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  • Review
  • Open Access
8 Citations
4,313 Views
19 Pages

PAX Genes in Cardiovascular Development

  • Rebecca E. Steele,
  • Rachel Sanders,
  • Helen M. Phillips and
  • Simon D. Bamforth

The mammalian heart is a four-chambered organ with systemic and pulmonary circulations to deliver oxygenated blood to the body, and a tightly regulated genetic network exists to shape normal development of the heart and its associated major arteries....

  • Review
  • Open Access
17 Citations
6,822 Views
28 Pages

The PAX Genes: Roles in Development, Cancer, and Other Diseases

  • Taryn Shaw,
  • Frederic G. Barr and
  • Aykut Üren

29 February 2024

Since their 1986 discovery in Drosophila, Paired box (PAX) genes have been shown to play major roles in the early development of the eye, muscle, skeleton, kidney, and other organs. Consistent with their roles as master regulators of tissue formation...

  • Review
  • Open Access
2 Citations
2,387 Views
30 Pages

PAX Family, Master Regulator in Cancer

  • Erica Giacobbi,
  • Maria Paola Scioli,
  • Francesca Servadei,
  • Valeria Palumbo,
  • Rita Bonfiglio,
  • Pierluigi Bove,
  • Alessandro Mauriello and
  • Manuel Scimeca

PAX genes, known as master regulators, encode paired box (PAX) proteins that govern key processes in organ development and are widely expressed in normal tissues. Notably, PAX proteins also play a pivotal role in both promoting and suppressing tumori...

  • Review
  • Open Access
6 Citations
3,633 Views
19 Pages

The Role of the PAX Genes in Renal Cell Carcinoma

  • Lei Li,
  • Sultana Mehbuba Hossain and
  • Michael R. Eccles

Renal cell carcinoma (RCC) is a significant oncological challenge due to its heterogeneous nature and limited treatment options. The PAX developmental gene family encodes nine highly conserved transcription factors that play crucial roles in embryoni...

  • Article
  • Open Access
4 Citations
3,329 Views
16 Pages

Renal cell carcinoma (RCC) is the most common form of kidney cancer, consisting of multiple distinct subtypes. RCC has the highest mortality rate amongst the urogenital cancers, with kidney renal clear cell carcinoma (KIRC), kidney renal papillary ce...

  • Article
  • Open Access
5 Citations
3,813 Views
19 Pages

Pax-5 Protein Expression Is Regulated by Transcriptional 3′UTR Editing

  • Annie-Pier Beauregard,
  • Brandon Hannay,
  • Ehsan Gharib,
  • Nicolas Crapoulet,
  • Nicholas Finn,
  • Roxann Guerrette,
  • Amélie Ouellet and
  • Gilles A. Robichaud

28 December 2021

The Pax-5 gene encodes a transcription factor that is essential for B-cell commitment and maturation. However, Pax-5 deregulation is associated with various cancer lesions, notably hematopoietic cancers. Mechanistically, studies have characterized ge...

  • Article
  • Open Access
377 Views
17 Pages

Paired-Box (PAX) Gene Signatures as a Biomarker of Breast Cancer Progression

  • Manuel Scimeca,
  • Maria Paola Scioli,
  • Valeria Palumbo,
  • Lukas Funke,
  • Jonathan Woodsmith,
  • Francesca Servadei,
  • Erica Giacobbi,
  • Christian Seghetti,
  • Oreste Claudio Buonomo and
  • Rita Bonfiglio
  • + 5 authors

19 February 2026

Breast cancer is the leading cause of cancer-related death in women, and despite advances in preventive screening as well as in molecular classification, many patients still do not benefit from existing therapies, highlighting the importance of ident...

  • Case Report
  • Open Access
3,059 Views
10 Pages

PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome

  • Kumar Digvijay,
  • Grazia Maria Virzi,
  • Diego Pomarè Montin,
  • Lucas Gobetti da Luz,
  • Maryam Momeni Taramsari,
  • Ashwani Gupta,
  • Manish Malik,
  • Anurag Gupta,
  • Vinant Bhargava and
  • Anil Kumar Bhalla
  • + 3 authors

The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dom...

  • Article
  • Open Access
3,989 Views
14 Pages

Genome-Wide Identification and Evolutionary and Mutational Analysis of the Bos taurus Pax Gene Family

  • Jintao Zhong,
  • Wenliang Wang,
  • Yifei Li,
  • Jia Wei,
  • Shuangshuang Cui,
  • Ning Song,
  • Yunhai Zhang and
  • Hongyu Liu

9 July 2024

Bos taurus is known for its tolerance of coarse grains, adaptability, high temperature, humidity, and disease resistance. Primarily, cattle are raised for their meat and milk, and pinpointing genes associated with traits relevant to meat production c...

  • Review
  • Open Access
438 Views
27 Pages

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update

  • Valentina Lopez Gomez,
  • Samantha Wegner,
  • Stephanie Ocejo,
  • Dezaray Perez,
  • Diana Jabbour,
  • Virginia Fernandez,
  • Amr Abulaban,
  • Marwan Bahmad,
  • Tarec K. Elajami and
  • Hisham F. Bahmad
  • + 1 author

Paired box (PAX) genes encode a family of nine transcription factors that function as master regulators of embryogenesis, organogenesis, and lineage specification. Their tightly regulated spatial and temporal expression is essential for the developme...

  • Review
  • Open Access
25 Citations
7,028 Views
11 Pages

8 August 2018

High-grade serous ovarian cancer is a deadly disease that can originate from the fallopian tube or the ovarian surface epithelium. The PAX (paired box) genes PAX2 and PAX8 are lineage-specific transcription factors required during development of the...

  • Feature Paper
  • Article
  • Open Access
1 Citations
4,762 Views
21 Pages

Pax3 and Pax7 transcription factors are paralogs within the Pax gene family that that are expressed in early embryos in partially overlapping expression domains and have distinct functions. Significantly, mammalian development is largely unaffected b...

  • Article
  • Open Access
5 Citations
4,819 Views
15 Pages

PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

  • Mārtiņš Vaivads,
  • Ilze Akota and
  • Māra Pilmane

8 October 2021

Background and Objectives: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (PAX7, PAX9) and receptor-like tyrosine kinase (RYK) have been previously associat...

  • Article
  • Open Access
3 Citations
3,275 Views
19 Pages

Comparison of the on Board Measured and Simulated Exhaust Gas Emissions on the Ro-Pax Vessels

  • Josip Orović,
  • Marko Valčić,
  • Vlatko Knežević and
  • Zoran Pavin

Increasingly stringent environmental requirements for marine engines imposed by the International Maritime Organisation and the European Union require that marine engines have the lowest possible emissions of greenhouse and harmful exhaust gases into...

  • Article
  • Open Access
51 Citations
7,539 Views
36 Pages

Electronic health record (EHR) systems are extremely useful for managing patients’ data and are widely disseminated in the health sector. The main problem with these systems is how to maintain the privacy of sensitive patient information. Due t...

  • Article
  • Open Access
24 Citations
4,280 Views
17 Pages

Pax3 and Pax7 are members of the Pax gene family which are essential for embryo and organ development. Both genes have been proved to be markers of muscle satellite cells and play key roles in the process of muscle growth and repair. Here, we identif...

  • Review
  • Open Access
284 Views
25 Pages

PAX3: A Driver of Normal Development and Disease

  • Noah B. Prince,
  • Joyce H. Liang,
  • Theresa M. Rosato and
  • Deborah Lang

17 March 2026

PAX3 plays a vital role in regulating proper growth, migration, differentiation, and survival during development of normal tissues, including those derived from the embryonic neural crest. PAX3 is a transcription factor with two separate DNA-binding...

  • Review
  • Open Access
13 Citations
5,078 Views
14 Pages

PAX9 in Cancer Development

  • Xiaoxin Chen,
  • Yahui Li,
  • Chorlada Paiboonrungruang,
  • Yong Li,
  • Heiko Peters,
  • Ralf Kist and
  • Zhaohui Xiong

Paired box 9 (PAX9) is a transcription factor of the PAX family functioning as both a transcriptional activator and repressor. Its functional roles in the embryonic development of various tissues and organs have been well studied. However, its roles...

  • Article
  • Open Access
364 Views
28 Pages

15 January 2026

This study examines the environmental and economic impacts of transitioning RORO Pax ships from diesel to green and blue hydrogen fuel, focusing on the Jazan case study vessel. It evaluates the environmental and economic effects for both retrofitted...

  • Article
  • Open Access
27 Citations
11,398 Views
16 Pages

PAX2 Expression in Ovarian Cancer

  • Huijuan Song,
  • Suet-Yan Kwan,
  • Daisy I. Izaguirre,
  • Zhifei Zu,
  • Yvonne T. Tsang,
  • Celestine S. Tung,
  • Erin R. King,
  • Samuel C. Mok,
  • David M. Gershenson and
  • Kwong-Kwok Wong

15 March 2013

PAX2 is one of nine PAX genes that regulate tissue development and cellular differentiation in embryos. However, the functional role of PAX2 in ovarian cancer is not known. Twenty-six ovarian cancer cell lines with different histology origins were sc...

  • Review
  • Open Access
19 Citations
4,239 Views
12 Pages

Pax4 in Health and Diabetes

  • Jenna Ko,
  • Vivian A. Fonseca and
  • Hongju Wu

Paired box 4 (Pax4) is a key transcription factor involved in the embryonic development of the pancreatic islets of Langerhans. Consisting of a conserved paired box domain and a homeodomain, this transcription factor plays an essential role in early...

  • Article
  • Open Access
1 Citations
2,354 Views
17 Pages

PAX3 Regulatory Signatures and Gene Targets in Melanoma Cells

  • Stephen P. G. Moore,
  • Shripushkar Ganesh Krishnan,
  • Rutu Jaswanth Kothari,
  • Noah B. Prince,
  • Colin Kenny,
  • Chao Zhang and
  • Deborah Lang

14 May 2025

Background/Objectives: PAX3 is a transcription factor that drives melanoma progression by promoting cell growth, migration, and survival, while inhibiting cellular terminal differentiation. However, known PAX3 target genes are limited and cannot full...

  • Article
  • Open Access
9 Citations
8,718 Views
17 Pages

1 February 2016

Congenital hydrocephalus is a common birth-defect whose developmental origins are poorly understood. Pax3-null mutants show defects in myogenesis, neural tube closure, neural crest morphogenesis, and heart development that, consequently, results in e...

  • Article
  • Open Access
4 Citations
3,865 Views
14 Pages

8 August 2022

Performing liquefied natural gas (LNG) bunkering involves the risk of accidental leakage. When released from containment, LNG rapidly vaporizes into flammable natural gas and could lead to flash fire and explosion. Hence, LNG bunkering needs to take...

  • Review
  • Open Access
21 Citations
6,637 Views
24 Pages

The Pleiotropy of PAX5 Gene Products and Function

  • Parinaz Nasri Nasrabadi,
  • Danick Martin,
  • Ehsan Gharib and
  • Gilles A. Robichaud

3 September 2022

PAX5, a member of the Paired Box (PAX) transcription factor family, is an essential factor for B-lineage identity during lymphoid differentiation. Mechanistically, PAX5 controls gene expression profiles, which are pivotal to cellular processes such a...

  • Article
  • Open Access
7 Citations
2,735 Views
23 Pages

Chemopreventive Activity of Ellagitannins from Acer pseudosieboldianum (Pax) Komarov Leaves on Prostate Cancer Cells

  • Se-Yeon Son,
  • Jin-Hyeok Choi,
  • Eun-Bin Kim,
  • Jun Yin,
  • Seo-Yeon Seonu,
  • Si-Yeon Jin,
  • Jae-Yoon Oh and
  • Min-Won Lee

24 February 2023

Several studies have shown that compounds from Acer pseudosieboldianum (Pax) Komarov leaves (APL) display potent anti-oxidative, anti-inflammatory, and anti-proliferative activities. Prostate cancer (PCa) is the most common cancer among older men, an...

  • Article
  • Open Access
9 Citations
2,680 Views
13 Pages

Pax5 Negatively Regulates Osteoclastogenesis through Downregulation of Blimp1

  • Jiyeon Yu,
  • Sumi Kim,
  • Nari Lee,
  • Hyoeun Jeon,
  • Jun Lee,
  • Masamichi Takami and
  • Jaerang Rho

20 February 2021

Paired box protein 5 (Pax5) is a crucial transcription factor responsible for B-cell lineage specification and commitment. In this study, we identified a negative role of Pax5 in osteoclastogenesis. The expression of Pax5 was time-dependently downreg...

  • Article
  • Open Access
12 Citations
3,173 Views
12 Pages

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns

  • Haochen Liu,
  • Hangbo Liu,
  • Lanxin Su,
  • Jinglei Zheng,
  • Hailan Feng,
  • Yang Liu,
  • Miao Yu and
  • Dong Han

The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified pathogenic gene variants by whole-exome sequencing (WES) and Sanger sequencing and then studied...

  • Article
  • Open Access
4 Citations
1,677 Views
11 Pages

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

  • Tatyana A. Vasilyeva,
  • Andrey V. Marakhonov,
  • Anna A. Voskresenskaya,
  • Vitaly V. Kadyshev,
  • Natella V. Sukhanova,
  • Marina E. Minzhenkova,
  • Nadezhda V. Shilova,
  • Alla A. Latyshova,
  • Evgeny K. Ginter and
  • Rena A. Zinchenko
  • + 1 author

4 November 2023

This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while characterizing PAX6 gene variants. We contribute novel PAX6 pathogenic variants and 11p13 chromosome...

  • Review
  • Open Access
143 Citations
20,256 Views
22 Pages

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

  • Dulce Lima Cunha,
  • Gavin Arno,
  • Marta Corton and
  • Mariya Moosajee

17 December 2019

The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it...

  • Article
  • Open Access
60 Citations
8,766 Views
11 Pages

19 April 2011

Pseudostellaria heterophylla (Miq.) Pax is one of the most widespread herbal and healthcare products in China. Extensive clinical use has shown that it has functions which “strengthens qi and generates saliva, moistens the lung and relieves cough”. T...

  • Review
  • Open Access
23 Citations
7,386 Views
18 Pages

PAX8 in the Junction between Development and Tumorigenesis

  • Reli Rachel Kakun,
  • Zohar Melamed and
  • Ruth Perets

Normal processes of embryonic development and abnormal transformation to cancer have many parallels, and in fact many aberrant cancer cell capabilities are embryonic traits restored in a distorted, unorganized way. Some of these capabilities are cell...

  • Article
  • Open Access
964 Views
20 Pages

PAX6 Downregulation Triggers HIF-1α-Mediated Ferroptosis in Glioma Cells

  • Qizhi Luo,
  • Li Fu,
  • Jie Zhang,
  • Shashuang Zhang,
  • Lixiang Wu,
  • Quan Zhu and
  • Baisheng Huang

16 October 2025

Background: The paired-box gene 6 (PAX6) is an important transcription factor in the central nervous system, mainly regulating the development and differentiation of embryonic eyes and the nervous system. PAX6 expression is significantly decreased in...

  • Communication
  • Open Access
13 Citations
3,950 Views
10 Pages

PAX6 Expression Patterns in the Adult Human Limbal Stem Cell Niche

  • Naresh Polisetti,
  • Günther Schlunck and
  • Thomas Reinhard

23 January 2023

Paired box 6 (PAX6), a nuclear transcription factor, determines the fate of limbal epithelial progenitor cells (LEPC) and maintains epithelial cell identity. However, the expression of PAX6 in limbal niche cells, primarily mesenchymal stromal cells (...

  • Article
  • Open Access
24 Citations
5,527 Views
14 Pages

Pax3 Gene Regulated Melanin Synthesis by Tyrosinase Pathway in Pteria penguin

  • Feifei Yu,
  • Bingliang Qu,
  • Dandan Lin,
  • Yuewen Deng,
  • Ronglian Huang and
  • Zhiming Zhong

22 November 2018

The paired-box 3 (Pax3) is a transcription factor and it plays an important part in melanin synthesis. In this study, a new Pax3 gene was identified from Pteria penguin (Röding, 1798) (P. penguin) by RACE-PCR (rapid-amplification of cDNA ends-po...

  • Review
  • Open Access
42 Citations
10,882 Views
21 Pages

The Diabetes-Linked Transcription Factor PAX4: From Gene to Functional Consequences

  • Petra I. Lorenzo,
  • Francisco Juárez-Vicente,
  • Nadia Cobo-Vuilleumier,
  • Mario García-Domínguez and
  • Benoit R. Gauthier

9 March 2017

Paired box 4 (PAX4) is a key factor in the generation of insulin producing β-cells during embryonic development. In adult islets, PAX4 expression is sequestered to a subset of β-cells that are prone to proliferation and more resistant to stress-induc...

  • Article
  • Open Access
14 Citations
5,781 Views
24 Pages

Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development

  • Catherine A. Stothard,
  • Silvia Mazzotta,
  • Arjun Vyas,
  • Jurgen E. Schneider,
  • Timothy J. Mohun,
  • Deborah J. Henderson,
  • Helen M. Phillips and
  • Simon D. Bamforth

The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart de...

  • Review
  • Open Access
16 Citations
5,674 Views
14 Pages

PAX2 Gene Mutation in Pediatric Renal Disorders—A Narrative Review

  • Carmen Muntean,
  • Camelia Chirtes,
  • Balazs Baczoni and
  • Claudia Banescu

13 August 2023

The PAX2 gene is a transcription factor that is essential for the development of the urinary system among other transcription factors. The role of PAX2 is highlighted from the seventh week of gestation, when it is involved in development processes an...

  • Review
  • Open Access
39 Citations
10,089 Views
19 Pages

Pax6 is a sequence-specific DNA binding transcription factor that positively and negatively regulates transcription and is expressed in multiple cell types in the developing and adult central nervous system (CNS). As indicated by the morphological an...

  • Article
  • Open Access
39 Citations
6,545 Views
12 Pages

DNA Methylation Status of PAX1 and ZNF582 in Esophageal Squamous Cell Carcinoma

  • Jin Huang,
  • Guo Wang,
  • Jie Tang,
  • Wei Zhuang,
  • Li-Ping Wang,
  • Yu-Ligh Liou,
  • Ying-Zi Liu,
  • Hong-Hao Zhou and
  • Yuan-Shan Zhu

Hypermethylation of specific gene promoters is an important mechanism of carcinogenesis. A high frequency of promoter methylation of PAX1 and ZNF582 genes has been detected in cervical cancer. In the present study, we investigated the methylation sta...

  • Article
  • Open Access
1,132 Views
14 Pages

Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders

  • Yanyan Jin,
  • Na Li,
  • Zipei Chen,
  • Ke Zeng,
  • Jingjing Wang,
  • Aiqin Sheng,
  • Haidong Fu,
  • Lidan Hu and
  • Jianhua Mao

Background and Objectives: PAX2 serves as a critical transcription factor integral to the process of embryogenesis. Variations in the PAX2 gene could result in the aberrant development of numerous organs. Despite the identification of numerous mutati...

  • Review
  • Open Access
597 Views
27 Pages

10 February 2026

Pax6 is a multifunctional transcription factor that orchestrates cell cycle progression at distinct stages of early embryonic neurogenesis and serves as a molecular mediator integrating multiple signaling pathways associated with pathological process...

  • Article
  • Open Access
2 Citations
571 Views
6 Pages

Comparison of Coagulation Behaviour and Floc Characteristics of Polyaluminium Chloride (PAX 18, PAX XL19H, ALCAT) with Surface Water Treatment

  • Izabela M. Bigaj,
  • Renata Brzozowska,
  • Michał Łopata,
  • Grzegorz Wiśniewski,
  • Julita A. Dunalska,
  • Daniel Szymański and
  • Rafał A. Zieliński

23 November 2013

Coagulation behaviour of polyaluminium chloride (PACl) was comparatively investigated in terms of the removal of turbidity and colour with surface water. The growth of flocs was also compared. The results show that the decrease in saturation and valu...

  • Communication
  • Open Access
357 Views
8 Pages

Diagnostic Value of Pax2 and PTEN Expression in Atypical Endometrial Hyperplasia in the Bulgarian Population

  • Angelina Mollova-Kyosebekirova,
  • Ekaterina Uchikova,
  • Anna Mihaylova,
  • Mariya Koleva-Ivanova,
  • Mariana Parahuleva and
  • Nikoleta Parahuleva

Background: Differentiating atypical endometrial hyperplasia, also known as endometrial intraepithelial neoplasia (EAH/EIN) from endometrial hyperplasia without atypia is crucial due to the higher risk of progression to endometrioid adenocarcinoma, a...

  • Article
  • Open Access
5 Citations
3,585 Views
13 Pages

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism

  • Menglin Li,
  • Zhuo Li,
  • Miaomiao Chen,
  • Zhiqing Hu,
  • Miaojin Zhou,
  • Lingqian Wu,
  • Chunhua Zhang and
  • Desheng Liang

Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder characterized by elevated concentrations of thyroid stimulating hormone (TSH) and low concentrations of free thyroxine (FT4). PAX8 and NKX2-1 are important transcription f...

  • Article
  • Open Access
1 Citations
2,880 Views
22 Pages

H3 Acetylation-Induced Basal Progenitor Generation and Neocortex Expansion Depends on the Transcription Factor Pax6

  • Godwin Sokpor,
  • Cemil Kerimoglu,
  • Pauline Antonie Ulmke,
  • Linh Pham,
  • Hoang Duy Nguyen,
  • Beate Brand-Saberi,
  • Jochen F. Staiger,
  • Andre Fischer,
  • Huu Phuc Nguyen and
  • Tran Tuoc

23 January 2024

Enrichment of basal progenitors (BPs) in the developing neocortex is a central driver of cortical enlargement. The transcription factor Pax6 is known as an essential regulator in generation of BPs. H3 lysine 9 acetylation (H3K9ac) has emerged as a cr...

  • Article
  • Open Access
979 Views
10 Pages

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease

  • Deimante Brazdziunaite,
  • Gabija Mazur,
  • Marius Miglinas and
  • Algirdas Utkus

26 March 2025

Background and Objectives: Pathogenic variants in the PAX2 gene have been associated with a spectrum of eye and kidney disorders, ranging from papillorenal syndrome (known as renal coloboma syndrome) to isolated nephrosis without kidney morphological...

  • Article
  • Open Access
5 Citations
2,552 Views
14 Pages

Clinicopathological Relevance of PAX8 Expression Patterns in Acute Kidney Injury and Chronic Kidney Diseases

  • Maja Zivotic,
  • Dusko Dundjerovic,
  • Radomir Naumovic,
  • Sanjin Kovacevic,
  • Milan Ivanov,
  • Danijela Karanovic,
  • Gorana Nikolic,
  • Jasmina Markovic-Lipkovski,
  • Sanja Radojevic Skodric and
  • Jelena Nesovic Ostojic

Transcription factor PAX8, expressed during embryonic kidney development, has been previously detected in various kidney tumors. In order to investigate expression of PAX8 transcription factor in acute kidney injury (AKI) and chronic kidney diseases...

  • Article
  • Open Access
8 Citations
3,565 Views
10 Pages

19 February 2023

PAX2 is a transcription factor expressed during embryogenesis in the eye, ear, CNS, and genitourinary tract, and is one of the major regulators of kidney development. Mutations in this gene are associated with papillorenal syndrome (PAPRS), a genetic...

  • Article
  • Open Access
1,641 Views
17 Pages

Association of PAX3 Gene Polymorphism with Three-Dimensional Nasal Root Morphology

  • Seishiro Ueda,
  • Ryosuke Kimura,
  • Yong-Il Kim,
  • Mohamed Adel,
  • Yu Hikita,
  • Reina Hatanaka,
  • Masahiro Takahashi,
  • So Koizumi and
  • Tetsutaro Yamaguchi

14 August 2025

Paired box gene 3 (PAX3) plays an important role in craniofacial development. Mutations in this gene are associated with Waardenburg syndrome, which is a condition characterized by facial anomalies such as widely spaced inner corners of the eyes. PAX...

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