Results 41 to 50 of about 72,220 (148)
International Journal of Implant Dentistry, 2021 Adult patients with oral manifestations of untreated syndromic malformations usually exhibit a high degree of suffering. In this clinical report, we describe the implant-supported prosthetic treatment of a patient with cleidocranial dysplasia, a rare ...
Sigmar Schnutenhaus +2 more
doaj +1 more source
Advances in Oral and Maxillofacial Surgery, 2023 The diagnosis of Cleidocranial dysplasia is approached via clinical features, genetic testing, and imaging. CCD includes delayed or non-closure of cranial sutures the presence of bulging anterior fontanelle and multiple supernumerary teeth. We report two
Faisal Joueidi +4 more
doaj +1 more source
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
wiley +1 more source
Journal of Cellular Biochemistry, Volume 127, Issue 5, May 2026.ABSTRACT Agrin is an important factor in maintaining skeletal architecture. However, the role of osteoblast‐expressed agrin in bone tissue remains unexplored. Thus, we hypothesized that agrin‐deficient osteoblasts negatively affect bone tissue homeostasis by disrupting osteoblastic differentiation of mesenchymal stem cells (MSCs).
Gabriela Camarneiro Siqueira +10 more
wiley +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
, 1970 Cleidocranial dysplasia (CCD) is a bone disorder with cranial malformations, dental abnormalities, clavicular hypoplasia or agenesis and narrow thorax which allows approximation ofshoulders in front of chest. We report a case of CCD and discuss&
Chavva, Sunanda +3 more
core
Journal of Pineal Research, Volume 78, Issue 3, May 2026.ABSTRACT Disuse osteoporosis, a consequence of prolonged mechanical unloading, is characterized by bone loss and elevated fracture susceptibility. Although melatonin exhibits bone‑anabolic properties, its mechanistic role in the context of mechanical unloading remains elusive.
Quan Sun +13 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 4, April 2026.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.
Meghana Krishna Kesineni +6 more
wiley +1 more source
GSK-3beta controls osteogenesis through regulating Runx2 activity.
PLoS ONE, 2007 Despite accumulated knowledge of various signalings regulating bone formation, the molecular network has not been clarified sufficiently to lead to clinical application.
Fumitaka Kugimiya +9 more
doaj +1 more source