Results 201 to 210 of about 13,260 (299)

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, EarlyView.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Virtual Reality Externalization (VR‐E) for Patients With Eating Disorders: A Pilot Study

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Despite significant health and psychosocial impairments, many individuals with eating disorders (ED) view their disorder as an integral part of their identity. Because this “ego‐syntonicity” is associated with low treatment motivation and treatment dropouts, we investigated the acceptability, feasibility, and effects of a newly ...
Samuel P. E. Mehranfar, Georg Halbeisen, Karsten Braks, Thomas J. Huber, Georgios Paslakis   +4 more
wiley   +1 more source

Open Space Policy‐Making and Planning in Urban Regions: Towards a Theoretical Approach Based on the Multiple Streams Framework

Environmental Policy and Governance, EarlyView.
ABSTRACT Open space networks provide multiple ecosystem services and other benefits which are particularly important to urban regions. Accordingly, there are many examples around the world of urban‐regional open space policies such as regional parks and green belts that connect non‐built‐up areas over several municipalities. Yet it is still unclear how
Gerd Lintz, Mariam Diagayété
wiley   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

Effect of epileptogenesis on hypercapnic cardioventilatory response in kainic acid rats

Epilepsia, EarlyView.
Abstract Objective Cardioventilatory failure is the leading mechanism proposed to underlie sudden unexpected death in epilepsy (SUDEP), which occurs predominantly at night in patients with generalized tonic–clonic seizures. Interictal hypercapnic cardioventilatory responses are suggested to be involved, as they are ablated in chronically epileptic ...
Auriane Apaire, Elise Collard, Abigail Niyibizi, Natasha N. Kumar, Enrique Germany Morrison, Javier Chavez Cerda, Ayse S. Dereli, Riem El Tahry   +7 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source