An overview of PAX1: Expression, function and regulation in development and diseases

Wu, Wei‐Yin; Kong, Xiangjun; Jia, Yanhan; Jia, Yihui; Ou, Weimei; Dai, Chaoliu; Li, Gang; Gao, Rui

doi:10.3389/fcell.2022.1051102

Cited by 14 publications

(5 citation statements)

References 80 publications

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“…Our model delineated the Fibroblast OPCST, which illustrates this differentiation process in fibroblasts (Figure 3a-d, Supplementary Figure 7d). Different from LepR+ BMSC, Pax1 (+) 49 and Scx (+) 50 regulate the early differentiation, and the PDGF signaling pathway ( Thbs4 , Thbs2 , Col6a6 ) was highly active during this stage (Figure 3d,g, Supplementary Figure 12a,b).…”

Section: Resultsmentioning

confidence: 99%

Trajectory-centric Framework TrajAtlas reveals multi-scale differentiation heterogeneity among cells, genes, and gene module in osteogenesis

Han,

Ji,

et al. 2024

Preprint

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Osteoblast differentiation is crucial for bone formation and maintaining skeletal integrity. Although it is now understood that this process exhibits significant heterogeneity across developmental stages and tissue microenvironments, the underlying mechanisms remain largely unexplored. In the present study, we introduceTrajAtlas, a comprehensive framework that addresses this gap in knowledge.TrajAtlascomprises four modules: a reference atlas (Differentiation Atlas), a differentiation model (Differentiation Model), a tool for differential pseudotime analysis (TrajDiff), and a method for pseudotemporal gene module detection (TRAVMap). By leveraging single-cell technologies,TrajAtlasoffers a systematic approach to exploring the multi-scale heterogeneity among cells, genes, and gene modules within population-level trajectories across diverse tissues and age groups. We systematically investigate the impact of age and injury on osteogenesis, providing new insights into osteoporosis and bone regeneration. In conclusion, our comprehensive framework offers novel insights into osteogenesis and provides a valuable resource for understanding the complexities of bone formation.Author SummaryOsteoblasts, the cells responsible for bone formation, can originate from various cellular sources. However, it’s unclear how different progenitor cells differentiate into osteoblasts, and how this process is influenced by factors such as age and tissue location. This knowledge gap stems from the lack of comprehensive databases and tools to decipher the differentiation process. In this study, we introduce TrajAtlas, a comprehensive framework designed to bridge this gap. To explore the cellular origins of osteoblasts, we constructed an atlas centered on osteogenesis. To answer how progenitor cells differentiate to osteoblasts, we developed a model that reveals the dynamic regulatory landscape during this process. To elucidate the influence of age and tissue location on differentiation, we built a tool for differential analysis. Furthermore, to identify conserved patterns of differentiation, we developed an approach to detect pseudotemporal gene modules. We validated the effectiveness of this framework by applying it to more datasets, unveiling novel cell states associated with injury. Notably, this framework focuses on dynamic processes, with the potential for broader applications in studying cell differentiation and complementing cell-centric analyses.

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Section: Resultsmentioning

confidence: 99%

Trajectory-centric Framework TrajAtlas reveals multi-scale differentiation heterogeneity among cells, genes, and gene module in osteogenesis

Han,

Ji,

et al. 2024

Preprint

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“…KFS, having female preponderance, is usually associated with variants in a range of genes, including GDF6 , MEOX1 , GDF3 , MYO18B , and RIPPLY2 , that encode proteins involved in somite development [ 11 ]. KFS is also associated with the PAX family of regulatory genes that are implicated in sclerotomal resegmentation that is critical for normal vertebra development [ 12 , 13 ]. Although the process of cervical vertebra fusion is recognized and used to diagnose patients with KFS, the underlying mechanisms associated with the spectrum of anomalies of KFS are not fully understood [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

Ullah,

Zafar,

Ishaq

et al. 2024

J Med Case Reports

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Background Klippel–Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel–Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system. Case presentation This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss. The patient had Klippel–Feil syndrome, with the typical clinical triad symptoms of Klippel–Feil syndrome, along with Sprengel’s deformity. She also exhibited generalized hypoalgesia, which had previously resulted in widespread burn-related injuries. Upon examination, bilateral optic disc swelling was observed, but intracranial pressure was found to be normal. Extensive investigations yielded normal results, except for hypocalcemia and low vitamin D levels, while parathyroid function remained within the normal range. Visual acuity improved following 2 months of calcium and vitamin D supplementation, suggesting that the visual loss and optic nerve swelling were attributed to hypocalcemia. Given the normal parathyroid function, it is possible that hypocalcemia resulted from low vitamin D levels, which can occur after severe burn scarring. Furthermore, the patient received a provisional diagnosis of congenital insensitivity to pain on the basis of the detailed medical history and the findings of severe and widespread loss of the ability to perceive painful stimuli, as well as impaired temperature sensation. However, due to limitations in genetic testing, confirmation of the congenital insensitivity to pain diagnosis could not be obtained. Conclusion This case highlights a rare presentation of transient binocular vision loss and pain insensitivity in a patient with Klippel–Feil syndrome, emphasizing the importance of considering unusual associations in symptom interpretation.

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“…Methylation of paired-box transcription factor 1 (PAX1), a protein that plays a critical role during embryogenesis, has shown consistent results throughout multiple studies ( 103 ). PAX1 acts as a tumor suppressor in different cancers (cervical, ovarian, colorectal carcinoma, parathyroid and oral SCC) ( 104 ). Methylation levels of PAX1 increased according to the severity of cervical lesions; therefore, its predictive value has been mainly evaluated in patients with LACC receiving CCRT.…”

Section: Dna Methylation Markersmentioning

confidence: 99%

Promising predictive molecular biomarkers for cervical cancer (Review)

Lizano,

Carrillo‑García,

De La Cruz‑Hernández

et al. 2024

Int J Mol Med

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Cervical cancer (CC) constitutes a serious public health problem. Vaccination and screening programs have notably reduced the incidence of CC worldwide by >80%; however, the mortality rate in low-income countries remains high. The staging of CC is a determining factor in therapeutic strategies: The clinical management of early stages of CC includes surgery and/or radiotherapy, whereas radiotherapy and/or concurrent chemotherapy are the recommended therapeutic strategies for locally advanced CC. The histopathological characteristics of tumors can effectively serve as prognostic markers of radiotherapy response; however, the efficacy rate of radiotherapy may significantly differ among cancer patients. Failure of radiotherapy is commonly associated with a higher risk of recurrence, persistence and metastasis; therefore, radioresistance remains the most important and unresolved clinical problem. This condition highlights the importance of precision medicine in searching for possible predictive biomarkers to timely identify patients at risk of treatment response failure and provide tailored therapeutic strategies according to genetic and epigenetic characteristics. The present review aimed to summarize the evidence that supports the role of several proteins, methylation markers and non-coding RNAs as potential predictive biomarkers for CC.

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An overview of PAX1: Expression, function and regulation in development and diseases

Cited by 14 publications

References 80 publications

Trajectory-centric Framework TrajAtlas reveals multi-scale differentiation heterogeneity among cells, genes, and gene module in osteogenesis

Trajectory-centric Framework TrajAtlas reveals multi-scale differentiation heterogeneity among cells, genes, and gene module in osteogenesis

Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report

Promising predictive molecular biomarkers for cervical cancer (Review)

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