Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.
Clin Epigenetics
January 2025
Faculty of Medicine of TUD Dresden University of Technology, Institute for Clinical Genetics, University Hospital Carl Gustav Carus at TUD Dresden University of Technology, Dresden, Germany.
Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.
View Article and Find Full Text PDFDNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFGiant encephalocele in newborns: prenatal diagnosis, management and outcome.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Incidence of childhood and youth epilepsy: A population-based prospective cohort study utilizing current International League Against Epilepsy classifications for seizures, syndromes, and etiologies.
Epilepsia
January 2025
National Center for Epilepsy, Division of Clinical Neuroscience, full member of European Reference Network EpiCARE, Oslo University Hospital, Oslo, Norway.
Objective: This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications.
Methods: The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy cases were identified through registry linkages facilitated by Norway's universal health care system and mandatory reporting to the Norwegian Patient Registry.
Expanding the Potential of Circular RNA (CircRNA) Vaccines: A Promising Therapeutic Approach.
Int J Mol Sci
January 2025
State Key Laboratory of Developmental Biology of Freshwater Fish, Engineering Research Center of Polyploid Fish Reproduction and Breeding of the State Education Ministry, College of Life Sciences, Hunan Normal University, Changsha 410081, China.
In recent years, circular RNAs (circRNAs) have garnered significant attention due to their unique structure and function, positioning them as promising candidates for next-generation vaccines. The circRNA vaccine, as an RNA vaccine, offers significant advantages in preventing infectious diseases by serving as a vector for protein expression through non-canonical translation. Notably, circRNA vaccines have demonstrated enduring antigenic expression and generate a larger percentage of neutralizing antibodies compared to mRNA vaccines administered at the same dosage.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!