Results 51 to 60 of about 18,314 (251)

Advances in miRNA research: Unraveling the complexities of gene regulation

Animal Models and Experimental Medicine, EarlyView.
Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley   +1 more source

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Molecular Genetics and Metabolism Reports, 2021
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina   +14 more
doaj   +1 more source

Removable Partial Dentures vs Overdentures in Children with Ectodermal Dysplasia: Two Case Reports [PDF]

, 2016
Ectodermal dysplasia (ED) represents a disorder group characterised by abnormal development of the ectodermal derivatives. Removable partial dentures (RPD), complete dentures (CD) or overdentures (OD) are most often the treatment of choice for young ...
Angelopoulou, Matina V., Artopoulou, Ioli I., Emmanouil, Dimitris, Maroulakos, Georgios   +3 more
core   +1 more source

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   +1 more source

Identification of Anoikis‐Related Subgroups and Prognosis Model in Colon Cancer

Cancer Nexus, EarlyView.
ABSTRACT Background Anoikis represents a distinct type of programmed cell death that serves a critical function in tumor development and metastatic. Despite its significance, there remains a notable gap in comprehensive studies that explore the role of Anoikis specifically within the context of colon cancer (CC). Thus, it becomes imperative to pinpoint
Shaokang Yang, Peng Yang, Zhicheng Liu, Yujia Chen, Qitong He, Daguang Wang   +5 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

A head start: The relationship of placental factors to craniofacial and brain development

Developmental Dynamics, EarlyView.
Abstract In recent years, the importance of placental function for fetal neurodevelopment has become increasingly studied. This field, known as neuroplacentology, has greatly expanded possible etiologies of neurodevelopmental disorders by exploring the influence of placental function on brain development.
Annemarie Jenna Carver, Martine Dunnwald, Hanna Elizabeth Stevens   +2 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

Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature

Advanced Genetics, EarlyView.
The current study describes a novel type of brachydactyly, characterized by absent phalanges in the toes. Whole genome sequencing identified rare missense variants in the BMP8A and FGFR1 genes, both of which are known to play a role in bone development. Bioinformatic and protein network analysis support their involvement in bone deformities.
Luke Hunter, Muhammad Ilyas
wiley   +1 more source