Results 51 to 60 of about 2,757 (201)

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

Additional file 1 of Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype

, 2021
Additional file 1.
Jonathan Coxhead (739175), Ralf Kist (641672), Heiko Peters (73270), Simon D. Bamforth (11531273), Rachel Queen (11531264), Helen M. Phillips (11531270), Jürgen E. Schneider (10502552), Stéphane Zaffran (186135), Rafiqul Hussain (11531267), Ramada R. Khasawneh (6837734), Timothy J. Mohun (9182581)   +10 more
core   +1 more source

PAX9 Is Involved in Periodontal Ligament Stem Cell-like Differentiation of Human-Induced Pluripotent Stem Cells by Regulating Extracellular Matrix

Biomedicines, 2022
Periodontal ligament stem cells (PDLSCs) play central roles in periodontal ligament (PDL) tissue homeostasis, repair, and regeneration. Previously, we established a protocol to differentiate human-induced pluripotent stem cell-derived neural crest-like ...
Risa Sugiura, Sayuri Hamano, Atsushi Tomokiyo, Daigaku Hasegawa, Shinichiro Yoshida, Hideki Sugii, Shoko Fujino, Orie Adachi, Masataka Kadowaki, Daiki Yamashita, Hidefumi Maeda   +10 more
doaj   +1 more source

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

Investigating a Tbx1 and Pax9 genetic interaction during cardiovascular development [PDF]

, 2015
PHD ThesisCongenital cardiovascular malformations (CCVM) are the most common type of birth defect in humans and can be life threatening for the newborn. 22q11 deletion syndrome (22q11DS) is one of the most common CCVM in humans, with patients presenting ...
Briones Leon, Jose Alberto
core  

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

Transcriptional analysis of the human PAX9 promoter [PDF]

, 2018
Orientador: Sergio Roberto Peres LineDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de PiracicabaResumo: O gene PAX9 pertence a uma família de fatores de transcrição denominada família Pax.
Almeida, Carolina Vieira de
core  

Genome-wide DNA methylation profiling integrated with gene expression profiling identifies PAX9 as a novel prognostic marker in chronic lymphocytic leukemia

Clinical Epigenetics, 2017
Background In chronic lymphocytic leukemia (CLL), epigenomic and genomic studies have expanded the existing knowledge about the disease biology and led to the identification of potential biomarkers relevant for implementation of personalized medicine. In
Lata Rani, Nitin Mathur, Ritu Gupta, Ajay Gogia, Gurvinder Kaur, Jaspreet Kaur Dhanjal, Durai Sundar, Lalit Kumar, Atul Sharma   +8 more
doaj   +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

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