acid Lipase (LAL) Profoundly Impacts Osteoblastogenesis and Increases Fracture Risk in Humans.

Bone 2021 Apr 7:115946. Epub 2021 Apr 7.

Maine Medical Center Research Institute, 81 Research Drive, Scarborough, Maine, USA, 04074; Center for Bone Biology, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232; USA; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232; USA. Electronic address:

Lysosomal acid lipase (LAL) is essential for cholesteryl ester (CE) and triacylglycerol (TAG) hydrolysis in lysosomes. Clinically, an autosomal recessive LIPA mutation causes LAL deficiency (LAL-D), either Wolman Disease or Cholesterol Ester Storage Disease (CESD). LAL-D is associated with ectopic neutral lipid accumulation in the liver, small intestine, spleen, adrenal glands, and blood. Read More

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Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.

Am J Med Genet A 2021 Apr 10. Epub 2021 Apr 10.

Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Read More

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Bioengineered3D model of myotonic dystrophy type 1 human skeletal muscle.

Biofabrication 2021 Apr 9. Epub 2021 Apr 9.

Biosensors for Bioengineering, IBEC, c/ Baldiri Reixac 10-12, Parc Científic de Barcelona (PCB), Edifici Clúster, Barcelona, Barcelona, E08028, SPAIN.

Myotonic dystrophy type 1 (DM1) is the most common hereditary myopathy in the adult population. The disease is characterized by progressive skeletal muscle degeneration that produces severe disability. At present, there is still no effective treatment for DM1 patients, but the breakthroughs in understanding the molecular pathogenic mechanisms in DM1 have allowed the testing of new therapeutic strategies. Read More

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A predictive model of "favorable" and "unfavorable" anteroposterior skeletal relations among Class Is and Class IIs.

Angle Orthod 2021 Apr 9. Epub 2021 Apr 9.

Objectives: To validate the use of the sagittal distance between ANS and Pg (ANSPg) as a measure of favorable and unfavorable anteroposterior skeletal relations and to identify multivariate cephalometric measures that could be used to predict favorable and unfavorable relations at 15 years of age.

Materials And Methods: This longitudinal study included 226 untreated adolescents evaluated at 10 and 15 years of age. Patients were grouped as "favorable" or "unfavorable" based on the ANSPg (measured parallel to S-N -7°) at 15 years of age (ANSPg15). Read More

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Selenium, Selenoproteins, and Heart Failure: Current Knowledge and Future Perspective.

Curr Heart Fail Rep 2021 Apr 9. Epub 2021 Apr 9.

Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Purpose Of Review: (Mal-)nutrition of micronutrients, like selenium, has great impact on the human heart and improper micronutrient intake was observed in 30-50% of patients with heart failure. Low selenium levels have been reported in Europe and Asia and thought to be causal for Keshan disease. Selenium is an essential micronutrient that is needed for enzymatic activity of the 25 so-called selenoproteins, which have a broad range of activities. Read More

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Neuromuscular fatigue and recovery after strenuous exercise depends on skeletal muscle size and stem cell characteristics.

Sci Rep 2021 Apr 8;11(1):7733. Epub 2021 Apr 8.

Research Institute for Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK.

Hamstring muscle injury is highly prevalent in sports involving repeated maximal sprinting. Although neuromuscular fatigue is thought to be a risk factor, the mechanisms underlying the fatigue response to repeated maximal sprints are unclear. Here, we show that repeated maximal sprints induce neuromuscular fatigue accompanied with a prolonged strength loss in hamstring muscles. Read More

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Image quality is resilient against tube voltage variations in post-mortem skeletal radiography with a digital flat-panel detector.

Sci Rep 2021 Apr 8;11(1):7701. Epub 2021 Apr 8.

Institute of Radiology, Schwarzwald-Baar Klinikum, Villingen-Schwenningen, Germany.

In recent phantom studies low-contrast detectability was shown to be independent from variations in tube voltage in digital radiography (DR) systems. To investigate the transferability to a clinical setting, the lower extremities of human cadavers were exposed at constant detector doses with different tube voltages in a certain range, as proposed in the phantom studies. Three radiologists independently graded different aspects of image quality (IQ) in a comparative analysis. Read More

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Self-Assembling Nano-Globular Peptide from Human Lactoferrin Acts as a Systemic Enhancer of Bone Regeneration: A Novel Peptide for Orthopedic Application.

ACS Appl Mater Interfaces 2021 Apr 8. Epub 2021 Apr 8.

Endocrinology Division, CSIR-Central Drug Research Institute, Lucknow 226031, India.

A technology for systemic and repeated administration of osteogenic factors for orthopedic use is an unmet medical need. Lactoferrin (∼80 kDa), present in milk, is known to support bone growth. We discovered a lactoferrin-mimetic peptide, LP2 (an 18-residue fragment from the N-terminus of the N-lobe of human lactoferrin), which self-assembles into a nano-globular assembly with a β-sheet structure in an aqueous environment. Read More

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Dietary Selenium Requirement for the Prevention of Glucose Intolerance and Insulin Resistance in Middle-Aged Mice.

J Nutr 2021 Apr 8. Epub 2021 Apr 8.

Department of Food Science, Nutrition, and Health Promotion, Mississippi State University, Mississippi State, MS, USA.

Background: Although dietary selenium (Se) deficiency or excess induces type 2 diabetes-like symptoms in mice, suboptimal body Se status usually causes no symptoms but may promote age-related decline in overall health.

Objectives: We sought to determine the dietary Se requirement for protection against type 2 diabetes-like symptoms in mice.

Methods: Thirty mature (aged 4 mo) male C57BL/6J mice were fed a Se-deficient torula yeast AIN-93M diet supplemented with Na2SeO4 in graded concentrations totaling 0. Read More

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[Noise Reduction Effect of Deep-learning-based Image Reconstruction Algorithms in Thin-section Chest CT].

Sichuan Da Xue Xue Bao Yi Xue Ban 2021 Mar;52(2):286-292

Department of Radiology, West China Hospital, Sichuan University, Chengdu 610041, China.

Objective: To evaluate the noise reduction effect of deep learning-based reconstruction algorithms in thin-section chest CT images by analyzing images reconstructed with filtered back projection (FBP), adaptive statistical iterative reconstruction (ASIR), and deep learning image reconstruction (DLIR) algorithms.

Methods: The chest CT scan raw data of 47 patients were included in this study. Images of 0. Read More

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From Good to Bad: The Opposing Effects of PTHrP on Tumor Growth, Dormancy, and Metastasis Throughout Cancer Progression.

Front Oncol 2021 22;11:644303. Epub 2021 Mar 22.

Program in Cancer Biology, Vanderbilt University, Nashville, TN, United States.

Parathyroid hormone related protein (PTHrP) is a multifaceted protein with several biologically active domains that regulate its many roles in normal physiology and human disease. PTHrP causes humoral hypercalcemia of malignancy (HHM) through its endocrine actions and tumor-induced bone destruction through its paracrine actions. PTHrP has more recently been investigated as a regulator of tumor dormancy owing to its roles in regulating tumor cell proliferation, apoptosis, and survival through autocrine/paracrine and intracrine signaling. Read More

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Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an Unusual Representative of Small Heat Shock Protein Family.

Biochemistry (Mosc) 2021 Jan;86(Suppl 1):S1-S11

Faculty of Biology, Lomonosov Moscow State University, Moscow, 119991, Russia.

HspB7 is one of ten human small heat shock proteins. This protein is expressed only in insulin-dependent tissues (heart, skeletal muscle, and fat tissue), and expression of HspB7 is regulated by many different factors. Single nucleotide polymorphism is characteristic for the HspB7 gene and this polymorphism correlates with cardio-vascular diseases and obesity. Read More

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January 2021

The many actions of insulin in skeletal muscle, the paramount tissue determining glycemia.

Cell Metab 2021 Apr;33(4):758-780

Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; Department of Physiology, University of Toronto, Toronto, ON, Canada; Department of Biochemistry, University of Toronto, Toronto, ON, Canada. Electronic address:

As the principal tissue for insulin-stimulated glucose disposal, skeletal muscle is a primary driver of whole-body glycemic control. Skeletal muscle also uniquely responds to muscle contraction or exercise with increased sensitivity to subsequent insulin stimulation. Insulin's dominating control of glucose metabolism is orchestrated by complex and highly regulated signaling cascades that elicit diverse and unique effects on skeletal muscle. Read More

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Physiologically based metformin pharmacokinetics model of mice and scale-up to humans for the estimation of concentrations in various tissues.

PLoS One 2021 7;16(4):e0249594. Epub 2021 Apr 7.

Latvian Biomedical Research and Study Centre, Riga, Latvia.

Metformin is the primary drug for type 2 diabetes treatment and a promising candidate for other disease treatment. It has significant deviations between individuals in therapy efficiency and pharmacokinetics, leading to the administration of an unnecessary overdose or an insufficient dose. There is a lack of data regarding the concentration-time profiles in various human tissues that limits the understanding of pharmacokinetics and hinders the development of precision therapies for individual patients. Read More

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Cystathionine gamma-lyase/H S signaling facilitates myogenesis under aging and injury condition.

FASEB J 2021 May;35(5):e21511

Department of Chemistry and Biochemistry, Laurentian University, Sudbury, ON, Canada.

Hydrogen sulfide (H S) can be endogenously produced and belongs to the class of signaling molecules known as gasotransmitters. Cystathionine gamma-lyase (CSE)-derived H S is implicated in the regulation of cell differentiation and the aging process, but the involvements of the CSE/H S system in myogenesis upon aging and injury have not been explored. In this study, we demonstrated that CSE acts as a major H S-generating enzyme in skeletal muscles and is significantly down-regulated in aged skeletal muscles in mice. Read More

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Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy.

Cell Mol Life Sci 2021 Apr 7. Epub 2021 Apr 7.

Faculty of Biology, Institute of Human Biology and Evolution, Adam Mickiewicz University, ul. Uniwersytetu Poznańskiego 6, 61-614, Poznań, Poland.

Duchenne muscular dystrophy (DMD) is a devastating chromosome X-linked disease that manifests predominantly in progressive skeletal muscle wasting and dysfunctions in the heart and diaphragm. Approximately 1/5000 boys and 1/50,000,000 girls suffer from DMD, and to date, the disease is incurable and leads to premature death. This phenotypic severity is due to mutations in the DMD gene, which result in the absence of functional dystrophin protein. Read More

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An Exercise Mimetic Approach to Reduce Poststroke Deconditioning and Enhance Stroke Recovery.

Neurorehabil Neural Repair 2021 Apr 7:15459683211005019. Epub 2021 Apr 7.

University of Ottawa, ON, Canada.

Evidence supports early rehabilitation after stroke to limit disability. However, stroke survivors are typically sedentary and experience significant cardiovascular and muscular deconditioning. Despite growing consensus that preclinical and clinical stroke recovery research should be aligned, there have been few attempts to incorporate cardiovascular and skeletal muscle deconditioning into animal models of stroke. Read More

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New roles for desmin in maintenance of muscle homeostasis.

FEBS J 2021 Apr 7. Epub 2021 Apr 7.

Faculty of Biology, Technion Institute of Technology, Haifa, Israel.

Desmin is the primary intermediate filament (IF) protein of cardiac, skeletal and smooth muscle. By linking the contractile myofibrils to the sarcolemma and cellular organelles, desmin IF contribute to muscle structural and cellular integrity, force transmission, and mitochondrial homeostasis. Mutations in desmin cause myofibril misalignment, mitochondrial dysfunction, and impaired mechanical integrity leading to cardiac and skeletal myopathies in humans, often characterized by the accumulation of protein aggregates. Read More

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Sarcopenia and Neuroscience: Learning to Communicate.

J Gerontol A Biol Sci Med Sci 2021 Apr 7. Epub 2021 Apr 7.

Trinity College Institute of Neuroscience and School of Psychology, Trinity College Dublin, Dublin, Ireland.

In the 1990s and early 2000s, the common definition for sarcopenia was age-related loss of skeletal muscle, and low levels of muscle mass were central to sarcopenia diagnosis. In more recent consensus definitions, however, low muscle strength displaces low muscle mass as a defining feature of sarcopenia. The change stems from growing evidence that muscle weakness is a better predictor of adverse health outcomes (e. Read More

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Identification of a novel TPM4 isoform transcript and comparison to the expression of other tropomyosin isoforms in bovine cardiac and skeletal muscles.

Int J Biochem Mol Biol 2021 15;12(1):17-34. Epub 2021 Feb 15.

Department of Medicine, SUNY Upstate Medical University Syracuse, NY, USA.

In mammals, there are four tropomyosin (TPM) genes (TPM1, TPM2, TPM3, and TPM4) each of which generate a multitude of alternatively spliced mRNAs. TPM isoform diversity in bovine unlike in humans are not well characterized. The purpose of this investigation is to perform an extensive analysis of the expression of both transcripts and corresponding protein of sarcomeric TPMs in bovine strated muscles. Read More

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February 2021

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.

Nat Commun 2021 04 6;12(1):2046. Epub 2021 Apr 6.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

Bone formation represents a heritable trait regulated by many signals and complex mechanisms. Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). Exploration of genes that cause SBD has significantly improved our understanding of the mechanisms that regulate bone formation. Read More

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SMART approaches for genome-wide analyses of skeletal muscle stem and niche cells.

Crit Rev Biochem Mol Biol 2021 Apr 7:1-17. Epub 2021 Apr 7.

Department of Human Genetics, McGill University, Montreal, Canada.

Muscle stem cells (MuSCs) also called satellite cells are the building blocks of skeletal muscle, the largest tissue in the human body which is formed primarily of myofibers. While MuSCs are the principal cells that directly contribute to the formation of the muscle fibers, their ability to do so depends on critical interactions with a vast array of nonmyogenic cells within their niche environment. Therefore, understanding the nature of communication between MuSCs and their niche is of key importance to understand how the skeletal muscle is maintained and regenerated after injury. Read More

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Hypoglycemic Effect of Hydrophobic BCAA Peptides Is Associated with Altered PI3K/Akt Protein Expression.

J Agric Food Chem 2021 Apr 6. Epub 2021 Apr 6.

School of Food Science and Engineering, South China University of Technology, Guangzhou 510640, China.

The hypoglycemic activities of the hydrophobic branched-chain amino acid (BCAA) peptides from seabuckthorn seed protein were preliminarily characterized in type 2 diabetic db/db mice. Four novel BCAA peptides (18.27 ± 0. Read More

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Inhibition of STAT3 prevents bone metastatic progression of prostate cancer in vivo.

Prostate 2021 Apr 6. Epub 2021 Apr 6.

Section for Oncology, Department of Radiation Sciences, Umeå University, Umeå, Sweden.

Background: Prostate cancer (PC) metastasizes to the skeleton forming predominantly sclerotic lesions, and there is currently no cure for bone metastatic disease. The transcription factor signal transducer and activator of transcription 3 (STAT3) is implicated as a metastatic driver, but its potential as therapeutic target in bone metastasis has not been investigated. In this study, we evaluated for the first time a STAT3 inhibitor, Napabucasin, as a therapeutic option for bone metastatic PC. Read More

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Bone mineral density and body composition in Polish girls with Myelomeningocele: effects of adapted physical activity and past fractures.

Homo 2021 Apr 6. Epub 2021 Apr 6.

Department of Human Biology, Józef Piłsudski University of Physical Education in Warsaw Marymoncka St. 34, 00-968 Warsaw, Poland.

The aim of this cross-sectional study was to evaluate the relationship between the condition of bone mineral density and body composition and the adapted physical activity, the number of past fractures and selected somatic characteristics of girls with myelomeningocele (MMC). The study examined 37 girls with myelomeningocele (MMC) at the age of 11.9 ± 1. Read More

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UCT Human Skeletal Repository: Its stewardship, history, composition and educational use.

Homo 2021 Apr 6. Epub 2021 Apr 6.

Division of Clinical Anatomy and Biological Anthropology, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, South Africa.

The University of Cape Town (UCT) Human Skeletal Repository began in 1913 and its composition a century later reflects the history of biological anthropology at the University, in South Africa and internationally. It consists of 1059 skeletons from archaeological (472; 44%), cadaveric (372; 36%) and forensic contexts (160; 14%). They are used for educational and research purposes to provide engaged scholarship and experiential learning for undergraduate and postgraduate students from a variety of disciplines including health professionals. Read More

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Exposure Assessment of Fluoride Intake Through Commercially Available Black Tea (Camellia sinensis L.) from Areas with High Incidences of Chronic Kidney Disease with Undetermined Origin (CKDu) in Sri Lanka.

Biol Trace Elem Res 2021 Apr 5. Epub 2021 Apr 5.

Department of Geography and Geosciences, GeoZentrum Nordbayern, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Schlossgarten 5, 91054, Erlangen, Germany.

Fluoride is a beneficial trace element for human health as its deficiency and excess levels can cause detrimental health effects. In Sri Lanka, dry zone regions can have excessive levels of fluoride in drinking water and can cause dental and skeletal fluorosis. In addition to drinking water, traditional habits of tea consumption can cause an additional intake of fluoride in the population. Read More

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Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.

Sci Rep 2021 Apr 5;11(1):7505. Epub 2021 Apr 5.

Department of Medical Biology, Hacettepe University Faculty of Medicine, 06100, Ankara, Turkey.

Desmin is a muscle-specific intermediate filament protein that has fundamental role in muscle structure and force transmission. Whereas human desmin protein is encoded by a single gene, two desmin paralogs (desma and desmb) exist in zebrafish. Desma and desmb show differential spatiotemporal expression during zebrafish embryonic and larval development, being similarly expressed in skeletal muscle until hatching, after which expression of desmb shifts to gut smooth muscle. Read More

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Annie Laquerriere Dana Jaber Emanuela Abiusi Jérome Maluenda Dan Mejlachowicz Alexandre Vivanti Klaus Dieterich Radka Stoeva Loic Quevarec Flora Nolent Valerie Biancalana Philippe Latour Damien Sternberg Yline Capri Alain Verloes Bettina Bessieres Laurence Loeuillet Tania Attie-Bitach Jelena Martinovic Sophie Blesson Florence Petit Claire Beneteau Sandra Whalen Florent Marguet Jerome Bouligand Delphine Héron Géraldine Viot Jeanne Amiel Daniel Amram Céline Bellesme Martine Bucourt Laurence Faivre Pierre-Simon Jouk Suonavy Khung Sabine Sigaudy Anne-Lise Delezoide Alice Goldenberg Marie-Line Jacquemont Laetitia Lambert Valérie Layet Stanislas Lyonnet Arnold Munnich Lionel Van Maldergem Juliette Piard Fabien Guimiot Pierre Landrieu Pascaline Letard Fanny Pelluard Laurence Perrin Marie-Hélène Saint-Frison Haluk Topaloglu Laetitia Trestard Catherine Vincent-Delorme Helge Amthor Christine Barnerias Alexandra Benachi Eric Bieth Elise Boucher Valerie Cormier-Daire Andrée Delahaye-Duriez Isabelle Desguerre Bruno Eymard Christine Francannet Sarah Grotto Didier Lacombe Fanny Laffargue Marine Legendre Dominique Martin-Coignard André Mégarbané Sandra Mercier Mathilde Nizon Luc Rigonnot Fabienne Prieur Chloé Quélin Hanitra Ranjatoelina-Randrianaivo Nicoletta Resta Annick Toutain Helene Verhelst Marie Vincent Estelle Colin Catherine Fallet-Bianco Michèle Granier Romulus Grigorescu Julien Saada Marie Gonzales Anne Guiochon-Mantel Jean-Louis Bessereau Marcel Tawk Ivo Gut Cyril Gitiaux Judith Melki

J Med Genet 2021 Apr 5. Epub 2021 Apr 5.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France

Background: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families. Read More

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Ubiquitin-protein ligase Ubr5 cooperates with hedgehog signalling to promote skeletal tissue homeostasis.

PLoS Genet 2021 Apr 5;17(4):e1009275. Epub 2021 Apr 5.

Edinburgh CRUK Cancer Research Centre, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

Mammalian Hedgehog (HH) signalling pathway plays an essential role in tissue homeostasis and its deregulation is linked to rheumatological disorders. UBR5 is the mammalian homologue of the E3 ubiquitin-protein ligase Hyd, a negative regulator of the Hh-pathway in Drosophila. To investigate a possible role of UBR5 in regulation of the musculoskeletal system through modulation of mammalian HH signaling, we created a mouse model for specific loss of Ubr5 function in limb bud mesenchyme. Read More

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