Results 191 to 200 of about 4,591 (213)

Non-syndromic Oligodontia with a Novel Mutation of PAX9

Journal of Dental Research, 2010
Agenesis of the permanent teeth is a congenital anomaly that is frequently seen in humans. Oligodontia is a severe type of tooth agenesis involving 6 or more congenitally missing teeth, excluding the third molars. Previous studies have indicated that mutations in the homeobox gene MSX1, paired domain transcription factor PAX9, and EDA are associated ...
N, Suda, T, Ogawa, T, Kojima, C, Saito, K, Moriyama   +4 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

G-quadruplex formation enhances splicing efficiency of PAX9 intron 1

Human Genetics, 2014
G-quadruplexes are secondary structures present in DNA and RNA molecules, which are formed by stacking of G-quartets (i.e., interaction of four guanines (G-tracts) bounded by Hoogsteen hydrogen bonding). Human PAX9 intron 1 has a putative G-quadruplex-forming region located near exon 1, which is present in all known sequenced placental mammals.
Mariana Martins, Ribeiro, Gleidson Silva, Teixeira, Luciane, Martins, Marcelo Rocha, Marques, Ana Paula, de Souza, Sergio Roberto Peres, Line   +5 more
openaire   +2 more sources

Su1166 Pax9 is Critical for Esophageal Epithelial Development

Gastroenterology, 2012
Background and Aims: Autophagy is a normal physiological mechanism for the degradation of cellular proteins and organelles. Excessive autophagy induced by cellular stress leads to cell death. However, the exact role of autophagy in cancer is not completely clear. Beclin1 plays a central role in the regulation of autophagy.
Hao Chen, Yuhui Hu, Andrea Beasley, Whitney Tevebaugh, Xiaoxin L. Chen   +4 more
openaire   +1 more source

Functional analysis of Nkx2.1 and Pax9 for calcitonin gene transcription

General and Comparative Endocrinology, 2007
Nkx2.1 (TTF-1), a homeodomain-containing transcription factor essential for specific gene expression in thyroid follicular cells, exists also in the thyroidal C cells that secrete calcitonin (CT). In this report, we examined the effect of Nkx2.1 on the CT gene transcription. Luciferase reporter assay using the 2kbp promoter sequence of rat CT/CGRP gene
Masakazu, Suzuki, Nobuto, Katagiri, Makoto, Ueda, Shigeyasu, Tanaka   +3 more
openaire   +2 more sources

Novel missense mutation in PAX9 gene associated with familial tooth agenesis

Journal of Oral Pathology & Medicine, 2012
PAX9 is a transcription factor deeply involved in the gene networks that regulate odontogenesis. To date, only a restricted number of mutations in this gene have been associated with non‐syndromic tooth agenesis. Six families segregating non‐syndromic oligodontia/hypodontia were screened for mutations in PAX9 gene.
B R, Boeira, S, Echeverrigaray
openaire   +2 more sources

The dominant negative mutation of PAX9 in nonsyndromic tooth agenesis

Clinical Oral Investigations
Paired box 9 (PAX9) is a transcription factor that plays a critical role in the development of human dentition. Although various mutations in the PAX9 gene have been identified to date, the mechanisms by which these mutations cause non-syndromic tooth agenesis (NSTA) remain not fully understood.
Yuhua, Pan, Yuanyuan, Li, Fangbing, Zhao, Yuting, Zeng, Shenglong, Tan, Fei, He, Fu, Xiong, Dandan, Ma   +7 more
openaire   +2 more sources

Isolation of the PAX9 cDNA from adult human esophagus

Mammalian Genome, 1997
Peters, Heiko, Schuster, G., Neubüser, Annette, Richter, T., Höfler, Heinz, Balling, Rudi   +5 more
openaire   +3 more sources

Identification and functional analysis of two novel PAX9 mutations.

Cells, tissues, organs, 2009
The paired-domain transcription factor PAX9 plays a critical role in tooth development, as heterozygous mutations in PAX9 have been shown to be associated with human tooth agenesis. In this study, we report 2 novel missense mutations, gly6arg (G6R) and ser43lys (S43K), in the paired domain of PAX9 in Chinese patients with varying degrees of ...
Ying, Wang, Hua, Wu, Jingfeng, Wu, Hongshan, Zhao, Xiaoxia, Zhang, Gabriele, Mues, Rena N, D'Souza, Hailan, Feng, Hitesh, Kapadia   +8 more
openaire   +1 more source

Alcohol drinking inhibits NOTCH–PAX9 signaling in esophageal squamous epithelial cells

Journal of Pathology, 2021
Zheng Sun, Xiaoxin Chen, Zhaohui Xiong
exaly