Results 31 to 40 of about 1,337,429 (212)

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease

open access: yesMolecular Genetics & Genomic Medicine, 2022
Background To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals. Methods We recruited six patients aged 14 to 45 years in three unrelated families with CAEND, including five ...
Xiao‐Hui Tao   +7 more
doaj   +1 more source

RAGs and Regulation of Autoantibodies [PDF]

open access: yes, 2004
Autoreactive antibodies are etiologic agents in a number of autoimmune diseases. Like all other antibodies these antibodies are produced in developing B cells by V(D)J recombination in the bone marrow.
Casellas, Rafael   +4 more
core   +1 more source

VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo. [PDF]

open access: yes, 2015
Lysosomes are classically viewed as vesicular structures to which cargos are delivered for degradation. Here, we identify a network of dynamic, tubular lysosomes that extends throughout Drosophila muscle, in vivo. Live imaging reveals that autophagosomes
Davis, Graeme W   +4 more
core   +3 more sources

Spotted bone disease [PDF]

open access: yesBMJ Case Reports, 2015
Osteopoikilosis, a benign autosomal dominant bone disorder, is an unusual condition that can often be misdiagnosed as a sinister primary bone anomaly or as metastatic bony lesions. We report a case of osteopoikilosis in a 29-year-old Indian man. A 29-year-old unmarried man, born of non-consanguineous parents, presented with a history of low back pain ...
Riddhi, Dasgupta, Nihal, Thomas
openaire   +2 more sources

RAGE Signaling in Skeletal Biology [PDF]

open access: yes, 2019
PURPOSE OF REVIEW: The receptor for advanced glycation end products (RAGE) and several of its ligands have been implicated in the onset and progression of pathologies associated with aging, chronic inflammation, and cellular stress. In particular, the
Davis, Hannah M.   +2 more
core   +2 more sources

Gadolinium tagged osteoprotegerin-mimicking peptide: a novel magnetic resonance imaging biospecific contrast agent for the inhibition of osteoclastogenesis and osteoclast activity [PDF]

open access: yes, 2018
The control of osteoblast/osteoclast cross-talk is crucial in the bone remodelling process and provides a target mechanism in the development of drugs for bone metabolic diseases.
Busquets, Rosa   +5 more
core   +6 more sources

Raloxifene Has No Efficacy in Reducing the High Bone Turnover and the Risk of Spontaneous Vertebral Fractures after Denosumab Discontinuation

open access: yesCase Reports in Rheumatology, 2018
At denosumab discontinuation, an antiresorptive agent is prescribed to reduce the high bone turnover, the rapid bone loss, and the risk of spontaneous vertebral fractures.
Elena Gonzalez-Rodriguez   +2 more
doaj   +1 more source

Reporting guidelines, review of methodological standards, and challenges toward harmonization in bone marrow adiposity research. Report of the Methodologies Working Group of the International Bone Marrow Adiposity Society [PDF]

open access: yes, 2020
The interest in bone marrow adiposity (BMA) has increased over the last decade due to its association with, and potential role, in a range of diseases (osteoporosis, diabetes, anorexia, cancer) as well as treatments (corticosteroid, radiation ...
et al,   +2 more
core   +1 more source

Biological evaluations of novel 2,3,3-Trisphosphonate in osteoclastic and osteoblastic activities [PDF]

open access: yes, 2017
Bisphosphonates (BPs) are the first line treatment for many bone diseases including hypercalcimia associated with bone malignancies. In this paper, we introduce a new analogue of bisphosphonate called the 2,3,3-Trisphosphonate (2,3,3-TriPP) that was ...
Boccaccini, Aldo R.   +4 more
core   +3 more sources

Successful management of colistin- and carbapenem-resistant -associated ecthyma gangrenosum in acute myeloid leukemia: A rare complication

open access: yesSAGE Open Medical Case Reports, 2022
Pseudomonal ecthyma gangrenosum is a well-known condition in immunosuppressed patients. However, ecthyma gangrenosum associated with Klebsiella pneumoniae is a rare entity that requires early recognition and optimal antibiotic and surgical management. We
Aisha Jamal   +4 more
doaj   +1 more source

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