A novel mutation in PAX9 causes familial form of molar oligodontia [PDF]
European Journal of Human Genetics, 2005 PAX9 is a paired domain transcription factor that plays a critical role in odontogenesis. All mutations of PAX9 identified to date have been associated with nonsyndromic form of tooth agenesis. The present report describes an unusual novel mutation in PAX9 identified in a family with severe molar oligodontia. This heterozygous deletion combined with 24
Adrianna Mostowska
exaly +3 more sources
International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives [PDF]
Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet +47 more
wiley +2 more sources
Expression Characteristics of PAX7 and Its Prognostic Correlation in Breast Cancer [PDF]
The Breast Journal, Volume 2026, Issue 1, 2026.Objective To conduct a thorough analysis of public databases to investigate the expression patterns of the PAX7 gene in breast cancer. Methods We gathered gene expression data, clinical details, immunohistochemistry images, and genomic information from breast cancer patients through various public databases, such as TCGA, THPA, GEPIA, and cBioPortal ...
Bahatiguli Silafu +3 more
wiley +2 more sources
TGF-β superfamily-induced transcriptional activation pathways establish the RAD52-dependent ALT machinery during malignant transformation of MPNSTs [PDF]
Scientific ReportsTo study telomere maintenance mechanism (TMM) activation during malignant transformation, we compared neurofibroma (NF) and malignant peripheral nerve sheath tumor (MPNST) in the same patient with type-1 neurofibromatosis (NF1), a total of 20 NF-MPNST ...
Eunji Choi +4 more
doaj +2 more sources
Association between PAX9 or MSX1 gene polymorphism and tooth agenesis risk: A meta-analysis [PDF]
Open Life SciencesZhong Xiaoyi +4 more
doaj +2 more sources
Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype [PDF]
BMC Developmental Biology, 2021 Abstract Background Successful embryogenesis relies on the coordinated interaction between genes and tissues. The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial morphogenesis, and mice deficient for either gene display abnormal tooth and palate development.
Khasawneh, Ramada +10 more
openaire +6 more sources
Chitosan Hydrogel-Delivered ABE8e Corrects PAX9 Mutant in Dental Pulp Stem Cells
Gels, 2023 Hypodontia (dental agenesis) is a genetic disorder, and it has been identified that the mutation C175T in PAX9 could lead to hypodontia. Cas9 nickase (nCas9)-mediated homology-directed repair (HDR) and base editing were used for the correction of this ...
Bowen Liu +4 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Non-syndromic oligodontia is characterized by the absence of six or more permanent teeth, excluding third molars, and can have aesthetic, masticatory, and psychological consequences.
Jiabao Ren +12 more
doaj +1 more source
Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia [PDF]
Journal of Dental Research, Dental Clinics, Dental Prospects, 2022 Background. Hypodontia, or the absence of one or more teeth during tooth formation, is a highly prevalent dental anomaly. Nevertheless, the main causes are still unknown.
Shiva Safari +5 more
doaj +1 more source
Pax9’s Interaction With the Ectodysplasin Signaling Pathway During the Patterning of Dentition
Frontiers in Physiology, 2020 In these studies, we explored for the first time the molecular relationship between the paired-domain-containing transcription factor, Pax9, and the ectodysplasin (Eda) signaling pathway during mouse incisor formation.
Shihai Jia +9 more
doaj +1 more source