Results 21 to 30 of about 105,581 (338)
Asynchronous excitatory neuron development in an isogenic cortical spheroid model of Down syndrome
Frontiers in Neuroscience, 2022 The intellectual disability (ID) in Down syndrome (DS) is thought to result from a variety of developmental deficits such as alterations in neural progenitor division, neurogenesis, gliogenesis, cortical architecture, and reduced cortical volume. However,
Zhen Li +9 more
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Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells
Nature Communications, 2017 Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to
Yansheng Liu +14 more
semanticscholar +1 more source
Hypermetabolism in mice carrying a near-complete human chromosome 21
eLife, 2023 The consequences of aneuploidy have traditionally been studied in cell and animal models in which the extrachromosomal DNA is from the same species. Here, we explore a fundamental question concerning the impact of aneuploidy on systemic metabolism using ...
Dylan C Sarver +11 more
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Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells
Frontiers in Cellular Neuroscience, 2020 Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi +2 more
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Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy
Taiwanese Journal of Obstetrics & Gynecology, 2007 Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations.
Chih-Ping Chen
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Single umbilical artery: a continuous dilemma and challenge in obstetric management
Clinical and Experimental Obstetrics & Gynecology, 2021 Background: The single umbilical artery (SUA), an entity with almost unknown etiology, is still subject to discussion regarding its clinical significance, especially when it is an isolated discovery (iSUA).
Oana Sorina Tica +5 more
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Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities
Фундаментальная и клиническая медицина, 2022 Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome ...
A. N. Volkov +4 more
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Cell Reports, 2016 Chromosomal aneuploidy and specific gene mutations are recognized early hallmarks of many oncogenic processes. However, the net effect of these abnormalities has generally not been explored.
Kimihiko Banno +19 more
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Innovative Application of a Microlaryngeal Surgery Tube for difficult Airway Management in a Case of Down’s Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2016 An 11-year-old male child, known case of down’s syndrome with congenital oesophageal stricture was posted for oesophageal dilatation. Preoperative airway assessment revealed a high arched palate, receding mandible and Mallampati Score of 2.
Michell Gulabani +4 more
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Microbiology, 2017 Candida albicans is an important opportunistic fungal pathogen capable of causing both mucosal and disseminated disease. Infections are often treated with fluconazole, a front-line antifungal drug that targets the biosynthesis of ergosterol, a major ...
Matthew Z. Anderson +3 more
semanticscholar +1 more source