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| http://dx.doi.org/10.1136/jmg.2003.014829 | DOI Listing |
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Comment on "Near-Normalized Maxillomandibular Relationship and Upper Airway in Infants With Robin Sequence Treated With Stanford Orthodontic Airway Plate".
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It's interesting to note that despite clinical improvements in upper airway dimensions, the maxillary, mandibular, and mandibular body lengths remained smaller than those of controls. This finding may represent an underlying neurocristopathy, which represents a deficiency in the population of neural crest cells available in the embryonic maxillary and mandibular processes de novo. Indeed, it is known that craniofacial dimensions in infants with malformations, such as cleft palate, are often smaller when compared to non-cleft counterparts.
View Article and Find Full Text PDF3D-Printed PCL/SrHA@DFO Bone Tissue Engineering Scaffold with Bone Regeneration and Vascularization Function.
ACS Appl Bio Mater
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School of Materials Science and Physics, School of Chemical Engineering and Technology, China University of Mining and Technology, Xuzhou 221116, Jiangsu, China.
The application of a three-dimensional (3D)-printed biological functional scaffold in the repair of bone defects is a promising strategy. In this study, strontium-containing hydroxyapatite (SrHA) powder was synthesized by the hydrothermal method, and then poly(ε-caprolactone) (PCL)/HA and PCL/SrHA composite scaffolds were prepared by the high-temperature melt extrusion 3D printing technology. The basic physical and chemical properties, in vitro biological properties, osteogenesis, and angiogenesis abilities of the scaffold were studied.
View Article and Find Full Text PDFHistone bivalency in CNS development.
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Laboratory of Developmental Neurobiology, The Rockefeller University, New York, New York 10065, USA;
Neuronal maturation is guided by changes in the chromatin landscape that control developmental gene expression programs. Histone bivalency, the co-occurrence of activating and repressive histone modifications, has emerged as an epigenetic feature of developmentally regulated genes during neuronal maturation. Although initially associated with early embryonic development, recent studies have shown that histone bivalency also exists in differentiated and mature neurons.
View Article and Find Full Text PDFThe common murine retroviral integration site activating Hhex marks a distal regulatory enhancer co-opted in human Early T-cell precursor leukemia.
J Biol Chem
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Indiana University School of Medicine, Indianapolis, Indiana; IU Simon Comprehensive Cancer Center, Indianapolis, Indiana; R.L. Roudebush Indianapolis VA Medical Center, Indianapolis, Indiana. Electronic address:
The Hhex gene encodes a transcription factor that is important for both embryonic and post-natal development, especially of hematopoietic tissues. Hhex is one of the most common sites of retroviral integration in mouse models. We found the most common integrations in AKXD (recombinant inbred strains) T-ALLs occur 57-61kb 3' of Hhex and activate Hhex gene expression.
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Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
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