Results 151 to 160 of about 1,437,159 (301)

Vitamin A deficiency triggers colonic methylation potentially impairing colonic neuron via downregulation SGK1/FOXO pathway

Pediatric Discovery
DNA methylation is widely involved in the modification of intestinal function, but the methylation mechanism in the enteric nervous system has not been studied in vitamin A deficiency (VAD).
Bei Tong, Junyan Yan, Zhujun Sun, Ruifang Luo, Fang Lin, Riqiang Hu, Ting Yang, Yuting Wang, Jie Chen   +8 more
doaj   +1 more source

The Predictive Value of Amplitude-Integrated Electroencephalography for the Neurodevelopmental Outcomes of Preterm Newborns at 12 Months Corrected Age

Background. In clinical practice, it is crucial to identify diagnostic methods that can forecast the neurodevelopmental outcomes of very preterm neonates.
Vitalija Marmienė, Rasa Tamelienė, Jurgita Garčinskienė, Inesa Rimdeikienė, Ilona Aldakauskienė, Kristina Štuikienė, Marija Paškauskė, Kastytis Šmigelskas, Elke Griesmaier   +8 more
core   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Potential of Modelling to Support Communication Skills of Children with Neurodevelopmental Disorders in Early Intervention

Ways of supporting the communication skills of children with neurodevelopmental disorders in the home environment seem to be a marginal area of professional interest.
Kateřina Štinglová
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Psychometric Properties of the Parental Stress Scale in Swedish Parents of Children with and without Neurodevelopmental Conditions

Scandinavian Journal of Child and Adolescent Psychiatry and Psychology
Parents of children with neurodevelopmental conditions (NDC) are at risk of experiencing elevated levels of parental stress. Access to robust instruments to assess parental stress is important in both clinical and research contexts.
Lindström Therese, Bergman Tiina Holmberg, Annerstedt Mathilde, Forster Martin, Bölte Sven, Hirvikoski Tatja   +5 more
doaj   +1 more source

Efficacy of Health Literacy Interventions for Caregivers of Individuals with Neurodevelopmental and Chronic Conditions: A Rapid Review

Background/Objectives: Caregivers of individuals with neurodevelopmental and chronic health conditions require health literacy (HL) skills for the long-term management of these conditions.
Olivia Lindly, Susan Hunt, Jenny Downs, Jessica Keeley, Rachel Skoss, Amanda Marie Blackmore, Thom Nevill   +6 more
core   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Histone demethylase KDM5C is a HDACi-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

, 2019
Deregulation of histone H3 lysine 4 (H3K4) demethylation has been directly involved in several forms of neurodevelopmental disorders (NDDs) with limited therapeutic options.
Maria G Miano
core