Results 161 to 170 of about 3,069 (190)

Novel missense mutations in PAX9 causing oligodontia

Archives of Oral Biology, 2012
We investigated the disease-causing gene of oligodontia in Chinese families and analysed the pathogenesis of mutations of this gene that results in oligodontia.Two families with oligodontia, but of different descent and 100 unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples.
Jia, Liang, Guangtai, Song, Qing, Li, Zhuan, Bian   +3 more
openaire   +2 more sources

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

Human Genetics, 2002
We recently identified a frame-shift mutation in the PAX9 gene as the underlying cause for hypodontia involving permanent molar teeth segregating in an autosomal dominant pattern in a single large family (Stockton et al. 2000). Here we report a small nuclear family in which a father and his daughter are affected with severe hypodontia, involving ...
Parimal, Das, David W, Stockton, Christopher, Bauer, Lisa G, Shaffer, Rena N, D'Souza, TimothyJ, Wright, Pragna I, Patel   +6 more
openaire   +2 more sources

A novel initiation codon mutation of PAX9 in a family with oligodontia

Archives of Oral Biology, 2016
Recent studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, AXIN2, WNT10A and EDA. In this study, mutation of PAX9gene was investigated in a four-generation Chinese family with oligodontia.Genomic DNA was isolated from the blood samples of all the available family members.
Jia, Liang, Chuanqi, Qin, Haitang, Yue, Hong, He, Zhuan, Bian   +4 more
openaire   +2 more sources

Derivation of a mouse model for conditional inactivation of Pax9

genesis, 2007
AbstractPax9 is required for the formation of a variety of organs during mouse development. The function of Pax9 at postnatal stages is unknown since homozygosity of the null allele (Pax9lacZ) causes neonatal lethality. Recently, we have generated a hypomorphic Pax9 allele, Pax9neo, which contains a removable neomycin resistance cassette (neo) and loxP
Kist R, Greally E, Peters H
openaire   +3 more sources

Isolation of the PAX9 cDNA from adult human esophagus

Mammalian Genome, 1997
peer ...
Peters, Heiko, Schuster, G., Neubüser, Annette, Richter, T., Höfler, Heinz, Balling, Rudi   +5 more
openaire   +4 more sources

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

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

A Novel Mutation in Human PAX9 Causes Molar Oligodontia

Journal of Dental Research, 2002
Experimental and animal studies, as well as genetic mutations in man, have indicated that the development of dentition is under the control of several genes. So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth.
S A, Frazier-Bowers, D C, Guo, A, Cavender, L, Xue, B, Evans, T, King, D, Milewicz, R N, D'Souza   +7 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

The Function and Regulatory Network of Pax9 Gene in Palate Development

Journal of Dental Research, 2018
Cleft palate, a common congenital deformity, can arise from disruptions in any stage of palatogenesis, including palatal shelf growth, elevation, adhesion, and fusion. Paired box gene 9 (Pax9) is recognized as a vital regulator of palatogenesis with great relevance to cleft palate in humans and mice.
R. Li, Z. Chen, Q. Yu, M. Weng, Z. Chen
openaire   +2 more sources