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Congenital Central Hypoventilation Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Belonging to the Ensembl protein family, PHOX2B functions as a homeobox domain transcription factor of several genes essential for the development of neural crest derivatives and hindbrain motor neuron, including TH, DBH (dopamine β-hydroxylase), PHOX2A (paired-like homeobox 2A), PHOX2B itself, RET (rearranged during transfection), TLX2 (T-cell leukemia homeobox 2), ALK (anaplastic lymphoma kinase), SOX10, Hand1, SCG2, and MSX1. In addition, through interaction with PHOX2B, CREB-binding protein (CREBBP/CBP) and TRIM11 may co-mediate synergistic trans-activation.
Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Hypodontia, or lack of one or a few permanent teeth, is extremely common (5%–10% in most surveys) and is often inherited as a variable autosomal dominant trait. One gene implicated in both syndromic and non-syndromic tooth agenesis is MSX1. Hypodontia may be the only significant finding in female heterozygotes for X-linked hypohidrotic ectodermal dysplasia (see Chapter 18), where incisors may also be peg shaped. Oligodontia and complete anodontia are commonly associated with this disorder in males, but can also occur in other ectodermal dysplasia syndromes, in orofaciodigital (OFD) syndrome type 1 (X-linked dominant) and with iris dysplasia in Rieger syndrome (autosomal dominant). A single central incisor tooth may be associated with midline abnormalities such as holoprosencephaly (e.g. in association with SHH).
Nail anatomy and physiology
Published in Archana Singal, Shekhar Neema, Piyush Kumar, Nail Disorders, 2019
Transcription factor R‐spondin 4 initiates nail development, and its mutation leads to congenital anonychia. Functional p63 is required for the formation and maintenance of the apical ectodermal ridge, which is an embryonic signaling center required for limb outgrowth and hand plate formation. So, mutations in p63 affect nail development in syndromes like ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome as well as ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome. Wnt7a is also important for dorsal limb patterning and, hence, nail formation. Primary signaling abnormalities in Wnt7a are also associated with inherited nail dysplasias such as Schöpf–Schulz–Passarge syndrome (Wnt10a). LMX1b and MSX1 are important for nail differentiation. LMX1b is mutated in nail-patella syndrome and MSX1 in Witkop syndrome. However, in contrast to follicular development, the Shh gene is not required for nail plate formation. In murine models, Hoxc13 is also an important homeodomain-containing gene for both follicular and nail development.2–4
Immunohistochemical evaluation of the cleft-affected scar tissue three decades post-corrective surgery: A rare case report
Published in Acta Oto-Laryngologica Case Reports, 2022
Mara Pilmane, Nityanand Jain, Elina Nadzina, Pavlo Fedirko, Gunta Sumeraga
A downregulation in the expression of PAX-9 in the cleft-affected tissue when compared with the control tissue has been reported [28]. This is contrary to the results we obtained. PAX-9 is a critical regulator of mesenchymal-epithelial crosstalk during the palatogenesis process. We suspect that surgical correction of the cleft lip and palate somehow affects the protein expression which promotes accelerated cellular differentiation in the scar tissue [14]. Along with PAX-9, MSX1 has been shown to synergistically affect cellular proliferation in the dental epithelium and mesenchyme [29]. The expression of MSX-1 in the scar-affected tissue seemed to be like its expression reported in the surgical tissue obtained during the cleft-corrective surgery in children [30], indicating a rather stable yet elevated expression in the cleft-affected tissue.
Persistent Wnt/β-catenin signaling in mouse epithelium induces the ectopic Dspp expression in cheek mesenchyme
Published in Organogenesis, 2019
Nan Zhou, Nan Li, Jing Liu, Yu Wang, Jun Gao, Yingzhang Wu, Xiaoyan Chen, Chao Liu, Jing Xiao
In this study, the most surprising finding was the ectopically elongated Dspp-expressing cells in the K14-cre; Ctnnb1ex3f cheek mesenchyme. Since both Msx1 and Runx2 were essential for tooth development,21, 22 the extended Msx1- and Runx2-expressing mesenchyme contacting to the K14-cre; Ctnnb1ex3f cheek epithelium implicated an acquired odontogenic competence in cheek mesenchyme. It assumed that Msx1 and Runx2 expression domain determined the Dspp-expressing location in K14-cre; Ctnnb1ex3f facial epithelium. The expanded Msx1 and Runx2 expression was attributed to the mis-connection of zygomatic arch to the mandibular bone in K14-cre; Ctnnb1ex3f mouse.23
Combined sustained release of BMP2 and MMP10 accelerates bone formation and mineralization of calvaria critical size defect in mice
Published in Drug Delivery, 2018
Ricardo Reyes, Jose Antonio Rodríguez, Josune Orbe, María Rosa Arnau, Carmen Évora, Araceli Delgado
The main limitation of this study is that the mechanism by which MMP10 promotes the increase in mineralization is not known yet. It could be associated with an up-regulation of BMP-2 which, in turn, induces the expression of transcription factors responsible for osteoblastic differentiation and bone matrix production, such as Runx2 or Msx-2, as it has been demonstrated for other MMPs, such as MMP2 and MMP9 in the vascular smooth muscle calcification process (Shi et al., 2017). However, MMP10 has been shown to be required for proper repair in experimental models of tissue damage. CXCR4/stromal cell-derived factor-1 (SDF1)-regulated skeletal muscle repair has been shown to be dependent on MMP10 activity (Bobadilla et al., 2014), and crosstalk between MMP10 and the CXCR4/SDF1 axis has also been reported in a model of liver damage (García-Irigoyen et al., 2014). Interestingly, co-delivery of SDF1 enhances BMP-2-driven osteogenesis, associated with enhanced mobilization and homing of bone marrow-derived osteoprogenitor cells (Higashino et al., 2011; Sun et al., 2016). Thus, increased recruitment of osteoprogenitor cells through CXCR4/SDF1 signaling could be one of the mechanisms explaining MMP10-enhanced bone formation.