Results 51 to 60 of about 66,364 (302)
FEBS Open Bio, EarlyView.ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand +2 more
wiley +1 more source
Vitamin B12 deficiency: case report and review of literature
The Pan African Medical Journal, 2021 Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers.
Brahim El Hasbaoui +5 more
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FEBS Open Bio, EarlyView.We first identified functional murine mitochondrial N‐formyl peptides (MT‐FPs) and investigated their effects on the in vitro myeloid‐derived suppressor cell (MDSC) generation from bone marrow cells. We demonstrated that MT‐FPs acted directly on bone marrow cells to promote MDSC generation and modulated the polymorphonuclear (PMN)‐MDSC/monocyte (M ...
Miyako Ozawa +2 more
wiley +1 more source
A Rare Cause of Hypotonia: 49,XXXXX (Pentasomy X)
The Journal of Pediatric Academy, 2023 Pentasomy X syndrome is a very rare sex chromosome numerical anomaly of unknown frequency. The karyotype consists of 49,XXXXX. Musculoskeletal, craniofacial, cardiac, and kidney anomalies accompany psychomotor developmental delays. This report describes,
Kübra Aydoğan +5 more
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FEBS Open Bio, EarlyView.Cytosolically synthesized chloroplast preproteins are translocated across the outer and inner envelope membranes through translocons called TOC and TIC, respectively. In green algae and plants, the TIC core is composed of essential membrane proteins, Tic12, Tic20, and Tic214.
Mengyi Li, Xueyang Zhao, Masato Nakai
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Joubert Syndrome: A Case Report
Nepal Journal of Neuroscience, 2018 Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle +5 more
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Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
The research of the state of muscular tone for children of first-year of life with the delay of motive development [PDF]
Pedagogìka, Psihologìâ ta Mediko-bìologìčnì Problemi Fìzičnogo Vihovannâ ì Sportu, 2010 Purpose: to ground the necessity of normalization of muscular tone for the children of first-year of life with the delay of motive development by facilities of physical rehabilitation. As a result of application of the developed program of early physical
Nagorna O. B.
doaj
Pediatric Neurology Briefs, 1992 The neurologic outcome of 20 patients with propionic acidemia was evaluated at the Medical Unit, Institute of Child Health, London, England.
J Gordon Millichap
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