Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
HUBUNGAN ANTARA PERSEPSI TERHADAP KETERLIBATAN AYAH DALAM PENGASUHAN DENGAN KONSEP DIRI PADA SISWA KELAS X SMK NEGERI 4 KENDARI [PDF]
Penelitian ini bertujuan untuk mengetahui hubungan antara persepsi terhadap keterlibatan ayah dalam pengasuhan dengan konsep diri pada siswa kelas X SMK Negeri 4 Kendari.
Kristiana, Ika Febrian +1 more
core +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Objectives This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah +6 more
wiley +1 more source
Abstract Early childhood has increasingly been acknowledged as a vital time for all children. Inclusive and quality education is part of the United Nations Sustainable Development Goals, with the further specification that all children have access to quality pre‐primary education.
Laura H. V. Wright +8 more
wiley +1 more source
Father's involvement during the gestation / O envolvimento paterno durante a gestação
The gestational period requires a series of adaptations from the father's side, who needs to prepare himself for the new role he will assume vis-à-vis the baby and his/her new family.
Cesar Augusto Piccinini +4 more
doaj
Mediation effects of mathematics anxiety in the relationship between father's involvement in teaching and student's mathematics achievement in early primary school [PDF]
Previous studies of mathematics anxiety in early primary school students indicate that it has significant negative effects on various educational outcomes, and especially on mathematics achievement. When it comes to anxiety factors related to mathematics
Jerković Ivona, Milovanović Ilija
doaj
Peran Father Involvement terhadap Self Esteem Remaja
The purpose of this study is to examine the role of fathers involvement in parenting towards the development of self esteem in adolescents. This research used quantitative method with purposive sampling technique.
Erna Risnawati +2 more
doaj +1 more source
A myth in time: Victor Erice's El sur [PDF]
En este artículo se estudia tiempo e identidad, mitos y cine en El sur de Victor Erice. Basándose en un análisis de dos escenas, se plantea una relación entre eléxito o fracaso personal, la capacidad para construir mitos, y el transcurso del tiempo.
Evans, J
core
Paternal Circadian Disruption Impairs Offspring Cognition via Sperm microRNAs
Paternal circadian disruption remodels the sperm small RNA payload, elevating miR‐92a‐3p/miR‐25‐3p levels and perturbing early embryonic gene regulatory programs. Microinjection experiments and single‐embryo transcriptomics reveal sex‐specific developmental vulnerabilities, ultimately impairing offspring hippocampal synaptic plasticity and cognition ...
Kexin Zou +22 more
wiley +1 more source

