Results 51 to 60 of about 19,360 (251)

A novel homozygous mutation of the AIRE gene in an APECED patient from Pakistan: case report and review of the literature [PDF]

, 2018
Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene.
Bellacchio, Emanuele, Betterle, Corrado, Dhamo, Rudina, Fierabracci, Alessandra, Frasca, Federica, Pellegrino, Marsha   +5 more
core   +2 more sources

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2014
Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in
Reema Sharma Dhar, Amitava Bora
doaj   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core   +1 more source

Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis

Cell Proliferation, EarlyView.
Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang, Miao Yu, Hangbo Liu, Kai Sun, Chenxin Geng, Haochen Liu, Hailan Feng, Yang Liu, Hu Zhao, Dong Han   +9 more
wiley   +1 more source

The Hay Wells Syndrome-Derived TAp63aQ540L Mutant has Impaired Transcriptional and Cell Growth Regulatory Activity [PDF]

, 2006
p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC ...
CALABRO', VIOLA, Calogero, R. A., Crispi, S., Di Costanzo, A., LA MANTIA, GIROLAMA, Lo Iacono, M., Mansueto, G., POLLICE, ALESSANDRA, Saviozzi, S.   +8 more
core   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source

Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

Case Reports in Dentistry, 2012
Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands.
Sepideh Mokhtari, Saeedeh Mokhtari, Ali Lotfi   +2 more
doaj   +1 more source

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

Case Reports in Dentistry, 2020
Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati, Saumya Navit, Suleman Abbas Khan, Seema Jabeen, Nishi Grover, Meenakshi Upadhyay   +5 more
doaj   +1 more source

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

Oral Diseases, EarlyView.
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