Results 31 to 40 of about 65,546 (106)
Cleidocranial Dysplasia: Case Report
, 2015 A 31-year-old man experienced bilateral posterior glenohumeral dislocation during seizures. He had cleidocranial dysplasia with complete absence of both clavicles.
ÇAĞLAYAN, Fatma +3 more
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Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.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
Balkan Journal of Medical GeneticsCleidocranial dysplasia is a rare autosomal dominant skeletal dysplasia. We present the first case in the literature involving a deletion of the 3′UTR of RUNX2 gene associated with a cleidocranial dysplasia spectrum disorder, along with the diagnostic ...
Mijovic M +9 more
doaj +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2014 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
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
Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 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
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