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Familial Hyperparathyroidism
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Luigia Cinque, Alfredo Scillitani, Vito Guarnieri
In 2004, the role in hyperparathyroid states was hypothesized by Kebebew et al. By RT-qPCR they evaluated GCM2 mRNA expression in normal, hyperplastic, adenomatous, and carcinomatous parathyroid tissues from patients with primary and secondary hyperparathyroidism. Although no difference was found between parathyroid adenoma, hyperplasia, and carcinoma, the level of GCM2 mRNA expression was higher in pathologic glands causing primary and secondary hyperparathyroidism as compared to normal parathyroid tissue [130]. This result was in contrast with Correa et al., who had reported under-expression of GCM2 mRNA in parathyroid adenoma of pHPT as compared to normal and hyperplastic parathyroid glands from patients with uremia [143]. However, it seemed that while hypoparathyroidism was characterized by the lack of GCMB gene expression, overexpression or constitutive activation of this gene was somehow associated with parathyroid tumorigenesis in hyperparathyroidism. Alternatively, the aberrant expression of GCMB gene in parathyroid tumors might be due to the deregulation of upstream signals or other transcription factors such as Hoxa3, Pax1, Pax9, and Eya1 (reviewed in [130]).
The protoconid: a key cusp in lower molars. Evidence from a recent modern human population
Published in Annals of Human Biology, 2022
José María Bermúdez de Castro, Cecilia García-Campos, Susana Sarmiento, María Martinón-Torres
In order to investigate the processes behind M reduction, in this work, we examined the crown and Prd area in a sample of M1s, M2s, and M3s from a recent H. sapiens sample. One of the theoretically expected results is that M reduction would be isometric for all cusps, that is, that the M2 and the M3 would be isometric reduced versions of the M1. However, our study reveals that instead of decreasing, the absolute size of the Prd increases from M1 to M2/M3, adding complexity to the M reduction process. Furthermore, we have observed that the variance of the relative Prd area increases from M1 to M3, with a high range of variation for the latter. Our study also shows that there is a significant relationship between the M3 total crown area and the number of cusps. Interestingly, this relationship is not influenced by the Prd size area which remains relatively stable. The total crown area of M3s is affected by the variation in the number and size of the cusps that compose the talonid and which are phylogenetically more recent (Figure 2). The metaconid is rarely reduced and, usually, reduced M3s display a Prd, a metaconid, and a third cusp that is difficult to identify (Figure 3). No M3s with only two cusps were observed in our sample. The next step in this dental reduction would be agenesis of the M3 and the development arrest would occur at the early bud stage (Peters et al. 1998; Zhou et al. 2011). The Pax9 gene has been associated with selective tooth agenesis in humans and mice, mainly involving the posterior teeth (Pereira et al. 2006).
Extracellular Matrix Remodeling During Palate Development
Published in Organogenesis, 2020
Xia Wang, Chunman Li, Zeyao Zhu, Li Yuan, Wood Yee Chan, Ou Sha
Hyaluronic acid (HA) is a high molecular mass GAG, which helps to retain a large amount of water in the mesenchyme. As a major component of palatal mesenchyme, HA is shown accumulating in the nasal side and in the hinge region of the palatal mesenchyme with higher levers in the anterior/mid-part than anterior-most and posterior palate (Table 2).9,11,78 Regionally specific accumulation of extracellular GAGs, predominantly HA, is proposed to be the intrinsic force to drive palatal shelf elevation.10,49 Mice homozygous for Fgfr2C342, Pax9 and Golgb1 mutation, which have a palatal shelf elevation defect, exhibit reduced HA accumulation in the palatal shelves.9,88,89 HA synthase Has 1, 2, and 3, which synthesize HA at the plasma membrane, are disrupted in TGF-β3 mutant palatal shelves which failed to fuse in the midline, indicating that HA remodeling in palate is highly regulated by Tgf-β signaling pathways.49
Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children
Published in Fetal and Pediatric Pathology, 2020
Nayereh Noroozi, Seyed Alireza Dastgheib, Mohammad Hosein Lookzadeh, Seyed Reza Mirjalili, Mahmood Noorishadkam, Mohammad Javad Akbarian-Bafghi, Hossein Neamatzadeh
Despite the high heritability associated with NSCLP, only the interferon regulatory factor-6 (IRF6) gene has consistently been found to be associated with NSCLP in different ethnicities [5]. A number of different genes have been reported to be associated with NSCLP including AXIN2, IRF6, FGFR1, MSX1, PAX9, and TGF-α [2,6,7]. Of particular interest is axis inhibition protein-2 (AXIN2) gene, also known as axin-like protein (Axil), which is a global target gene and plays an important role in morphogenesis of the craniofacial area [8]. Moreover, AXIN2 gene is one of the most studied genes associated with tooth agenesis, the most common defect of dentition in humans [8–10]. The human AXIN2 gene is localized on chromosome 17q24.1 (a region that shows frequent loss of heterozygosity in several tumors), spans about 25 kbp and includes 10 coding exons and 3 non-coding 5' exons [11].