Results 21 to 30 of about 2,757 (201)

Understanding the implications of the PAX9 gene in tooth development.

European journal of paediatric dentistry, 2011
Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been associated with nonsyndromic forms.To investigate the molecular mechanisms, we evaluated specific haplotypes frequency in exon 3 of the Pax9 gene in 26 patients and 21 controls, using an Italian population.Presence of His239His and the Ala240Pro were ...
ARCURI, CLAUDIO, Zito, I, Santini, F, Muzzi, F, Panetta, V, Squitti, R.   +5 more
openaire   +3 more sources

Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia [PDF]

Journal of Dental Research, Dental Clinics, Dental Prospects, 2022
Background. Hypodontia, or the absence of one or more teeth during tooth formation, is a highly prevalent dental anomaly. Nevertheless, the main causes are still unknown.
Shiva Safari, Asghar Ebadifar, Hossien Najmabadi, Koorosh Kamali, Seyedeh Sedigheh Abedini, Mohammad Mousavi   +5 more
doaj   +1 more source

Pax9 is essential for granulopoiesis but dispensable for erythropoiesis in zebrafish

Biochemical and Biophysical Research Communications, 2021
Paired Box (Pax) gene family, a group of transcription regulators have been implicated in diverse physiological processes. However, their role during hematopoiesis which generate a plethora of blood cells remains largely unknown. Using a previously reported single cell transcriptomics data, we analyzed the expression of individual Pax family members in
Boryeong Pak, Chris E. Schmitt, Sera Oh, Jun-Dae Kim, Woosoung Choi, Orjin Han, Minjung Kim, Myoung-Jin Kim, Hyung-Jin Ham, Shanghyeon Kim, Tae-Lin Huh, Jae-Il Kim, Suk-Won Jin   +12 more
openaire   +2 more sources

Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. [PDF]

PLoS ONE, 2017
Transcription factors PAX9 and MSX1 play crucial roles in the development of permanent teeth at the bud stage, and their loss-of-function variants have been associated with congenital tooth agenesis.
Akiko Murakami, Shinji Yasuhira, Hisayo Mayama, Hiroyuki Miura, Chihaya Maesawa, Kazuro Satoh   +5 more
doaj   +1 more source

Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.

PLoS Genetics, 2020
Dysregulation of ribosome production can lead to a number of developmental disorders called ribosomopathies. Despite the ubiquitous requirement for these cellular machines used in protein synthesis, ribosomopathies manifest in a tissue-specific manner ...
Katherine I Farley-Barnes, Engin Deniz, Maya M Overton, Mustafa K Khokha, Susan J Baserga   +4 more
doaj   +1 more source

Tooth dimensions in hypodontia with a known PAX9 mutation [PDF]

Archives of Oral Biology, 2009
Congenital absence of teeth is a complex condition affecting several parameters of oral development. This is the first study to measure tooth crown dimensions using image analysis in a family with hypodontia in whom the mutation has been identified, and compare them with a control group.Study models were obtained from 10 family members from three ...
Brook, AH, Elcock, C, Aggarwal, M, Lath, DL, Russell, JM, Patel, PI, Smith, RN   +6 more
openaire   +2 more sources

Contrasting evolutionary dynamics of the developmental regulator PAX9, among bats, with evidence for a novel post-transcriptional regulatory mechanism. [PDF]

PLoS ONE, 2013
Morphological evolution can be the result of natural selection favoring modification of developmental signaling pathways. However, little is known about the genetic basis of such phenotypic diversity.
Caleb D Phillips, Boyd Butler, John W Fondon, Hugo Mantilla-Meluk, Robert J Baker   +4 more
doaj   +1 more source

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

Journal 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, Praveen Prasanna, Anantharaj Athimuthu, Prasanna Kumar Bhat, Yogish Puttashamachari   +4 more
doaj   +1 more source

Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development

Journal 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, Silvia Mazzotta, Arjun Vyas, Jurgen E. Schneider, Timothy J. Mohun, Deborah J. Henderson, Helen M. Phillips, Simon D. Bamforth   +7 more
doaj   +1 more source

Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. [PDF]

PLoS 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, Hui-Chen Chan, Igor Makovey, James P Simmer, Jan C-C Hu   +4 more
doaj   +1 more source