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Exploring the genetics, mechanisms, and therapeutic innovations in non-syndromic tooth agenesis.
Morphologie
December 2024
Department of Preventive and Community Dentistry, Faculty of Dentistry, Universidade Federal de Uberlândia, Uberlândia, Brazil. Electronic address:
Article Synopsis
- Tooth agenesis is the congenital absence of one or more teeth due to failures during the normal dental development process, with unclear causes, particularly in non-syndromic cases.
- The study reviewed 53 articles linking specific genes, such as PAX9 and WNT10A, to non-syndromic tooth agenesis, highlighting their roles in tooth formation and signaling pathways.
- Understanding the genetics and molecular mechanisms behind tooth agenesis is crucial for improving diagnosis and developing personalized treatment options, emphasizing the need for ongoing research in this area.
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
J Am Acad Dermatol
December 2024
deCODE Genetics/Amgen, Inc, Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavík, Iceland. Electronic address:
Background: The contributions of genetic and environmental risk factors to hidradenitis suppurativa (HS) are both poorly understood.
Objective: To identify sequence variants that associate with HS and determine the contribution of environmental risk factors and inflammatory diseases to HS pathogenesis.
Methods: A genome-wide association meta-analysis of 4814 HS cases (Denmark: 1977; Iceland: 1266; Finland: 800; UK: 569; and US: 202) and 1.
LincROR promotes tumor growth of colorectal cancer through the miR-145/WNT2B/WNT10A/Wnt/β-catenin regulatory axis.
PLoS One
November 2024
Shenzhen Traditional Chinese Medicine Oncology Center, Shenzhen, Guangdong, P. R. China.
Colorectal cancer (CRC) is a prevalent form of malignant tumor, and the current clinical treatments are far from satisfactory. Identifying new therapeutic targets is therefore essential for clinical practices. The long intergenic non-protein coding RNA lincROR has been shown to play a significant role in the tumorigenesis of various cancers.
View Article and Find Full Text PDFBrca1 haploinsufficiency promotes early tumor onset and epigenetic alterations in a mouse model of hereditary breast cancer.
Nat Genet
December 2024
Department of Cell Biology, Harvard Medical School, Boston, MA, USA.
Article Synopsis
- Germline BRCA1 mutation carriers have a high breast cancer risk, but the reasons for this increased risk are not fully understood.
- Researchers used a genetically engineered mouse model to show that the early onset of tumors in BRCA1 heterozygous mice can't be explained by the traditional "two-hit" hypothesis alone.
- Advanced techniques like single-cell RNA sequencing revealed distinct chromatin alterations in normal Brca1 heterozygous cells, hinting at epigenetic changes that might promote cancer, with specific transcription factors identified as key players in tumor development.
The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.
Int J Mol Sci
October 2024
Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.
Hypophosphatasia (HPP) is a rare inherited disorder characterized by the decreased activity of tissue-nonspecific alkaline phosphatase (TNSALP), caused by mutations in the gene. The aim of this study was to conduct differential diagnostics in HPP patients using whole-exome sequencing (WES). The medical records of HPP patients and the genetic testing of the gene were reviewed.
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