Results 11 to 20 of about 528 (154)

Skeletal dysplasias associated with mild myopathy a clinical and molecular review [PDF]

BioMed 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.
Briggs, Michael D., Pirog-Garcia, Katarzyna, Piróg, Katarzyna A.   +2 more
core   +4 more sources

Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati-Engelmann disease. [PDF]

Mol Genet Genomic Med, 2022
To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in China. In addition to the typical CAEND manifestations, tachycardia and heart valve defect were firstly reported in one girl carried the novel variant p.Cys223Trp in TGFβ1 gene, whereas whether the observed symptom was related to CAEND remains ...
Tao XH, Yang XG, Wang ZY, Xu Y, Lin XY, Xu T, Zhang ZL, Yue H.   +7 more
europepmc   +2 more sources

Increased Bone Formation and Accelerated Bone Mass Accrual in a Man Presenting with Diffuse Osteosclerosis/High Bone Mass Phenotype and Adenocarcinoma of Unknown Primary. [PDF]

JBMR Plus, 2023
Lumbar spine and femoral neck BMD showed marked increases in the 18 months prior to presentation with incidental osteosclerosis. Iliac crest biopsy reveals dense trabecular bone reflecting sclerosis at the time of presentation. ABSTRACT A 71‐year‐old man was referred for evaluation of incidental generalized osteosclerosis.
Diamond TH, Bryant C, Quinn R, Mohanty ST, Bonar F, Baldock PA, McDonald MM.   +6 more
europepmc   +2 more sources

Whole-Body Magnetic Resonance Imaging in Camurati-Engelmann Disease. [PDF]

JBMR Plus, 2020
JBMR Plus, Volume 4, Issue 4, April 2020.
Corrêa DG, Canella C, de Queiroz Campos Araújo AP, Mendonça S, Costa FM.   +4 more
europepmc   +2 more sources

Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery. [PDF]

Hum Mutat
Background Cystic fibrosis (CF) is the most common life‐shortening monogenic autosomal recessive disease in Caucasians with diverse and extensive comorbidities. Where the majority of studies have focused on the respiratory and digestive systems, there has been a paucity of research focusing on pain, even though people living with CF have reported a ...
Ward A, Mauleon R, Ooi CY, Rosic N.
europepmc   +2 more sources

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

JBMR Plus, Volume 7, Issue 4, April 2023., 2023
ABSTRACT Osteoblast Wnt/β‐catenin signaling conditions skeletal development and health. Bone formation is stimulated when on the osteoblast surface a Wnt binds to low‐density lipoprotein receptor‐related protein 5 (LRP5) or 6 (LRP6), in turn coupled to a frizzled receptor. Sclerostin and dickkopf1 inhibit osteogenesis if either links selectively to the
Michael P Whyte, Steven Mumm, Jonathan C Baker, Fan Zhang, Homer Sedighi, Shenghui Duan, Tim Cundy   +6 more
wiley   +1 more source

Macrophages and Bone Remodeling

Journal of Bone and Mineral Research, Volume 38, Issue 3, Page 359-369, March 2023., 2023
ABSTRACT Bone remodeling in the adult skeleton facilitates the removal and replacement of damaged and old bone to maintain bone quality. Tight coordination of bone resorption and bone formation during remodeling crucially maintains skeletal mass.
Megan M Weivoda, Elizabeth W Bradley
wiley   +1 more source

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

Journal of Bone and Mineral Research, Volume 38, Issue 2, Page 229-247, February 2023., 2023
ABSTRACT Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease‐causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these ...
Dylan J.M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L.K. McDonald, Ahmed El‐Gazzar, Neelam Hassan, Maria‐Luisa Brandi, José A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx   +19 more
wiley   +1 more source

Genetic and Epigenetic Fine‐Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint

Arthritis &Rheumatology, Volume 73, Issue 10, Page 1866-1877, October 2021., 2021
Objective Osteoarthritis (OA) is an age‐related disease characterized by articular cartilage degeneration. It is largely heritable, and genetic screening has identified single‐nucleotide polymorphisms (SNPs) marking genomic risk loci. One such locus is marked by the G>A SNP rs75621460, downstream of TGFB1.
Sarah J. Rice, Jack B. Roberts, Maria Tselepi, Abby Brumwell, Julia Falk, Charlotte Steven, John Loughlin   +6 more
wiley   +1 more source