Results 31 to 40 of about 10,418 (205)
CCDC154 Mutant Caused Abnormal Remodeling of the Otic Capsule and Hearing Loss in Mice
Frontiers in Cell and Developmental Biology, 2021 Osteopetrosis is a rare inherited bone disease characterized by dysfunction of osteoclasts, causing impaired bone resorption and remodeling, which ultimately leads to increased bone mass and density.
Kai Xu +6 more
doaj +1 more source
Osteopetrosis Complicated by Maxillary Osteomyelitis: A Case Report [PDF]
Iranian Journal of Otorhinolaryngology, 2011 Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis.
Bijan Khademi, Venon Asefi, Mehdi Tarzi
doaj +2 more sources
Osteomyelitis of the Mandible Secondary to Osteopetrosis: A Case Report
Turkish Archives of Otorhinolaryngology, 2013 Osteopetrosis is a rare genetic bone dysplasia that develops secondary to defective activity of osteoclasts in bone resorption and remodelling functions.
Mehmet Durmuşoğlu +3 more
doaj +1 more source
Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection
Balkan Journal of Medical Genetics, 2021 Osteopetrosis refers to a group of rare hereditary disorders characterized by generalized skeletal densification due to limited bone resorption by osteoclasts.
Katsafiloudi M +3 more
doaj +1 more source
3D Multicellular Scaffold Based Model for Advancing Bone Disorder Research
Advanced Functional Materials, Volume 36, Issue 13, 12 February 2026.A scalable 3D multicellular in vitro bone model engineered by integrating osteoblasts, osteoclasts, and endothelial cells on biodegradable scaffolds. The system recapitulates key features of human bone remodeling and disease pathology. As a proof of concept, the model mimics osteogenesis imperfecta, demonstrating its potential as a physiologically ...
Gali Guterman‐Ram +5 more
wiley +1 more source
Advanced Science, Volume 13, Issue 5, 27 January 2026.The VHL‐HIF2α (VHL is Von Hippel‐Lindau) axis in adipocytes differentially regulates hematopoiesis and bone formation through stem cell factor (SCF) and chemerin, respectively. This hypoxia‐responsive pathway in adipocytes establishes a systemic signaling network with HSCs and MSCs to maintain tissue homeostasis, revealing a targetable axis for ...
Qian Li +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa +4 more
wiley +1 more source
The Anatomical Record, Volume 308, Issue 12, Page 3197-3229, December 2025.Abstract Plutonium was discovered and first synthesized in the early 1940's. Several isotopes of plutonium are used in nuclear technologies, 238Pu for heat generation and 239Pu for energy production and weapons. Both isotopes emit alpha particles, which pose a significant radiation hazard when incorporated into the body.
Scott C. Miller
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
Carbonic Anhydrase II Deficiency: A Rare Case of Severe Obstructive Sleep Apnea
Frontiers in Pediatrics, 2018 The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts.
Emanuela di Palmo +7 more
doaj +1 more source