Results 41 to 50 of about 628 (133)

Non- syndromic oligodontia: A case report

Archives of Dental Research
This case report presents a 14-year-old patient diagnosed with non-syndromic oligodontia, characterized by the absence of multiple permanent teeth. Treatment involved the placement of zirconia crowns in the maxillary arch and a flexi denture in the mandibular arch to address aesthetic and functional concerns.
Roocha Shah, Anup Panda, Mira Virda, Balraj Shukla   +3 more
openaire   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, Volume 255, Issue 10, Page 931-944, October 2026.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise, Benkirane‐Jessel Nadia, Anton Nicolas, Vandamme Thierry, Clauss François, Conzatti Guillaume   +5 more
wiley   +1 more source

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants

Experimental Dermatology, Volume 35, Issue 7, July 2026.
ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Holm Schneider, Smail Hadj‐Rabia, Carola Berking, Matthias Weider, Julie Steffann, Ralf J. Rieker, Lina Gölz, Nicolai Peschel   +7 more
wiley   +1 more source

A Combination of Variants in SEPTIN9 and MSX1 Genes Leads to the Formation of Orofacial Clefts

Genes to Cells, Volume 31, Issue 4, July 2026.
Double‐depleted Xenopus embryos of xMSX1 and xSEPTIN9 exhibited orofacial clefts, and wild‐type but not variants in human MSX1 and human SEPTIN9 mRNAs could rescue the phenotype of morphants, indicating that variants in MSX1 and SEPTIN9, each individually tolerated, synergistically disrupt craniofacial morphogenesis to cause orofacial clefts.
Udval Uuganbayar, Zarko Manojlovic, Nao Ito, Reiko Yamaguchi, Hiromasa Ninomiya, Issei S. Shimada, Chisato Yamada, Devin Feigelson, Gretchen Schulz, Allyn Auslander, Sylvia Rakotoarison, William Magee III, Yutaka Hashimoto, Yoichi Kato   +13 more
wiley   +1 more source

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +1 more source

Familial Adenomatous Polyposis—Risk of Cancer, Cancer Prevention, and Long‐Term Consequences: Learnings from Five Decades with the Danish Polyposis Register

APMIS, Volume 134, Issue 5, May 2026.
ABSTRACT Familial adenomatous polyposis (FAP) is a hereditary condition marked by the growth of hundreds to thousands of adenomatous polyps in the colon and rectum, significantly elevating the risk of colorectal cancer (CRC) if left untreated. Caused by pathogenic variants in the APC gene, FAP is typically identified in adolescence, often leading to ...
John Gásdal Karstensen
wiley   +1 more source

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study

Oral Diseases, Volume 32, Issue 5, Page 1451-1459, May 2026.
ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Marco Montevecchi, Margherita Giorgia Liguori, Ilaria Santini, Nicola Marco Sforza, Giulia Querzoli, Leoluca Valeriani   +5 more
wiley   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family

Archives of Oral Biology, 2023
Variants in wingless-type MMTV integration site family member 10A (WNT10A) have been proposed to be the most common cause of non-syndromic oligodontia (NSO). The goal of the present study was to identify the novel WNT10A variants in Chinese families with NSO.Clinical data were collected from 39 families with oligodontia admitted to the Hospital of ...
Ya Zhao, Yifei Hou, Jiabao Ren, Xuemei Gao, Lingqiang Meng, Ying Liu, Congcong Xing, Wenjing Shen   +7 more
openaire   +2 more sources