Results 41 to 50 of about 20,731 (178)

Cryptophthalmos in Fraser Syndrome: a case report

, 2019
Cryptophthalmos is considered a rare anomaly. Cryptophthalmos describes eyes or an eye covered by continuous sheets of skin which can be complete, incomplete or abortive (congenital symblepharon).
Zimudzi, K, Mangombe, S, Masanganise, R
core   +1 more source

Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes

Molecular Genetics & Genomic Medicine, 2021
Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and feet that ...
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali   +17 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM

Biomedicines, 2021
Anorectal malformations (ARMs) are relatively common congenital abnormalities, but their pathogenesis is poorly understood. Previous gene knockout studies indicated that the signalling pathway mediated by the retinoic acid receptors (RAR) is instrumental
Manuel Mark, Marius Teletin, Olivia Wendling, Jean-Luc Vonesch, Betty Féret, Yann Hérault, Norbert B. Ghyselinck   +6 more
doaj   +1 more source

Flight of the dragons: a global review of migration in Odonata

Biological Reviews, EarlyView.
ABSTRACT Insects are the most abundant and ecologically important animal migrants. Yet, we know relatively little about the patterns and processes underlying insect migration. Dragonflies (Anisoptera) and damselflies (Zygoptera) comprise the ancient insect order Odonata, whose ancestors were the first organisms to fly on Earth.
Johanna S.U. Hedlund, Myles Menz, Jason W. Chapman, Alexander Hayward   +3 more
wiley   +1 more source

Development of a Zebrafish Embryo‐Based Test System for Thyroid Hormone System Disruption: 3Rs in Ecotoxicological Research

Environmental Toxicology and Chemistry, EarlyView.
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz, Melanie Blanc‐Legendre, Maximilian Rinderknecht, Laura Behnstedt, Sara Coordes, Luisa Reger, Sacha Sire, Xavier Cousin, Thomas Braunbeck, Lisa Baumann   +9 more
wiley   +1 more source

Factors associated with better emotional, behavioural and educational outcomes in children with mild intellectual difficulties

JCPP Advances, EarlyView.
Abstract Background Children with mild intellectual difficulties (MID) are at increased risk of poor mental health and functional outcomes compared to typically developing children. Previous research has primarily focused on deficit‐based comparisons. However, substantial heterogeneity exists in this population, ranging from significant impairment to ...
Foteini Tseliou, Charlotte A. Dennison, Christopher B. Eaton, Jessica M. Armitage, Frances Rice, Stephan Collishaw   +5 more
wiley   +1 more source

Queers Queering STEM: Reimagining Inclusive STEM Education

Journal of Research in Science Teaching, EarlyView.
ABSTRACT Grounded in queer theory, this study explores the intersections of queerness and STEM trajectories through the lived experiences of three queer adults with postgraduate degrees in STEM and contributes their insights for queering STEM education.
Nelly K. M. Marosi, Lucy Avraamidou, Mónica López López   +2 more
wiley   +1 more source

Global meta‐analysis reveals urban‐associated behavioural differences among wild populations

Journal of Animal Ecology, EarlyView.
Urbanization drives rapid phenotypic change, yet broad patterns of behavioural responses remain unclear. Using a global phylogenetic meta‐analysis, we show urban populations exhibit increased boldness, aggression, exploration and activity—especially in birds—highlighting consistent behavioural shifts and revealing major taxonomic gaps that limit our ...
Tracy T. Burkhard, Ned A. Dochtermann, Anne Charmantier   +2 more
wiley   +1 more source

Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice

Disease Models & Mechanisms, 2013
SUMMARY Fras1-related extracellular matrix protein 1 (FREM1) is required for epidermal adhesion during embryogenesis, and mice lacking the gene develop fetal skin blisters and a range of other developmental defects.
Fenny Wiradjaja, Denny L. Cottle, Lynelle Jones, Ian Smyth   +3 more
doaj   +1 more source