Results 21 to 30 of about 1,058,904 (200)

Pycnodysostosis With Papilledema and Isolated Low Parathyroid Hormone Levels in an Eight-Year-Old Girl: A Genetically Confirmed Case Report. [PDF]

Clin Case Rep
ABSTRACT Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis.
Kesineni MK, Kandregula NJ, Majety SK, Pimenova YA, Kadali B, Potluri V, Lekkala P.   +6 more
europepmc   +2 more sources

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

Frontiers in Genetics, 2022
Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS is inherited in an autosomal recessive manner and is genetically and clinically heterogeneous.
Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Melike Ataseven Kulalı, Semra Gürsoy, Shiro Ikegawa, Long Guo   +9 more
doaj   +1 more source

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. [PDF]

PLoS ONE, 2013
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Ying Hu, I-Ping Chen, Salome de Almeida, Valdenize Tiziani, Cassio M Raposo Do Amaral, Kalpana Gowrishankar, Maria Rita Passos-Bueno, Ernst J Reichenberger   +7 more
doaj   +1 more source

Drug therapy of primary biliary diseases: classical and modern strategies [PDF]

, 2007
Definition: Primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) are both cholestatic liver diseases. A common feature of these disorders is the accumulation of bile acids in the liver and blood, presumably because of decreased ...
Leuschner, Ulrich, Schlichting, Julia, Julia Schlichting, Ulrich Leuschner   +3 more
core   +1 more source

The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice [PDF]

, 2010
Nearly every extracellular ligand that has been found to play a role in regulating bone biology acts, at least in part, through MAPK pathways. Nevertheless, much remains to be learned about the contribution of MAPKs to osteoblast biology in vivo. Here we
Zhai, Bo, Weiguo Zou, Shim, Jae-Hyuck, Hu, Dorothy, Lotinun, Sutada, Glimcher, Laurie H., Arthur, Simon; id_orcid, Michael D. Schneider, Yasuyo Sano, Min Xie, Matthew B. Greenblatt, Laurie H. Glimcher, Jae-Hyuck Shim, Roger Davis, Xie, Min, Sano, Yasuyo, Despina Sitara, Schweitzer, Michelle, Park, Jin Mo, Schneider, Michael D., Gygi, Steven, Greenblatt, Matthew B., Baron, Roland, Simon Arthur, Zou, Weiguo, Jin Mo Park, Michelle Schweitzer, Davis, Roger, Roland Baron, Sitara, Despina, Sutada Lotinun, Dorothy Hu, Bo Zhai, Steven Gygi   +33 more
core   +1 more source

Axial melorheostosis: A rare presentation

Radiology Case Reports, 2020
Melorheostosis is a rare sclerosing bone dysplasia that most commonly affects the lower extremity long bones in a sclerotomal distribution. Melorheostosis of the spine is a particularly rare manifestation of this disease.
Nikhil Bayya, BS, Anna Fairfax, BS, Courtney Dey, MD, Shawn Butela, MD, Frank Mihlon, MD   +4 more
doaj   +1 more source

Ribbing disease: a case report and literature review

Acta Orthopaedica et Traumatologica Turcica, 2020
Ribbing disease (RD) is a rare bone dysplasia characterized by benign endosteal and periosteal new bone formation confined to the diaphysis of the long bones of the lower extremities in young adults. The etiology and optimal treatment for the disease are
Yusuf Ozturkmen, Mahmut Karamehmetoglu
doaj   +1 more source

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

Molecular Genetics & Genomic Medicine, 2022
Background Melorheostosis (MEL) is an exceptionally rare sclerosing bone dysplasia with asymmetrically exuberant bone formation and soft tissue lesions in a segmental distribution.
Xiaojun Han, Yang Xu, Zhanying Wei, Chun Wang, Hua Yue, Zhenlin Zhang   +5 more
doaj   +1 more source

Recombinant sclerostin inhibits bone formation in vitro and in a mouse model of sclerosteosis

Journal of Orthopaedic Translation, 2021
Background: Sclerosteosis, a severe autosomal recessive sclerosing skeletal dysplasia characterised by excessive bone formation, is caused by absence of sclerostin, a negative regulator of bone formation that binds LRP5/6 Wnt co-receptors.
Timothy Dreyer, Mittal Shah, Carl Doyle, Kevin Greenslade, Mark Penney, Paul Creeke, Apoorva Kotian, Hua Zhu Ke, Vinny Naidoo, Gill Holdsworth   +9 more
doaj   +1 more source

IgG4 Related Sclerosing Inflammatory Pseudotumor Simulating Cholesteatoma Of The Temporal Bone [PDF]

, 2023
Introduction Sclerosing inflammatory pseudotumor of the temporal bone is a rare fibro-inflammatory, benign albeit locally aggressive pathological entity.
Mrinmayi Dahanukar, Trishna Chitnis, Sangeeta Varty   +2 more
core   +1 more source