| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dylan C Sarver, Cheng Xu, Leandro M Velez, Susan Aja, Andrew E Jaffe, Marcus M Seldin, Roger H Reeves, G William Won. Dysregulated systemic metabolism in a Down syndrome mouse model. Molecular metabolism. 2023-01-01. PMID:36587842. |
much of down syndrome (ds) research, however, has focused on addressing how aneuploidy dysregulates cns function leading to cognitive deficit. |
2023-01-01 |
2023-08-14 |
mouse |
| Amandeep Kaur, Anupam Kau. Role of folate metabolizing genes and homocysteine in mothers of Down syndrome children. Tzu chi medical journal. vol 34. issue 4. 2022-12-29. PMID:36578639. |
variants in the genes encoding these enzymes may lead to hypomethylation, resulting in nondisjunction which in turn increases the risk for down syndrome (ds). |
2022-12-29 |
2023-08-14 |
Not clear |
| Paula Araya, Kohl T Kinning, Christina Coughlan, Keith P Smith, Ross E Granrath, Belinda A Enriquez-Estrada, Kayleigh Worek, Kelly D Sullivan, Angela L Rachubinski, Kristine Wolter-Warmerdam, Francis Hickey, Matthew D Galbraith, Huntington Potter, Joaquin M Espinos. IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome. Cell reports. vol 41. issue 13. 2022-12-28. PMID:36577365. |
down syndrome (ds), the genetic condition caused by trisomy 21 (t21), is characterized by stunted growth, cognitive impairment, and increased risk of diverse neurological conditions. |
2022-12-28 |
2023-08-14 |
human |
| Laura Rabes, Laura Adán-Lirola, María Del Pilar González-Molina, José María Galván-Román, Fernando Moldenhauer, Emilia Roy-Vallejo, Diego Real de Asú. Evaluation of congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome. Scientific reports. vol 12. issue 1. 2022-12-28. PMID:36577781. |
to describe congenital and acquired heart diseases in a spanish cohort of adults with down syndrome (ds), which could inform potential health recommendations for this population. |
2022-12-28 |
2023-08-14 |
Not clear |
| Alexander Kleschevniko. GIRK2 Channels in Down syndrome and Alzheimer's disease. Current Alzheimer research. 2022-12-25. PMID:36567290. |
cognitive impairment in down syndrome (ds) results from the abnormal expression of hundreds of genes. |
2022-12-25 |
2023-08-14 |
mouse |
| Victoria Fleming, Brian C Helsel, Lauren T Ptomey, H Diana Rosas, Benjamin Handen, Charles Laymon, Bradley T Christian, Elizabeth Head, Mark Mapstone, Florence Lai, Sharon Krinsky-McHale, Shahid Zaman, Beau M Ances, Joseph H Lee, Sigan L Hartle. Weight Loss and Alzheimer's Disease in Down Syndrome. Journal of Alzheimer's disease : JAD. 2022-12-24. PMID:36565120. |
virtually all adults with down syndrome (ds) develop alzheimer's disease (ad) pathology, but research gaps remain in understanding early signs of ad in ds. |
2022-12-24 |
2023-08-14 |
Not clear |
| Alba Puente-Bedia, María T Berciano, Carmen Martínez-Cué, Miguel Lafarga, Noemí Rued. Oxidative-Stress-Associated Proteostasis Disturbances and Increased DNA Damage in the Hippocampal Granule Cells of the Ts65Dn Model of Down Syndrome. Antioxidants (Basel, Switzerland). vol 11. issue 12. 2022-12-23. PMID:36552646. |
oxidative stress (os) is one of the neuropathological mechanisms responsible for the deficits in cognition and neuronal function in down syndrome (ds). |
2022-12-23 |
2023-08-14 |
mouse |
| Amanallah Soltani, Emily K Schworer, Anna J Esbense. The Mediatory Role of Executive Functioning on the Association Between Sleep and Both Everyday Memory and ADHD Symptoms in Children and Youth With Down Syndrome. American journal on intellectual and developmental disabilities. vol 128. issue 1. 2022-12-22. PMID:36548372. |
people with down syndrome (ds) commonly experience challenges with sleep, executive functioning, everyday memory, and symptoms of attention deficit hyperactivity disorder (adhd). |
2022-12-22 |
2023-08-14 |
Not clear |
| Roweim Sharaf, Wallaa Garout, Renad Shara. Prevalence of Congenital Heart Defects in Individuals With Down Syndrome in Saudi Arabia: A Systematic Review and Meta-Analysis. Cureus. vol 14. issue 11. 2022-12-21. PMID:36540523. |
patients with down syndrome (ds) are commonly diagnosed with congenital heart disease (chd), which is the leading cause of mortality in this group during the first two years of life. |
2022-12-21 |
2023-08-14 |
Not clear |
| Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracaus. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association. BMC medical genomics. vol 15. issue 1. 2022-12-21. PMID:36544206. |
down syndrome (ds) is caused by the presence of an extra copy of full or partial human chromosome 21 (hsa21). |
2022-12-21 |
2023-08-14 |
human |
| Nicolas M Oreskovic, Nicole T Baumer, Chiara Di Camillo, Michelle Cornachia, Catherine Franklin, Sarah J Hart, Priya S Kishnani, Andrew McCormick, Anna L Milliken, Vasiliki Patsiogiannis, Katherine G Pawlowski, Stephanie L Santoro, Sabrina Sargado, Vittorio Scoppola, Amy Torres, Diletta Valentini, Kishore Vellody, Alberto Villani, Brian G Skotk. Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. American journal of medical genetics. Part A. 2022-12-20. PMID:36538912. |
individuals with down syndrome (ds) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (cr) is not clear. |
2022-12-20 |
2023-08-14 |
Not clear |
| Beatrice Vione, Giuseppe Ramacieri, Giacomo Zavaroni, Angela Piano, Giorgia La Rocca, Maria Caracausi, Lorenza Vitale, Allison Piovesan, Caterina Gori, Gian Luca Pirazzoli, Pierluigi Strippoli, Guido Cocchi, Luigi Corvaglia, Chiara Locatelli, Maria Chiara Pelleri, Francesca Antonaro. One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage. Frontiers in medicine. vol 9. 2022-12-19. PMID:36530924. |
down syndrome (ds) is the most common chromosomal disorder and it is caused by trisomy of chromosome 21 (hsa21). |
2022-12-19 |
2023-08-14 |
human |
| Yuni Hisbiyah, Anang Endaryanto, Bagus Setyoboedi, Nur Rochmah, Muhammad Faiz. The correlation between vitamin D and levels of IFN-γ, NF-κB, thyroid antibodies in down syndrome: study in Indonesian children. Acta bio-medica : Atenei Parmensis. vol 93. issue 6. 2022-12-19. PMID:36533745. |
children with down syndrome (ds) are reported to have a higher risk of autoimmunity and lower vd levels than non-ds. |
2022-12-19 |
2023-08-14 |
Not clear |
| Yanyan Liu, Ziyuan Lin, Ying Peng, Yan Jiang, Xuan Zhang, Hongmei Zhu, Lili Zhang, Jiurong Chen, Xianghua Shu, Min Luo, Dan Xie, Yan Chen, Huijuan Liao, Mingfeng Liu, Xiaohu Zhang, Shanling Liu, He Wang, Bin Zhou, Huaqin Su. Embryonic organizer formation disorder leads to multiorgan dysplasia in Down syndrome. Cell death & disease. vol 13. issue 12. 2022-12-19. PMID:36535930. |
despite the high prevalence of down syndrome (ds) and early identification of the cause (trisomy 21), its molecular pathogenesis has been poorly understood and specific treatments have consequently been practically unavailable. |
2022-12-19 |
2023-08-14 |
human |
| Daniel Blumenthal, James A Leonard, Andy Habib, Hengameh Behzadpour, Claire Lawlor, Diego Preciad. Decannulation in Trisomy 21 patients undergoing laryngotracheal reconstruction. International journal of pediatric otorhinolaryngology. vol 164. 2022-12-16. PMID:36525699. |
down syndrome (ds) patients are more susceptible to either congenital or acquired subglottic stenosis (sgs). |
2022-12-16 |
2023-08-14 |
Not clear |
| S Agiovlasitis, B K Ballenger, E E Schultz, Q Du, R W Mot. Calibration of hip accelerometers for measuring physical activity and sedentary behaviours in adults with Down syndrome. Journal of intellectual disability research : JIDR. 2022-12-14. PMID:36514268. |
the knowledge base on physical activity and sedentary behaviour in adults with down syndrome (ds) may advance by accelerometer calibration studies. |
2022-12-14 |
2023-08-14 |
Not clear |
| Kai-Leng Tan, Han-Chung Lee, Pike-See Cheah, King-Hwa Lin. Mitochondrial dysfunction in Down syndrome: From pathology to therapy. Neuroscience. 2022-12-10. PMID:36496187. |
mitochondrial dysfunctions have been described in down syndrome (ds) caused by either partial or full trisomy of chromosome 21 (hsa21). |
2022-12-10 |
2023-08-14 |
Not clear |
| S Onnivello, E K Schworer, M A Prince, L A Daunhauer, D J Fidle. Early developmental profiles among infants with Down syndrome. Journal of intellectual disability research : JIDR. 2022-12-09. PMID:36484342. |
down syndrome (ds) generally predisposes children to a pattern of relative developmental strengths and challenges, but within-syndrome heterogeneity is also commonly observed across many dimensions. |
2022-12-09 |
2023-08-14 |
Not clear |
| Irene Robert. Leukemogenesis in infants and young children with trisomy 21. Hematology. American Society of Hematology. Education Program. vol 2022. issue 1. 2022-12-09. PMID:36485097. |
children with down syndrome (ds) have a greater than 100-fold increased risk of developing acute myeloid leukemia (ml) and an approximately 30-fold increased risk of acute lymphoblastic leukemia (all) before their fifth birthday. |
2022-12-09 |
2023-08-14 |
Not clear |
| Kavita Krell, Albert Pless, Carie Michael, Amy Torres, Jeanhee Chung, Sandra Baker, Jasmine M Blake, Kelli Caughman, Sarah Cullen, Maureen Gallagher, Roxanne Hoke-Chandler, Julius Maina, Diana McLuckie, Kate O'Neill, Angeles Peña, Dina Royal, Michelle Slape, Noemi Alice Spinazzi, Carlos G Torres, Brian G Skotk. Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. American journal of medical genetics. Part A. 2022-12-09. PMID:36493376. |
scant research has explored the healthcare experiences of people with down syndrome (ds) in the united states who are black, african american, of african descent, or of mixed race. |
2022-12-09 |
2023-08-14 |
Not clear |