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 +4 more
doaj +1 more source
Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis. [PDF]
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 +5 more
doaj +1 more source
PAX9 (paired box gene 9) [PDF]
Review on PAX9 (paired box gene 9), with data on DNA, on the protein encoded, and where the gene is implicated.
E Robson, J Whall, M Eccles
openaire +1 more source
Contrasting evolutionary dynamics of the developmental regulator PAX9, among bats, with evidence for a novel post-transcriptional regulatory mechanism. [PDF]
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 +4 more
doaj +1 more source
Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. [PDF]
We have previously shown that the paired-box transcription factors Pax1 and Pax9 synergistically act in the proper formation of the vertebral column. Nevertheless, downstream events of the Pax1/Pax9 action and their target genes remain to be elucidated ...
Balling, Rudi +4 more
core +1 more source
Pax1 and Pax9 play redundant, synergistic functions in the patterning and differentiation of the sclerotomal cells that give rise to the vertebral bodies and intervertebral discs (IVD) of the axial skeleton. They are conserved in mice and humans, whereby
V. Sivakamasundari +6 more
doaj +1 more source
Association Analysis of Class II Division 2 Malocclusion and Two Genes Linked to Hypodontia (MSX1 and PAX9) [PDF]
Indiana University-Purdue University Indianapolis (IUPUI)Purpose of the Study: Determine if there is an association of the CII/D2 malocclusion and genes linked to hypodontia, namely PAX9 and MSX1.
Wall, Matthew D.
core +1 more source
Tooth dimensions in hypodontia with a known PAX9 mutation [PDF]
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 +6 more
openaire +2 more sources
Crystallization and preliminary X‐ray diffraction analysis of the Pax9 paired domain bound to a DC5 enhancer DNA element [PDF]
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/109357/1/S2053230X14017415 ...
Hilbig, Antonia +5 more
core +1 more source
PAX9 Determines Epigenetic State Transition and Cell Fate in Cancer [PDF]
Abstract Abnormalities in genetic and epigenetic modifications can lead to drastic changes in gene expression profiles that are associated with various cancer types. Small cell lung cancer (SCLC) is an aggressive and deadly form of lung cancer with limited effective therapies currently ...
Zibo Zhao +8 more
openaire +2 more sources

