Results 61 to 70 of about 3,069 (190)

Targeting of Slc25a21 is associated with orofacial defects and otitis media due to disrupted expression of a neighbouring gene.

PLoS ONE, 2014
Homozygosity for Slc25a21(tm1a(KOMP)Wtsi) results in mice exhibiting orofacial abnormalities, alterations in carpal and rugae structures, hearing impairment and inflammation in the middle ear.
Simon Maguire, Jeanne Estabel, Neil Ingham, Selina Pearson, Edward Ryder, Damian M Carragher, Nicolas Walker, Sanger MGP Slc25a21 Project Team, James Bussell, Wai-In Chan, Thomas M Keane, David J Adams, Cheryl L Scudamore, Christopher J Lelliott, Ramiro Ramírez-Solis, Natasha A Karp, Karen P Steel, Jacqueline K White, Anna-Karin Gerdin   +18 more
doaj   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Novel PAX9 Mutations Causing Isolated Oligodontia

Journal of Personalized Medicine
Hypodontia, i.e., missing one or more teeth, is a relatively common human disease; however, oligodontia, i.e., missing six or more teeth, excluding the third molars, is a rare congenital disorder. Many genes have been shown to cause oligodontia in non-syndromic or syndromic conditions.
Ye Ji Lee, Yejin Lee, Youn Jung Kim, Zang Hee Lee, Jung-Wook Kim   +4 more
openaire   +2 more sources

Delayed Dental Development in Children With Non‐Syndromic Hypodontia: A Cross‐Sectional Study Using a Machine Learning Approach to Dental Age Estimation

Orthodontics &Craniofacial Research, Volume 29, Issue 2, Page 347-356, April 2026.
ABSTRACT Objectives To investigate the influence of non‐syndromic hypodontia on radiographic dental development and to estimate dental age in children with bilateral mandibular agenesis using a machine learning approach. Materials and Methods This retrospective cross‐sectional study included 626 children aged 6–15 years (311 with dental agenesis, 315 ...
Marine Crosnier, Pierre‐Hadrien Decaup, Frédéric Santos, Anaïs Cavare   +3 more
wiley   +1 more source

A Zebrafish Model for Studies on Esophageal Epithelial Biology. [PDF]

PLoS ONE, 2015
Mammalian esophagus exhibits a remarkable change in epithelial structure during the transition from embryo to adult. However, the molecular mechanisms of esophageal epithelial development are not well understood.
Hao Chen, Andrea Beasley, Yuhui Hu, Xiaoxin Chen   +3 more
doaj   +1 more source

Human Atlas of Tooth Decay Progression: Identification of Cellular Mechanisms Driving the Switch from Dental Pulp Repair Toward Irreversible Pulpitis

Advanced Science, Volume 13, Issue 8, 9 February 2026.
Tooth decay progression transforms the dental pulp response from repair to fibrosis. At early stages, stromal cells reprogram to repair the extra cellular matrix (ECM), blood vessels, and nerves, remodel and grow, keeping repair possible. In advanced decay, hypoxia, and vessel regression, in complement with an immune switch, fuel nerve degeneration and
Hoang Thai Ha, Sofya Kosmynina, Amandine Verocq, Keremsah Ozen, Ines Tekia, Hugo Bussy, Marie Ramirez, Dima Sabbah, Chloe Goemans, Valerie Vandenbempt, Esteban N. Gurzov, Sumeet Pal Singh, Nicolas Baeyens   +12 more
wiley   +1 more source

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta‐Analysis

Orthodontics &Craniofacial Research, Volume 29, Issue 1, Page 1-11, February 2026.
ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
M. Cecilia Becerril Santos, Edwin M. Ongkosuwito, Alexandra K. Papadopoulou, Gregory S. Antonarakis   +3 more
wiley   +1 more source

Genotyping analysis of the Pax9 Gene in patients with maxillary canine impaction [version 1; peer review: 2 approved]

F1000Research, 2019
Background: Paired-box gene 9 (PAX9) mutation is potentially associated with impaction in some patient populations. Here, we analyzed the relationship between PAX9 polymorphism and the occurrence of maxillary canine impaction.
Evy Eida Vitria, Iwan Tofani, Lindawati Kusdhany, Endang Winiati Bachtiar   +3 more
doaj   +1 more source

Expression Characteristics of PAX7 and Its Prognostic Correlation in Breast Cancer

The Breast Journal, Volume 2026, Issue 1, 2026.
Objective To conduct a thorough analysis of public databases to investigate the expression patterns of the PAX7 gene in breast cancer. Methods We gathered gene expression data, clinical details, immunohistochemistry images, and genomic information from breast cancer patients through various public databases, such as TCGA, THPA, GEPIA, and cBioPortal ...
Bahatiguli Silafu, Jinxing Huang, Xierzhati Aizezi, Guan-Jun Yang   +3 more
wiley   +1 more source

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   +2 more sources