| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Anna Pensalfini, Ying Jiang, Seonil Kim, Ralph A Nixo. Assessing Rab5 Activation in Health and Disease. Methods in molecular biology (Clifton, N.J.). vol 2293. 2021-11-17. PMID:34453725. |
an increasing number of neurodegenerative diseases are associated with endocytic dysfunction and, in the case of alzheimer's disease (ad) and down syndrome (ds), an early appearing highly characteristic reflection of endocytic pathway dysfunction is an abnormal enlargement of rab5 positive endosomes. |
2021-11-17 |
2023-08-13 |
mouse |
| Bernadette McCann, Jacob Levman, Nicole Baumer, Melanie Y Lam, Tadashi Shiohama, Liam Cogger, Allissa MacDonald, Prahar Ijner, Emi Takahash. Structural magnetic resonance imaging demonstrates volumetric brain abnormalities in down syndrome: Newborns to young adults. NeuroImage. Clinical. vol 32. 2021-11-17. PMID:34520978. |
down syndrome (ds) is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21 and characterized by intellectual disability. |
2021-11-17 |
2023-08-13 |
human |
| Xu-Qiao Chen, Ahmad Salehi, Matthew L Pearn, Cassia Overk, Phuong D Nguyen, Alexander M Kleschevnikov, Maria Maccecchini, William C Moble. Targeting increased levels of APP in Down syndrome: Posiphen-mediated reductions in APP and its products reverse endosomal phenotypes in the Ts65Dn mouse model. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 17. issue 2. 2021-11-15. PMID:32975365. |
evidence that in down syndrome (ds), a population markedly predisposed to develop early onset ad, increased app gene dose is necessary for both ad neuropathology and dementia points to normalization of the levels of the amyloid precursor protein (app) and its products as a route to further define ad pathogenesis and discovering novel treatments. |
2021-11-15 |
2023-08-13 |
mouse |
| Francesca Antonaros, Silvia Lanfranchi, Chiara Locatelli, Anna Martelli, Giulia Olivucci, Elena Cicchini, Ludovica Carosi Diatricch, Elisa Mannini, Beatrice Vione, Agnese Feliciello, Giuseppe Ramacieri, Sara Onnivello, Renzo Vianello, Lorenza Vitale, Maria Chiara Pelleri, Pierluigi Strippoli, Guido Cocchi, Francesca Pulina, Allison Piovesan, Maria Caracaus. One-carbon pathway and cognitive skills in children with Down syndrome. Scientific reports. vol 11. issue 1. 2021-11-15. PMID:33608632. |
this work investigates the role of metabolite levels in the intellectual impairment of subjects with down syndrome (ds). |
2021-11-15 |
2023-08-13 |
human |
| Christine de Weger, F Nienke Boonstra, Jeroen Goossen. Differences between children with Down syndrome and typically developing children in adaptive behaviour, executive functions and visual acuity. Scientific reports. vol 11. issue 1. 2021-11-15. PMID:33828124. |
in children with down syndrome (ds) development of visual, motor and cognitive functions is atypical. |
2021-11-15 |
2023-08-13 |
Not clear |
| Natalie D DiProspero, David B Keator, Michael Phelan, Theo G M van Erp, Eric Doran, David K Powell, Kathryn L Van Pelt, Frederick A Schmitt, Elizabeth Head, Ira T Lott, Michael A Yass. Selective Impairment of Long-Range Default Mode Network Functional Connectivity as a Biomarker for Preclinical Alzheimer's Disease in People with Down Syndrome. Journal of Alzheimer's disease : JAD. 2021-11-15. PMID:34776436. |
down syndrome (ds) is associated with increased risk for alzheimer's disease (ad). |
2021-11-15 |
2023-08-13 |
Not clear |
| Danielle Drachmann, Austin Carrigg, David A Weinstein, Jacob Sten Petersen, Henrik Thybo Christese. Ketotic hypoglycemia in patients with Down syndrome. JIMD reports. vol 62. issue 1. 2021-11-13. PMID:34765400. |
kh in down syndrome (ds) has not been reported. |
2021-11-13 |
2023-08-13 |
Not clear |
| Y Karakucuk, H Altinkaynak, A Comez, A Beyogl. Objective evaluation of corneal and lens densitometry in children with Down syndrome. Journal francais d'ophtalmologie. vol 43. issue 9. 2021-11-12. PMID:32782070. |
the goal of this study was to compare anterior segment topographic measurements and densitometry measurements of the cornea and lens of patients with down syndrome (ds) with those of healthy individuals. |
2021-11-12 |
2023-08-13 |
Not clear |
| James A Hendrix, Angelika Amon, Leonard Abbeduto, Stamatis Agiovlasitis, Tarek Alsaied, Heather A Anderson, Lisa J Bain, Nicole Baumer, Anita Bhattacharyya, Dusan Bogunovic, Kelly N Botteron, George Capone, Priya Chandan, Isabelle Chase, Brian Chicoine, Cécile Cieuta-Walti, Lara R DeRuisseau, Sophie Durand, Anna Esbensen, Juan Fortea, Sandra Giménez, Ann-Charlotte Granholm, Laura J Hahn, Elizabeth Head, Hampus Hillerstrom, Lisa M Jacola, Matthew P Janicki, Joan M Jasien, Angela R Kamer, Raymond D Kent, Bernard Khor, Jeanne B Lawrence, Catherine Lemonnier, Amy Feldman Lewanda, William Mobley, Paul E Moore, Linda Pollak Nelson, Nicolas M Oreskovic, Ricardo S Osorio, David Patterson, Sonja A Rasmussen, Roger H Reeves, Nancy Roizen, Stephanie Santoro, Stephanie L Sherman, Nasreen Talib, Ignacio E Tapia, Kyle M Walsh, Steven F Warren, A Nicole White, Guang William Wong, John S Y. Opportunities, barriers, and recommendations in down syndrome research. Translational science of rare diseases. vol 5. issue 3-4. 2021-11-12. PMID:34268067. |
recent advances in medical care have increased life expectancy and improved the quality of life for people with down syndrome (ds). |
2021-11-12 |
2023-08-13 |
Not clear |
| O Esteban, C Marcuello, M Martinez, L Lavilla, S Marco, F J Ascas. Macular and choroidal thickness in Down syndrome by swept-source optical coherence tomography (SS-OCT). Archivos de la Sociedad Espanola de Oftalmologia. vol 96. issue 11. 2021-11-12. PMID:34756287. |
down syndrome (ds) is associated with certain structural and functional disorders in the whole visual system. |
2021-11-12 |
2023-08-13 |
human |
| Perla Idalia Vazquez-Hernández, Alan Cárdenas-Conejo, Manuel Alejandro Catalán-Ruiz, Karla Navar-Gallegos, Emilio Zenteno-Salazar, Jose Rafael-Parra-Bravo, Ranferi Aragon-Nogales, Maribel Ibarra-Sarlat, Juan Carlos Núñez-Enríque. Multiple Organ Failure Associated with SARS-CoV-2 Infection in a Child with Down Syndrome: Is Trisomy 21 Associated with an Unfavourable Clinical Course? Case reports in pediatrics. vol 2021. 2021-11-12. PMID:34760326. |
down syndrome (ds) is one of the most frequent genomic disorders around the globe (∼1:700 births). |
2021-11-12 |
2023-08-13 |
Not clear |
| John O Marentette, Colin C Anderson, Kendra M Prutton, Erin Q Jennings, Abhishek K Rauniyar, James J Galligan, James R Roed. Trisomy 21 impairs PGE2 production in dermal fibroblasts. Prostaglandins & other lipid mediators. vol 153. 2021-11-11. PMID:33418267. |
the triplication of human chromosome 21 results in down syndrome (ds), the most common genetic form of intellectual disability. |
2021-11-11 |
2023-08-13 |
human |
| S Onnivello, E K Schworer, L A Daunhauer, D J Fidle. Acquisition of cognitive and communication milestones in infants with Down syndrome. Journal of intellectual disability research : JIDR. 2021-11-11. PMID:34761472. |
however, there is little information regarding the timing of cognitive and communication skill acquisition in young children with down syndrome (ds). |
2021-11-11 |
2023-08-13 |
Not clear |
| Shumpei Mizuta, Noriko Yamane, Saya Mononobe, Asami Watanabe, Ritsuko Kitamura, Tadamori Takahara, Chieko Matsushima, Atushi Yoshida, Seiji Okamoto, Kuniaki Tanaka, Atsushi Iwai, Atsuko Ikegawa, Takahito Wada, Ikuya Usami, Toshiro Maihara, Takao Komai, Toshio Heike, Yoshinobu Nishida, Kenichiro Kobayash. Sensitive detection of GATA1 mutations using complementary DNA-based analysis for transient abnormal myelopoiesis associated with the Down syndrome. International journal of laboratory hematology. 2021-11-11. PMID:34761527. |
gata1 mutation plays an important role in initiating transient abnormal myelopoiesis (tam) and in the clonal evolution towards acute megakaryoblastic leukaemia (amkl) associated with down syndrome (ds). |
2021-11-11 |
2023-08-13 |
Not clear |
| Amanda Saksida, Davide Brotto, Giulia Pizzamiglio, Elena Bianco, Sara Bressan, Agnese Feresin, Maura Bin, Eva Orza. The Influence of Hearing Impairment on Mental Age in Down Syndrome: Preliminary Results. Frontiers in pediatrics. vol 9. 2021-11-10. PMID:34746062. |
the increased life expectancy for patients with down syndrome (ds) has elicited the need to improve their quality of life by enhancing functional outcomes and identifying the factors that contribute to their long-term cognitive decline. |
2021-11-10 |
2023-08-13 |
Not clear |
| Mariska De Lausnay, Kris Ides, Mark Wojciechowski, An Boudewyns, Stijn Verhulst, Kim Van Hoorenbeec. Pulmonary complications in children with Down syndrome: A scoping review. Paediatric respiratory reviews. vol 40. 2021-11-09. PMID:34148805. |
down syndrome (ds) is a prevalent chromosomal disorder associated with a wide range of congenital anomalies and other health problems. |
2021-11-09 |
2023-08-13 |
Not clear |
| Christine de Weger, F Nienke Boonstra, Jeroen Goossen. One-year effects of bifocal and unifocal glasses on executive functions in children with Down syndrome in a randomized controlled trial. Scientific reports. vol 11. issue 1. 2021-11-09. PMID:34413362. |
appropriate glasses can improve visual functioning of children with down syndrome (ds), but it is unknown if such interventions influence their cognitive impairments. |
2021-11-09 |
2023-08-13 |
Not clear |
| Hiromitsu Toshikawa, Akihiro Ikenaka, Li Li, Yoko Nishinaka-Arai, Akira Niwa, Akira Ashida, Yasuhiro Kazuki, Tatsutoshi Nakahata, Hiroshi Tamai, David W Russell, Megumu K Sait. N-Acetylcysteine prevents amyloid-β secretion in neurons derived from human pluripotent stem cells with trisomy 21. Scientific reports. vol 11. issue 1. 2021-11-09. PMID:34462463. |
down syndrome (ds) is caused by the trisomy of chromosome 21. |
2021-11-09 |
2023-08-13 |
human |
| Howard Chung, Peter H R Green, Timothy C Wang, Xiao-Fei Kon. Interferon-Driven Immune Dysregulation in Down Syndrome: A Review of the Evidence. Journal of inflammation research. vol 14. 2021-11-09. PMID:34675597. |
down syndrome (ds) is a unique genetic disease caused by the presence of an extra copy of chromosome 21, which carries four of the six interferon receptor (ifn-r) genes on its long arm. |
2021-11-09 |
2023-08-13 |
Not clear |
| S Onnivello, S Colaianni, F Pulina, C Locatelli, C Marcolin, G Ramacieri, F Antonaros, B Vione, A Piovesan, S Lanfranch. Executive functions and adaptive behaviour in individuals with Down syndrome. Journal of intellectual disability research : JIDR. 2021-11-09. PMID:34750907. |
previous research has explored executive functions (efs) and adaptive behaviour in children and adolescents with down syndrome (ds), but there is a paucity of research on the relationship between the two in this population. |
2021-11-09 |
2023-08-13 |
Not clear |