A Nonsyndromic Autosomal Dominant Oligodontia with A Novel Mutation of Pax9-A Clinical and Genetic Report [PDF]
Oligodontia is congenital absence of one or more teeth which has familial abnormality and attributable to various mutations or polymorphisms of genes often associated with malformative syndromes.
Umapathy Thimmegowda +4 more
doaj +1 more source
Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development
The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches.
Catherine A. Stothard +7 more
doaj +1 more source
Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj +2 more
core +1 more source
Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. [PDF]
Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown.
Shih-Kai Wang +4 more
doaj +1 more source
Characterizing the developmental pathways TTF-1, NKX2-8, and PAX9 in lung cancer [PDF]
We investigated the clinical implications of lung developmental transcription factors (TTF-1, NKX2–8, and PAX9) that we recently discovered as cooperating oncogenes activated by way of gene amplification at chromosome 14q13 in lung cancer.
Hsu, D. S. +13 more
core +1 more source
Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9. [PDF]
A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base pairs) as well as its 5'and 3'flanking intronic segments (232 bp and 220 bp ...
Vanessa R Paixão-Côrtes +9 more
doaj +1 more source
PAX7, PAX9 and RYK Expression in Cleft Affected Tissue
Background and Objectives: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (PAX7, PAX9) and receptor-like tyrosine kinase (RYK) have been previously associated ...
Mārtiņš Vaivads +2 more
doaj +1 more source
PAX Genes in Cancer; Friends or Foes? [PDF]
PAX genes have been shown to be critically required for the development of specific tissues and organs during embryogenesis. In addition, PAX genes are expressed in a handful of adult tissues where they are thought to play important roles, usually ...
Caiyun G. Li, Michael R. Eccles
core +1 more source
Resegmentation is an ancestral feature of the gnathostome vertebral skeleton [PDF]
© The Author(s), 2020. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Criswell, K. E., & Gillis, J. A.
Criswell, Katharine E. +1 more
core +1 more source
Our research aimed to look into the clinical traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9.
Jing WANG +12 more
doaj +1 more source

