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Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFDental Rehabilitation After Microvascular Reconstruction of Segmental Jaw Defects: A Ten-Year Follow-Up.
J Clin Med
January 2025
Department of Oral and Maxillofacial Surgery, University Hospital of Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
: Defects in maxillary and mandibular continuity are common in maxillofacial practice. They can occur after trauma, osteonecrosis, congenital jaw deformities, or surgical resection of benign or malignant tumours. Reconstruction with microvascular bone flaps and subsequent prosthetic rehabilitation is considered the contemporary first line treatment.
View Article and Find Full Text PDFWhole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts.
J Craniomaxillofac Surg
December 2024
Department of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), SP, Brazil. Electronic address:
This study describes the results of whole exome sequencing in the etiological investigation and genetic counseling of families presenting with non-syndromic oral clefts with vertical transmission recorded in the Brazilian Database on Craniofacial Anomalies. Whole exome sequencing was performed in 18 families presenting with non-syndromic oral clefts with vertical transmission, and variant filtering was used to identify rare, and also possibly pathogenic variants in genes associated with oral clefts. Overall, our study identified seven families (38.
View Article and Find Full Text PDFExperimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice.
Congenit Anom (Kyoto)
January 2025
Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.
Pregnancy loss is a significant concern worldwide, encompassing miscarriage and stillbirth. Miscarriage, defined as the loss of a baby before 28 weeks of gestation, accounts for approximately 15% of pregnancies. Stillbirth, occurring at or after 28 weeks of gestation, affects nearly 2.
View Article and Find Full Text PDFSelf-Identified Employment Challenges for Young Adults with a Cleft Lip and Palate: A Qualitative Exploration.
Behav Sci (Basel)
January 2025
Faculty of Dentistry, Universiti Kebangsaan Malaysia, Kuala Lumpur 50300, Malaysia.
As individuals with a cleft lip and palate (CLP) transition into adulthood, they face unique employment challenges related to income, job stability, and fewer career options. This study explored these challenges through two focus group discussions with 19 participants (aged 21-38), primarily women, to understand their employment experiences. Thematic analysis revealed the following three main themes: (1) physical factors, (2) psychosocial factors, and (3) overcoming employment challenges, with nine sub-themes including speech, hearing, appearance, health, childhood experiences, societal expectations, lack of self-confidence, communication improvement, and self-esteem building.
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