Results 61 to 70 of about 15,355 (176)

Identification of Novel Interacting Proteins of FUZ and GPR161

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Protein–protein interactions are central to the dynamic regulation of signaling pathways and provide critical insight into the cellular mechanisms underlying human disease. Our previous study demonstrated biochemical and genetic interactions between FUZ and GPR161 in sonic hedgehog signaling during spinal neural tube development. In this study,
Gabriella Salazar   +3 more
wiley   +1 more source

Innovative 3D‐bioprinted microfibers in calcium phosphate cement platform with Nell‐1 to activate nerve‐bone axis for synergistic bone, vasculature, and nanofibrous nerve regeneration

open access: yesSmart Molecules, EarlyView.
A 3D‐bioprinted platform with stem cells activates “nerve‐bone” signaling by enabling the spatiotemporal delivery of Nell‐1. This activation enhances neurovascular and bone regeneration through the CYFIP1 cascade. In rat calvarial defects, the platform doubled bone regeneration and nerve repair and tripled vascular density, resulting in superior ...
Minjia Zhu   +11 more
wiley   +1 more source

An Overview of Modelling Craniosynostosis Using the Finite Element Method [PDF]

open access: yes, 2019
Craniosynostosis is a medical condition caused by the early fusion of the cranial joint. The finite element method (FEM) is a computational technique that can answer a variety of “what if” questions in relation to the biomechanics of this condition.
Malde, O, Moazen, M, Libby, J
core   +1 more source

Genetic testing in paediatric neurological disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba   +15 more
wiley   +1 more source

Pictorial essay: The many faces of craniosynostosis

open access: yes, 2011
Craniosynostosis is a common condition in the pediatric age group, which may either be isolated or may present as part of a craniofacial syndrome. This pictorial review illustrates the underlying mechanisms and pathophysiology of craniosynostosis, the ...
Paritosh C Khanna   +3 more
core   +1 more source

Unisutural craniosynostosis: simple or complex? [PDF]

open access: yes, 2017
The premature fusion of skull sutures, craniosynostosis, occurs in approximately 1 in 1500 births and results in a altered skull shape and increased risk of intracranial hypertension. This thesis focused on several aspects of unisutural craniosynostosis,
Cornelissen, M.J. (Martijn)
core   +1 more source

Neuropsychological outcomes and health-related quality of life of children operated for nonsyndromic craniosynostosis [PDF]

open access: yes, 2019
The primary aim of this thesis was to assess the intelligence quotient, attention function, adaptive behavior skills, and health-related quality of life of children operated for nonsyndromic craniosynostosis.
Kljajic, Marizela   +10 more
core   +1 more source

Craniosynostosis relationships with Cognitive, Behavioral and Emotional Functioning [PDF]

open access: yes, 2019
The aim of the present thesis is to extend the existing knowledge on both the prevalence and etiology of (neuro)cognitive, behavioral and emotional problems in children with craniosynostosis.
Vlugt, J.J.B. (Joris) van der
core   +1 more source

Craniosynostosis in a child with I-cell disease: The need for genetic analysis before contemplating surgery in craniosynostosis

open access: yesJournal of Pediatric Neurosciences, 2014
We are reporting a rare case of I-cell disease presenting with craniosynostosis. An 11-month-old child presented with abnormal head shape, developmental delay and bent bones. We planned for corrective surgery for craniosynostosis, but on genetic analysis
Lakshmanarao Chittem   +2 more
doaj   +1 more source

Pharmacogenomics in Dentistry: From CYP‐Mediated Drug Response to Precision Prescribing in Oral Healthcare

open access: yesOral Diseases, EarlyView.
ABSTRACT Objective This narrative review critically assesses the clinical relevance of pharmacogenomics within dental genomics, distinguishing clinically actionable applications from emerging or investigational findings. Materials and Methods A targeted literature review was conducted in PubMed/MEDLINE, Scopus and Embase for publications from January ...
Giorgia Pieretto   +3 more
wiley   +1 more source

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