The lack of any real insight into the cause of this condition has led us to use a human molecular genetics approach to identify the genes perturbing normal dental development. We are reporting a strategy that can be applied to investigate the underlying cause of human tooth agenesis. Starting ...
During early tooth development, the transcription factors PAX9 and MSX1 act synergistically to induce tooth initiation. The prime odontogenic potential lies in the dental epithelium. With the expression of FGFs and BMPs by the epithelium and subsequent induction of PAX9 and MSX1 in the mesenchyme, ...
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am. J. Hum. Genet. 91, 1088–1094 (2012). CAS PubMed PubMed Central Google Scholar Houten, S. M. et al. Genetic basis of hyperlysinemia. Orphanet J. Rare Dis. 8, 57 (2013)....
Using a novel stem cell model, scientists have advanced our understanding of gastrulation—a critical early stage of human development—offering new insights that could improve outcomes in pregnancy and the understanding of developmental disorders. The image above shows a blastoid, a stem cell model ...
Different mutational processes often generate different combinations of mutation types, termed ‘signatures’.Until recently, mutational signatures in human cancer have been explored through a small number of frequently mutated cancer genes, notablyTP53(ref.4). Although informative, these studies have limit...
Human genome, all of the approximately three billion base pairs of deoxyribonucleic acid (DNA) that make up the entire set of chromosomes of the human organism. The human genome includes the coding regions of DNA, which encode all the genes (between 20,0
We have also shown that the PSEN1 ΔE9 mutation in transplanted human glia had multiple effects decreasing the proliferation of human cells, decreasing the levels of soluble human Aβ42, increasing the expression of myelin-related genes, and inducing wound healing and vasculature development pathways...
cerevisiae due to a specific microsatellite allele [13] as well as trisomy of the chromosome IX and altered copy numbers of specific genes [14]. Others have reported S. boulardii strains to tolerate acidic stress better and grow faster at 37 °C than S. cerevisiae [15]. Due to the fact...
Since multiple dental anomalies have been found in patients with KMT2D and KDM6A mutations, the localization of these genes during tooth development was investigated. We performed in situ hybridization of KMT2D and KDM6A in human tooth germs at 7.5 - 12 weeks of gestation. The expression of ...
The tooth is unusual, but there are ways that it might break naturally in the observed pattern. A premortem break or periodontal disease might cause asymmetrical wear by themselves. Preservative has been applied to the tooth's surface, making photographs misleading. And several skilled osteologi...