Results 91 to 100 of about 2,757 (201)

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Molecular Cytogenetics, 2019
Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified.
Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao   +7 more
doaj   +1 more source

The presence and distribution of various genes in postnatal CLP-affected palatine tissue

Maxillofacial Plastic and Reconstructive Surgery
Background Worldwide cleft lip with or without a cleft palate (CL/P) is the most common craniofacial birth defect. Apart from changes in facial appearance, additionally affected individuals often suffer from various associated comorbidities requiring ...
Jana Goida, Mara Pilmane
doaj   +1 more source

Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome.

, 2003
peer reviewedWe 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
Andrea Münsterberg, Rodrigo, I., Munsterberg, Andrea, Isabel Rodrigo, Hill, R.E., Imai, Kenji, Rudi Balling, Kenji Imai, Münsterberg, A., Balling, R., Hill, Robert E., Imai, K., Rodrigo, Isabel, Balling, Rudi, Robert E. Hill   +14 more
core   +1 more source

Unravelling the Molecular Connection Between Pax9 and Autophagy To Regulate Oral Carcinogenesis

, 2022
PAired boX 9 (PAX9) gene belong to the PAX family, which encodes a family of metazoan transcription factors documented by a conserved DNA binding paired domain 128-amino- acids, critically essential for physiology and development.
Bhol, Chandra Sekhar
core  

Defective Msx1 Nuclear Translocation Underlies Severe Oligodontia

International Dental Journal
Aim or purpose: This study aimed to elucidate the mechanism by which MSX1 variants contribute to nonsyndromic tooth agenesis (NSTA) and determine how variant domains correlate with tooth loss severity.
Jing Sun, Chen Yiqi, Zhang Caiqi
doaj   +1 more source

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

, 1998
peer reviewedPax genes have been shown to play important roles in mammalian development and organogenesis. Pax9, a member of this transcription factor family, is expressed in somites, pharyngeal pouches, mesenchyme involved in craniofacial, tooth, and ...
BALLING, Rudi, Neubüser, Annette, Kratochwil, K., Peters, H., Peters, Heiko, Neubuser, A.   +5 more
core   +1 more source

MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

Pakistan Armed Forces Medical Journal, 2018
Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz, Nasrullah Khan, Agha Muhammad Raza, Nisar Ahmed, Jamil Ahmad   +4 more
doaj  

MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.

, 2004
In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population.
Meira, R, Modesto, A, Murray, J C, Vieira, A R   +3 more
core  

FUP maintenance and FUP taste bud renewal do not require Pax9 functions.

, 2014
All analyses were carried out using 3–5 months old mice. (A,B) Pax9 immunostaining of FUPs. In Pax9fl/fl mice (A), Pax9 expression is detected in the FUP epithelium and in isolated taste bud cells (area of taste bud is indicated by dotted line).
Ralf Kist (641672), Moira Crosier (407428), Heiko Peters (73270), Max Robinson (480473), Jennifer Fuchs (641674), Julia Reichelt (641675), Michelle Watson (641673)   +6 more
core   +1 more source

G-quadruplex Formation Enhances Splicing Efficiency Of Pax9 Intron 1.

, 2015
G-quadruplexes are secondary structures present in DNA and RNA molecules, which are formed by stacking of G-quartets (i.e., interaction of four guanines (G-tracts) bounded by Hoogsteen hydrogen bonding).
Line, Sergio Roberto Peres, Teixeira, Gleidson Silva, de Souza, Ana Paula, Marques, Marcelo Rocha, Ribeiro, Mariana Martins, Martins, Luciane   +5 more
core   +1 more source