Results 151 to 160 of about 123,532 (341)
Adolescent idiopathic scoliosis
Nature Reviews Disease Primers, 2015 J. Cheng +14 more
semanticscholar +1 more source
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
Clinical Genetics, EarlyView.We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti +17 more
wiley +1 more source
QUANTITATION OF CALCIUM METABOLISM IN POSTMENOPAUSAL OSTEOPOROSIS AND IN SCOLIOSIS* [PDF]
, 1963 F. Bronner +4 more
openalex +1 more source
Engineering Intervertebral Disc Regeneration: Biomaterials, Cell Sources and Animal Models
Cell Proliferation, EarlyView.This review highlights the current tissue engineering approaches utilising biomaterials, animal models and cell sources for intervertebral disc regeneration and discusses future opportunities. ABSTRACT Intervertebral disc (IVD) degeneration is an age‐related problem triggering chronic spinal issues, such as low back pain and IVD herniation.
Sidong Yang +8 more
wiley +1 more source