Results 81 to 90 of about 2,757 (201)

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita   +5 more
wiley   +1 more source

Expression of Odontogenic Genes in Human Bone Marrow Mesenchymal Stem Cells [PDF]

open access: yesCell Journal, 2013
Objective: Tooth loss is a common problem and since current tooth replacement methods cannot counter balance with biological tooth structures, regenerating natural tooth structures has become an ideal goal.
Seyedeh Sara Bagheri   +4 more
doaj  

Table1_Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia.XLSX

open access: yes, 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.
Xiuge Gu (4638145)   +11 more
core   +1 more source

Transcriptional analysis of the human PAX9 promoter

open access: yes, 2015
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Objectives: PAX9 belongs to the Pax family of transcriptional factor genes. This gene is expressed in embryonic tissues such as somites, pharyngeal pouch endoderm, distal limb buds and neural ...
de Andrade, SC   +4 more
core  

Dental agenesis: review of the literature and report of two cases

open access: yesRevista Facultad de Odontología Universidad de Antioquia, 2006
Tooth agenesis is the most common anomaly of craniofacial development. The purpose of this report is to present a brief review of literature about tooth agenesis, which includes: terminology, etiology, prevalence, associated syndromes and dental ...
Luz Ángela Arboleda-A.   +8 more
doaj  

The role of Msx1 and Pax9 in pathogenetic mechanisms of tooth agenesis

open access: yesDental Journal, 2009
Background: Tooth agenesis is one of the most common developmental anomalies in human, which one or a few teeth are absent because they have never formed, may cause cosmetic or occlusal harm, while severe agenesis which are relatively rare require ...
Yani Corvianindya Rahayu, dyah Setyorini
doaj   +1 more source

Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis [PDF]

open access: yes, 2014
PAX9 is a transcription factor expressed in the tooth mesenchyme during tooth morphogenesis. In Pax9-null mice, tooth development is arrested at the bud stage.
80380046   +34 more
core  

Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1.

open access: yes, 1995
peer reviewedPax9, a recently identified mouse paired-box-containing gene, is highly homologous to Pax1 and belongs to the same subfamily as Pax1, Hup48, PAX9, and pox meso.
Koseki, H.   +4 more
core   +1 more source

Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development

open access: yesMechanisms of Development, 2005
From early in limb development the transcription factor Gli3 acts to define boundaries of gene expression along the anterior-posterior (AP) axis, establishing asymmetric patterns required to provide positional information. As limb development proceeds, posterior mesenchyme expression of Sonic hedgehog (Shh) regulates Gli3 transcription and post ...
McGlinn, Edwina   +11 more
openaire   +5 more sources

Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype

open access: yes, 2017
Tooth agenesis is one of the most common developmental anomalies affecting function and esthetics. The paired-domain transcription factor, Pax9, is critical for patterning and morphogenesis of tooth and taste buds. Mutations of PAX9 have been identified
H. Zhang   +13 more
core   +1 more source

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