Results 41 to 50 of about 1,796 (161)
Cleidocranial dysplasia is a disease that occurs secondary to a dominant autosomal inheritance. There is no predilection for any genre or ethnic group. As there is a delay in the eruption and/or absence of permanent teeth, the patients usually report to ...
Mahalakshmi Ikkanur Puttaranganaik +3 more
doaj +1 more source
GSK-3beta controls osteogenesis through regulating Runx2 activity.
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
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
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
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
ABSTRACT Objective To explore the effect of personalised titanium plate Bone‐anchored maxillary protraction (BAMP) on the maxillofacial structure of adolescents with skeletal Class III malocclusion. Methods A total of 20 patients with skeletal Class III malocclusion were selected as the treatment group 1 (TG1) with treatment using individualised BAMP ...
Yang Liu +7 more
wiley +1 more source
Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
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
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
Cleidocranial dysplasia: A report of two cases
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that presents with skeletal dysplasia. It commonly presents with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth,
D N Mehta, R V Vachhani, M B Patel
doaj +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
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

