Results 41 to 50 of about 2,841 (212)

Canine NAPEPLD-associated models of human myelin disorders [PDF]

, 2018
Canine leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder of the CNS white matter currently described in Rottweiler and Leonberger dogs. Genome-wide association study (GWAS) allowed us to map LEMP in a Leonberger cohort to dog
Bannasch, D L, Becker, D, Bellekom, S R, Cassidy, J P, Drogemuller, C, Drogemuller, M, Ekenstedt, K J, Fischer, A, Flegel, T, Furrow, E, Henke, D, Jagannathan, V, Kelly, P A, Leegwater, P A J, Letko, A, Lucot, K, Mandigers, P J J, Martineau, H, Matiasek, K, Mickelson, J R, Minor, K M, Muir, C F, Oevermann, A, Patterson, E E, Platt, S R, Priestnall, S L, Putschbach, K, Shelton, G D, Stassen, QEM   +28 more
core   +7 more sources

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +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

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando, González García, Manuel, López-Arranz Monje, E., Martínez Fernández, Miguel, Pipa Vallejo, Adolfo   +4 more
core  

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

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

Ectodysplasin target gene Fgf20 regulates mammary bud growth and ductal invasion and branching during puberty [PDF]

, 2017
Mammary gland development begins with the appearance of epithelial placodes that invaginate, sprout, and branch to form small arborized trees by birth.
Elo, Teresa, Howard, Beatrice A., Huh, Sung-Ho, Lan, Qiang, Lindfors, Paivi H., Mikkola, Marja L., Ohlsson, Claes, Ornitz, David M., Poutanen, Matti, Trela, Ewelina, Voutilainen, Maria   +10 more
core   +3 more sources

Plasma EDA2R and Risk of Cardiovascular Diseases and All‐Cause Mortality: Analysis of the UK Biobank Cohort

Clinical Cardiology, Volume 49, Issue 5, May 2026.
In this large‐scale UK Biobank analysis, elevated plasma EDA2R was associated with a 74% higher risk of cardiovascular disease and a 177% higher risk of all‐cause mortality, with a 7.2‐year loss in life expectancy in the highest EDA2R group, suggesting its potential as a prognostic biomarker and therapeutic target.
Ziqing Ruan, Jiabin Tu, Hongli Xu, Yupeng Zhi, Chun Chen, Kaiyang Lin, Yansong Guo   +6 more
wiley   +1 more source

hypohidrotiC eCtodermAl dysplAsiA As A rAre CAUse oF ChroniC rhinitis in Children [PDF]

New Medicine, 2016
Introduction. Chronic rhinitis in children may have different causes, both local – with changes being present only in the nasalcavity – or systemic, with nasal congestion as one of the symptoms of a bigger clinical picture.Aim.
Monika Jabłońska-Jesionowska, lidia Zawadzka-głos   +1 more
doaj   +1 more source