Results 31 to 40 of about 6,213,342 (156)

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

Inhibition of Integrin αvβ6 Activation of TGF‐β Attenuates Tendinopathy

Advanced Science, Volume 9, Issue 11, April 14, 2022., 2022
In the context of physiological load, the latency‐associated protein (LAP) is linked with tenocytes via arginine‐glycine‐ascorbate amino acid (RGD)‐αvβ6 associate, and TGF‐β remains latent. Excessive or repetitive loading induces conformation changes of LAP, leading to the release of active TGF‐β which binds to its receptor and initiates proliferation,
Xiao Wang, Shen Liu, Tao Yu, Senbo An, Ruoxian Deng, Xiaohua Tan, Janet Crane, Weixin Zhang, Dayu Pan, Mei Wan, Andrew Carr, Xu Cao   +11 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

Imaging aspects of Camurati-Engelmann disease [PDF]

Revista da Associação Médica Brasileira, 2016
A 35-year-old female patient undergoing outpatient mon-itoring at the Specialist Medical Outpatient Clinic (AME, in portuguese acronym) in Mogi Guacu, Sao Paulo, Brazil.Since childhood the patient has presented generalized pain in the body, mainly in the lower limbs, which has been more intense for the last 2 years, with no relation to physical effort,
Simone, Uezato, Gustavo, Dias, Juliana, Inada, Marcelo, Valente, Eloy, Fernandes   +4 more
openaire   +5 more sources

Pathological mechanism of chondrocytes and the surrounding environment during osteoarthritis of temporomandibular joint

Journal of Cellular and Molecular Medicine, Volume 25, Issue 11, Page 4902-4911, June 2021., 2021
Abstract Temporomandibular joint (TMJ) osteoarthritis is a common chronic degenerative disease of the TMJ. In order to explore its aetiology and pathological mechanism, many animal models and cell models have been constructed to simulate the pathological process of TMJ osteoarthritis.
Baochao Li, Guangzhao Guan, Li Mei, Kai Jiao, Huang Li   +4 more
wiley   +1 more source

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

BioMed Research International, Volume 2021, Issue 1, 2021., 2021
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early‐onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM ...
Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, Lei Zeng, Rong Xiang, Burak Durmaz   +5 more
wiley   +1 more source

Unusual association between enchondroma and Camurati-Engelmann disease: a case report. [PDF]

Ups J Med Sci, 2010
Nagasawa H, Okada K, Nanjo H, Sasaki H, Chida S, Shimada Y.   +5 more
europepmc   +2 more sources

Seropositive Rheumatoid Arthritis with Very Unusual X-ray Findings

European Journal of Case Reports in Internal Medicine, 2018
We described the case of a 23-year-old Nepalese man with seropositive rheumatoid arthritis and abnormal x-ray findings, found to be due to a very rare bone disease: Camurati Engelmann disease or progressive diaphyseal dysplasia (PDD).
Laith Alamlih, Mohamed Alkahlout, Abdulrahim Siam, Syed Alam, Abdul-Wahab Al-Allaf   +4 more
doaj   +1 more source

Camurati-Engelmann disease

, 2022
Introducción: La enfermedad de Camurati-Engelmann es una displasia ósea esclerosante autosómica dominante, se estima en 1:1,000,000 de personas, con aproximadamente 300 casos reportados en el mundo.
Arturo Terranova, Daniela, Satizábal Soto, José María, Ramírez Ramírez, Stephany, Moreno Giraldo, Lina Johanna   +3 more
core   +2 more sources

Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

Molecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020
Our study achieved a diagnostic yield from WES of 26% (13/50). These cases were diagnostically challenging as prior investigations failed to give clues on specific genetic diagnosis. Our findings are compatible to previous studies observing the diagnostic yield tends to be lower in cohorts that have already undergone prior extensive evaluations ...
Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan   +14 more
wiley   +1 more source