Results 71 to 80 of about 2,757 (201)

Research progress on pathogenic genes and molecular mechanisms of nonsyndromic tooth agenesis

口腔疾病防治, 2020
Tooth agenesis is a common tooth number deficiency that occurs in the tooth-forming process or earlier period of tooth germ development and has a serious impact on the maxillofacial development, aesthetics and masticatory function of patients.
XIE Weihong, YU Dongsheng, ZHAO Wei
doaj   +1 more source

Analyses of oligodontia phenotypes and genetic etiologies

International Journal of Oral Science, 2021
Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis. Many genes have been implicated in the etiology of tooth agenesis, which is highly variable in its clinical presentation.
Mengqi Zhou, Hong Zhang, Heather Camhi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Jung-Wook Kim, Hera Kim-Berman, Ninna M. R. Yuson, Paul J. Benke, Yiqun Wu, Feng Wang, Yaqin Zhu, James P. Simmer, Jan C-C. Hu   +14 more
doaj   +1 more source

Comparative Transcriptomics Reveals a Dual Role of the Epidermal Differentiation Complex in the Skin and the Oesophagus

Experimental Dermatology, Volume 34, Issue 12, December 2025.
ABSTRACT The epidermal differentiation complex (EDC) is a cluster of genes implicated in the control of the skin barrier. However, some EDC genes are also expressed at high levels in the human oesophagus. To determine whether the expression of EDC genes in the oesophagus is evolutionarily conserved, we performed comparative transcriptomic analyses of ...
Attila Placido Sachslehner, Julia Lachner, Veronika Mlitz, Bahar Golabi, Claudia Hess, Wolfgang Sipos, Leopold Eckhart   +6 more
wiley   +1 more source

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

Molecular Genetics & Genomic Medicine, 2020
Background Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*
Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari   +9 more
doaj   +1 more source

ABCC11 Earwax Trait and Genotype Are Suitable Tools for Introductory Labs to Learn Genetics and Molecular Techniques

Biochemistry and Molecular Biology Education, Volume 53, Issue 6, Page 603-609, November/December 2025.
ABSTRACT Professional experiments in genetic research usually start in a class at university. However, interest in genetic research techniques from an early age is essential. We have continuously performed a short genetic experimental course for high school students using a simple molecular experiment and computer‐based learning for Mendelian ...
Tohru Ohta, Rie Takai, Akiko Yoshida, Durga Paudel, Sarita Giri, Takao Kitagawa, Toshiya Arakawa, Yasuhiro Kuramitsu, Tomoharu Tokutomi   +8 more
wiley   +1 more source

Six2 regulates Pax9 expression, palatogenesis and craniofacial bone formation

Developmental Biology, 2020
In this study, we investigated the role of the transcription factor Six2 in palate development. Six2 was selected using the SysFACE tool to predict genes from the 2p21 locus, a region associated with clefting in humans by GWAS, that are likely to be involved in palatogenesis.
Yan Yan, Sweat, Mason, Sweat, Maurisa, Mansaray, Huojun, Cao, Steven, Eliason, Waisu L, Adeyemo, Lord J J, Gowans, Mekonen A, Eshete, Deepti, Anand, Camille, Chalkley, Irfan, Saadi, Salil A, Lachke, Azeez, Butali, Brad A, Amendt   +13 more
openaire   +2 more sources

Dentofacial phenotype of non-syndromic tooth agenesis patients with PAX9 mutation

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To evaluate the dentofacial phenotype in non-syndromic tooth agenesis (NSTA) patients with paired box gene 9 (PAX9) mutation.Methods·Patients with NSTA who visited the Department of Second Dental Center of Shanghai Ninth People's Hospital ...
DOU Jiaqi, GAO Jie, BIAN Xiaoling, WANG Feng, DAI Qinggang, WU Yiqun   +5 more
doaj   +1 more source

E‐Cigarette and Vanillin Exposure Disrupts Cardiovascular Development in Xenopus laevis

Birth Defects Research, Volume 117, Issue 10, October 2025.
ABSTRACT Introduction Congenital heart defects (CHDs) are a leading cause of perinatal mortality, and maternal cigarette smoking is a well‐established risk factor. In recent years, electronic cigarette (e‐cigarette) use has surged, yet its safety during pregnancy remains poorly defined.
James E. Black III, Thomas O. Raymond, Amanda J. G. Dickinson   +2 more
wiley   +1 more source

Association between polymorphism in the promoter region (G/C-915) of PAX9 gene and third molar agenesis

Journal of Applied Oral Science, 2007
PURPOSE: Hypodontia is the congenital absence of one or more (up to six) permanent and/or deciduous teeth, being one of the most common alterations of the human dentition.
Fabio José Bianch, Tiago Franco de Oliveira, Cristiane Borges Pereira Saito, Regina Célia Rocha Peres, Sérgio Roberto Peres Line   +4 more
doaj   +1 more source

Deconstructing the Thymic Microenvironment Through Genesis to Senescence

Immunological Reviews, Volume 332, Issue 1, July 2025.
ABSTRACT The thymus is essential for adaptive immunity, orchestrating the differentiation of hematopoietic progenitors into various T‐cell lineages. Thymic epithelial cells (TECs) impart this unique function by mediating the major checkpoints in T‐cell differentiation while also imposing stringent tolerance processes required to prevent autoimmunity ...
Michael D'Andrea, Kelin Zhao, Daniel H. D. Gray   +2 more
wiley   +1 more source