Results 81 to 90 of about 10,438 (212)

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

Local application of Usag-1 siRNA can promote tooth regeneration in Runx2-deficient mice

Scientific Reports, 2021
Runt-related transcription factor 2 (Runx2)-deficient mice can be used to model congenital tooth agenesis in humans. Conversely, uterine sensitization-associated gene-1 (Usag-1)-deficient mice exhibit supernumerary tooth formation.
Sayaka Mishima, Katsu Takahashi, Honoka Kiso, Akiko Murashima-Suginami, Yoshihito Tokita, Jun-Ichiro Jo, Ryuji Uozumi, Yukiko Nambu, Boyen Huang, Hidemitsu Harada, Toshihisa Komori, Manabu Sugai, Yasuhiko Tabata, Kazuhisa Bessho   +13 more
doaj   +1 more source

Exclusion of PAX9 and MSX1 mutation in six families affected by tooth agenesis. A genetic study and literature review [PDF]

, 2014
Objectives: In the present study, it is described the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities ...
Arte, Sirpa, Carvalho Lobato, P., Manzanares Céspedes, María Cristina, Nieminen, Pekka, Tallón Walton, Victòria, Valdivia Gandur, Ivan   +5 more
core   +1 more source

Early Oral Rehabilitation of a Pediatric Patient With Hypohidrotic Ectodermal Dysplasia: A Case Report from Afghanistan

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai, Hedayatullah Ehsan, Fatima Sapai, Mohammad Bashir Nejabi, Ahmad Anas Khairzad, Nematullah Sharifi   +5 more
wiley   +1 more source

Radiographic Assessment of Third Molars Agenesis Patterns in Young Adults

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2021
Objective: To determine the prevalence of third molar agenesis and associated characteristics. Material and Methods: A total of 2374 panoramic radiographs were retrieved from the radiological archives and evaluated in a computer monitor under optimum ...
Anahat Chugh, Komal Smriti, Anupam Singh, Mathangi Kumar, Kalyan Chakravarthy Pentapati, Srikanth Gadicherla, Chehak Nayyar, Shreshth Kapoor   +7 more
doaj  

Association between agenesis and root morphology of anterior teeth

Revista de Odontologia da UNESP, 2019
Introduction Tooth agenesis is likely to affect the root teeth and should be considerated in orthodontic tratament. Objective The aim of this study was to assess the association between agenesis and root morphology of anterior teeth.
Rodrigo BORALI, Carolina Carmo de MENEZES, Giovana Cherubini VENEZIAN, Silvia Amélia Scudeler VEDOVELLO, Viviane Veroni DEGAN   +4 more
doaj   +1 more source

Availability Of Dental Anomaly Phenotype In Individuals With Familial Adenomatous Polyposis [PDF]

, 2014
Background: Mutations in the APC gene cause familial adenomatous polyposis (FAP), an autosomal dominant colorectal cancer predisposition associated with the development of hundreds to thousands of adenomatous colorectal polyps beginning in childhood or ...
Lewis, Andrea M
core  

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation [PDF]

, 2016
BACKGROUND: Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles.
Bygum, Anette, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Krøigård, Anne Bruun   +4 more
core   +2 more sources

Patient‐Reported Outcomes Following Loss of Permanent Incisors due to Traumatic Dental Injuries: A Retrospective Cross‐Sectional Pilot Cohort Study

Clinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.
ABSTRACT Purpose This study aimed to investigate the effects of trauma‐related tooth loss before age 18 years on adolescents and young adults. Materials and Methods Ninety‐three patients with permanent incisor loss due to traumatic dental injury (TDI) completed a newly developed pilot, TDI‐specific questionnaire evaluating their experiences following ...
Josephine Solgaard Henriksen, Eva Lauridsen, Simon Storgård Jensen, Nuno Vibe Hermann   +3 more
wiley   +1 more source

The molecular basis of non-syndromic orofacial clefts and tooth agenesis

Journal of Medical Science, 2017
Non-syndromic orofacial clefts and tooth agenesis are two of the most common craniofacial birth defects. Both of them have a complex etiology, with genetic and environmental factors involved.
Agnieszka Danuta Gaczkowska, Paweł Piotr Jagodziński, Adrianna Mostowska   +2 more
doaj   +1 more source