Results 171 to 180 of about 2,757 (201)

Identification of a nonsense mutation in the PAX9 gene in molar oligodontia [PDF]

European Journal of Human Genetics, 2001
Development of dentition is controlled by numerous genes, as has been shown by experimental animal studies and mutations that have been identified by genetic studies in man. Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family. The A340T transversion creates a stop codon at lysine 114, and
Sirpa Arte, Lars Paulin, S Alaluusua
exaly   +3 more sources

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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

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

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

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, Barbara Biedziak, Mostowska Adrianna   +2 more
exaly   +3 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

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

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

Isolation of the PAX9 cDNA from adult human esophagus

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