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Skeletal abnormalities caused by a Connexin43 mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.
Bone Res
January 2025
Department of Endodontology, School of Dental Medicine, University of Connecticut Health, Farmington, CT, USA.
Craniometaphyseal dysplasia (CMD), a rare craniotubular disorder, occurs in an autosomal dominant (AD) or autosomal recessive (AR) form. CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones. Many patients with CMD suffer from neurological symptoms.
View Article and Find Full Text PDFANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFEpidemiologic trends of cleft lip and/or palate in Switzerland.
BMC Oral Health
January 2025
Laboratory for Oral Molecular Biology, Department of Orthodontics and Dentofacial Orthopedics, University of Bern, Freiburgstrasse 3, Bern, 3010, Switzerland.
Background: Epidemiologic data on the number of cleft lip and/or palate (orofacial cleft (OFC)) births in Switzerland are currently sparse. However, this knowledge is essential for better understanding the etiologies underlying the various cleft phenotypes and providing expectant parents with the best possible healthcare planning and counseling.
Methods: This is the first descriptive study to report data on the prevalence of the various cleft types, their sex, and regional distributions in Switzerland.
PRMT1-methylated MSX1 phase separates to control palate development.
Nat Commun
January 2025
State Key Laboratory Cultivation Base of Research, Prevention and Treatment for Oral Diseases, Nanjing Medical University, Nanjing, China.
Little is known about the regulation and function of phase separation in craniofacial developmental disorders. MSX1 mutations are associated with human cleft palate, the most common craniofacial birth defect. Here, we show that MSX1 phase separation is a vertebrate-conserved mechanism underlying embryonic palatal fusion.
View Article and Find Full Text PDFIsolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate.
BMJ Case Rep
January 2025
Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine.
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