Results 31 to 40 of about 1,245,546 (143)

Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton

open access: yesInternational Journal of Endocrinology, Volume 2015, Issue 1, 2015., 2015
Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness.
Amélie E. Coudert   +4 more
wiley   +1 more source

Renal Biopsy: Use of Biomarkers as a Tool for the Diagnosis of Focal Segmental Glomerulosclerosis

open access: yesDisease Markers, Volume 2014, Issue 1, 2014., 2014
Focal segmental glomerulosclerosis (FSGS) is a glomerulopathy associated with nephrotic syndrome and podocyte injury. FSGS occurs both in children and adults and it is considered the main idiopathic nephrotic syndrome nowadays. It is extremely difficult to establish a morphological diagnosis, since some biopsies lack a considerable quantifiable number ...
Crislaine Aparecida da Silva   +9 more
wiley   +1 more source

Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases

open access: yes, 2015
Camurati-Engelmann disease is a rare bone disorder characterized by cortical thickening of the diaphysis of tubular bones, with sparing of the epiphysis.
Coimbra, I   +5 more
core   +1 more source

Transforming Growth Factor‐Beta Signaling in Cancer: Therapeutic Implications, Challenges, and Pathways to Progress

open access: yesMedComm – Oncology, Volume 4, Issue 3, September 2025.
TGF‐β inhibition is emerging as a promising cancer therapy, yet translating laboratory success to bedside implementation has suffered significant setbacks. The associated challenges include adverse drug reactions, inadequate predictive models, and activation of alternative signaling pathways.
Faizah A. Alabi   +5 more
wiley   +1 more source

Transforming Growth Factor‐Beta (TGF‐β) Signaling in Paravertebral Muscles in Juvenile and Adolescent Idiopathic Scoliosis

open access: yesBioMed Research International, Volume 2014, Issue 1, 2014., 2014
Most researchers agree that idiopathic scoliosis (IS) is a multifactorial disease influenced by complex genetic and environmental factors. The onset of the spinal deformity that determines the natural course of the disease, usually occurs in the juvenile or adolescent period.
Roman Nowak   +4 more
wiley   +1 more source

The Role of Inflammatory Cytokines, the RANKL/OPG Axis, and the Immunoskeletal Interface in Physiological Bone Turnover and Osteoporosis

open access: yesScientifica, Volume 2013, Issue 1, 2013., 2013
Although it has long been recognized that inflammation, a consequence of immune‐driven processes, significantly impacts bone turnover, the degree of centralization of skeletal and immune functions has begun to be dissected only recently. It is now recognized that formation of osteoclasts, the bone resorbing cells of the body, is centered on the key ...
M. Neale Weitzmann   +2 more
wiley   +1 more source

Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

open access: yesBioMed Research International, Volume 2010, Issue 1, 2010., 2010
Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton.
Katarzyna A. Piróg   +2 more
wiley   +1 more source

Camurati-Engelmann disease

open access: yes, 2019
: Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant sclerosing bone dysplasia. Mainly the skull and the diaphyses of the long tubular bones are affected.
Boudin, Eveline   +4 more
core   +1 more source

Doença de Camurati-Engelmann: manifestações típicas de uma doença rara Camurati-Engelmann disease: typical manifestations of a rare disease

open access: yes, 2009
A displasia diafisária progressiva ou doença de Camurati-Engelmann é uma doença rara, caracterizada por dor e fraqueza muscular dos membros afetados e espessamento progressivo da cortical diafisária dos ossos longos.
Frederico Pinto   +2 more
core   +1 more source

Presentación atípica de síndrome de CamuratiEngelmann en una paciente femenina colombiana. Reporte de caso

open access: yes, 2021
Camurati-Engelmann syndrome, also known as progressive diaphyseal dysplasia, is a rare, autosomal dominant disease with a prevalence of one per million inhabitants. It generates mutations of the transforming growth factor beta, which participates in bone
Díaz Vallejo, Jhony Alejandro   +3 more
core  

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