Results 41 to 50 of about 1,431,497 (181)

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

From muscle fibres to muscle gears: how dynamic fascicle orientation and shape change impact skeletal muscle function

Biological Reviews, EarlyView.
ABSTRACT Skeletal muscle architectural design strongly affects force‐generating capacity and excursion range, and its functional importance to animal and human movement is well founded. Traditionally, this ‘structure–function relation’ has been inferred from architecture measurements with muscles at rest (from anatomical dissections or medical imaging ...
Matheus D. Pinto, James M. Wakeling, Javier A. Almonacid, Anthony J. Blazevich   +3 more
wiley   +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus Burstedt, Daniel Carlberg, Angelica M. Delgado‐Vega, Anna Hammarsjö, Sofie Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Åsa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, Erik Stenund, Fulya Taylan, Malin Ueberschär, Samuel Wiafe, Sofia Ygberg, Anna Lindstrand, Anna Wedell, Ann Nordgren, Tommy Stödberg   +23 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

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

Syndrome congénital d´obstruction des voies aériennes supérieures (syndrome du CHAOS): à propos d'un cas

The Pan African Medical Journal, 2021
Le syndrome congénital d'obstruction des voies aériennes supérieures est une malformation rare qui est mortelle pour le nouveau-né après la naissance. Elle est définie comme une obstruction complète ou presque complète des voies aériennes supérieures.
Kamal El Moussaoui, Aziz Slaoui, Aziz Baidada, Aicha Kharabch   +3 more
doaj   +1 more source

Anophtalmie bilatérale au cours du syndrome de Fraser : à propos d'un cas

The Pan African Medical Journal, 2013
Décrit pour la première fois en 1962, le syndrome de Fraser est un syndrome polymalformatif rare, transmis sur un mode autosomique récessif. Les critères diagnostiques sont cliniques, et comportent des critères majeurs : cryptophtalmie, syndactylie ...
Zouheir Hafidi, Rajae Daoudi
doaj   +1 more source

Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes.

PLoS Genetics, 2010
Using forward genetics, we have identified the genes mutated in two classes of zebrafish fin mutants. The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to mutations in a Laminin subunit or an ...
Thomas J Carney, Natália Martins Feitosa, Carmen Sonntag, Krasimir Slanchev, Johannes Kluger, Daiji Kiyozumi, Jan M Gebauer, Jared Coffin Talbot, Charles B Kimmel, Kiyotoshi Sekiguchi, Raimund Wagener, Heinz Schwarz, Phillip W Ingham, Matthias Hammerschmidt   +13 more
doaj   +1 more source

Comprehensive analysis of FRAS1/FREM family as potential biomarkers and therapeutic targets in renal clear cell carcinoma

Frontiers in Pharmacology, 2022
Background: FRAS1 (Fraser syndrome protein 1), together with FREM1 (the Fras1-related extracellular matrix proteins 1) and FREM2, belonging to the FRAS1/FREM extracellular matrix protein family, are considered to play essential roles in renal ...
Ganggang Wang, Ganggang Wang, Zheng Wang, Haiquan Lu, Zhiqun Zhao, Liqiang Guo, Feng Kong, Aizhen Wang, Shengtian Zhao, Shengtian Zhao   +9 more
doaj   +1 more source

Inspiring systematic inclusion of individual affective states to enhance the quality of wild animal research

Wildlife Biology, EarlyView.
Studies on animals continue to attract criticism, often relating to not accounting for variation, for issues with data quality, reproducibility and generalisability, yet one source of variation remains rarely systematically incorporated: differences in individuals' affective states.
Janire Castellano Bueno, Vittoria Elliott   +1 more
wiley   +1 more source