Results 151 to 160 of about 3,069 (190)

Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China. [PDF]

Int Dent J
Guo X, Xu T, Duan X.
europepmc   +1 more source

The phenotype and genotype of PAX9 mutations causing tooth agenesis

Clinical Oral Investigations, 2023
The purpose of this study was to identify associations between PAX9 mutations and clinical features of non-syndromic tooth agenesis patients.Non-syndromic tooth agenesis patients were found to have mutations by whole exome sequencing (WES). Additionally, conservation analysis and three-dimensional structure prediction were also applied to identify ...
Cailing, Jiang, Kang, Yu, Yihan, Shen, Feng, Wang, Qinggang, Dai, Yiqun, Wu   +5 more
openaire   +3 more sources

Pax1 and Pax9 synergistically regulate vertebral column development

Development, 1999
Abstract The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family. They encode closely related transcription factors and are expressed in similar patterns during mouse embryogenesis, suggesting that Pax1 and Pax9 act in similar developmental pathways.
Peters H, Wilm B, Sakai N, Imai K, Maas R, Balling R   +5 more
core   +5 more sources

PAX9 mutations and genetic synergism in familial tooth agenesis

Annals of the New York Academy of Sciences, 2023
Abstract Familial tooth agenesis (FTA) is one of the most common craniofacial anomalies in humans. Loss‐of‐function mutations in PAX9 and WNT10A have been known to cause FTA with various expressivity.
Kuan‐Yu Chu, Yin‐Lin Wang, Jung‐Tsu Chen, Chia‐Hui Lin, Chung‐Chen Jane Yao, Yi‐Jane Chen, Huan‐Wen Chen, James P. Simmer, Jan C.‐C. Hu, Shih‐Kai Wang   +9 more
openaire   +3 more sources

Pax genes and organogenesis: Pax9 meets tooth development

European Journal of Oral Sciences, 1998
peer reviewedPax genes encode a family of transcription factors that play key roles during embryogenesis. They are required for the development of a variety of organs including the nervous and muscular system, skeleton, eye, ear, kidney, thymus, and ...
Rudi Balling
exaly   +2 more sources

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Mutation of PAX9 is associated with oligodontia

Nature Genetics, 2000
We identified a frameshift mutation in the paired domain of PAX9 following genome-wide analysis of a family segregating autosomal dominant oligodontia. Affected members have normal primary dentition but lacked most permanent molars.
D W, Stockton, P, Das, M, Goldenberg, R N, D'Souza, P I, Patel   +4 more
openaire   +2 more sources

A novel PAX9 mutation causing oligodontia

Archives of Oral Biology, 2017
An extended family presenting with several members affected by developmentally missing teeth was investigated by analysis of the MSX1 and PAX9 genes.Saliva samples were collected and DNA extracted. Primers were designed to span the exons and intron-exon junctions of the MSX1 and PAX9 genes.
Eiman Mohammed, Daw, Christian, Saliba, Godfrey, Grech, Simon, Camilleri   +3 more
openaire   +2 more sources

Studies on Pax9–Msx1 protein interactions

Archives of Oral Biology, 2005
Pax9 belongs to the Pax family of transcriptional regulators that are defined by a highly conserved DNA-binding region, the paired domain. Drosophila, mouse and human genetics have shown that Pax proteins play multiple roles in tissue patterning and organogenesis by mediating their functions in a highly tissue-specific manner. Members of the Pax family,
Takuya, Ogawa, Hitesh, Kapadia, Bailiang, Wang, Rena N, D'Souza   +3 more
openaire   +2 more sources

Mutations in the PAX9 gene in sporadic oligodontia

Orthodontics & Craniofacial Research, 2010
Oligodontia, a congenital lack of six or more teeth, is often associated with mutations in the PAX9 gene; therefore, we searched for mutations in this gene.In the present work, we sequenced fragments of the PAX9 gene in individuals with sporadic oligodontia. Next, we genotyped some mutations we found in patients with oligodontia and individuals without
Janik-Papis, Katarzyna, Popławski, Tomasz, Błasiak, Janusz   +2 more
  +5 more sources

PAX9 and Hypodontia

2008
Abstract The most common abnormality affecting the formation of the dentition is deviation from the usual number of the human permanent dentition (a total of 32 teeth in both jaws) or the deciduous dentition (20 total teeth in both jaws).
Pragna I Patel, Donald T Brown
openaire   +1 more source