Results 31 to 40 of about 4,591 (213)

A Nonsyndromic Autosomal Dominant Oligodontia with A Novel Mutation of Pax9-A Clinical and Genetic Report [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2015
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

open access: yesJournal of Cardiovascular Development and Disease, 2020
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]

open access: yes, 2013
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]

open access: yesPLoS ONE, 2012
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]

open access: yes, 2009
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]

open access: yesPLoS ONE, 2011
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

open access: yesMedicina, 2021
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]

open access: yes, 2012
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]

open access: yes, 2020
© 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

PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China

open access: yesJournal of Applied Oral Science, 2013
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

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