Otoacoustic emission examination results on down syndrome students
, 2023 Haidar Haikal Fasya +5 more
openalex +2 more sources
Overview of molecular signatures of senescence and associated resources: pros and cons
FEBS Open Bio, EarlyView.Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas +6 more
wiley +1 more source
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
KARAKTERISTIK BAHASA ANAK-ANAK DOWN SYNDROME DI KAMPUNG DOWN SYNDROME KABUPATEN PONOROGO (SUATU TINJAUAN PSIKOLINGUISTIK) [PDF]
, 2014 Karakterstik bahasa anak-anak down syndrome yang dimaksud dalam makalah ini berkaitan dengan wujud bahasa pertama dan kedua yang dikuasai anak-anak down syndorme, baik secara leksikal maupun gramatikal.
Pamungkas, Sri, Purnanto, Sumarlam Dwi
core
DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling
FEBS Open Bio, EarlyView.Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang +7 more
wiley +1 more source
Penatalaksanaan Kasus Down Syndrome dengan Neurosenso dan Neurodevelopment Treatment di RS PKU Muhammadiyah Bantul [PDF]
, 2018 DOWN SYNDROME CASE MANAGEMENT WITH NEUROSENSO AND TREATMENT OF NEURODEVELOPMENT IN RS PKU MUHAMMADIYAH BANTUL (Indra Prabowo, 2018, 41 Page) Abstract Background: Down Syndrome is a chromosomal disorder that is the formation of chromosome 21 ...
, Arif Pristianto, SSt.FT.,M.Fis +1 more
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Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Major Congenital Anomalies in Babies Born With Down Syndrome: A EUROCAT Population-Based Registry Study [PDF]
Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies.
Addor, Marie-Claude +29 more
core +1 more source
ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells
FEBS Open Bio, EarlyView.Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori +8 more
wiley +1 more source
Self-injurious behaviour in individuals with autism spectrum disorder [PDF]
, 2012 Background: Autism spectrum disorder (ASD) has been identified as a risk marker for self-injurious behaviour. In this study we aimed to describe the prevalence, topography and correlates of self-injury in individuals with ASD in contrast to individuals ...
Moss, J +3 more
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