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Items: 1 to 20 of 111

1.
Dysregulated systemic metabolism in a Down syndrome mouse model
Dylan C. Sarver, Cheng Xu, Leandro M. Velez, Susan Aja, Andrew E. Jaffe, Marcus M. Seldin, Roger H. Reeves, G. William Wong
Mol Metab. 2023 Feb; 68: 101666. Published online 2022 Dec 29. doi: 10.1016/j.molmet.2022.101666
PMCID:
PMC9841171
ArticlePubReaderPDF–7.7MCite
2.
Ts66Yah, a mouse model of Down syndrome with improved construct and face validity
Arnaud Duchon, Maria del Mar Muñiz Moreno, Claire Chevalier, Valérie Nalesso, Philippe Andre, Marta Fructuoso-Castellar, Mary Mondino, Chrystelle Po, Vincent Noblet, Marie-Christine Birling, Marie-Claude Potier, Yann Herault
Dis Model Mech. 2022 Dec 1; 15(12): dmm049721. Published online 2022 Dec 6. doi: 10.1242/dmm.049721
PMCID:
PMC9789398
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3.
Migration deficits of the neural crest caused by CXADR triplication in a human Down syndrome stem cell model
Huanyao Liu, Shanshan Huang, Weijia Wang, Huiyan Wang, Weijun Huang, Zhichen Zhai, Ding Wang, Yubao Fan, Jiaqi Sun, Dairui Li, Weicheng Chiu, Xingqiang Lai, Jixiao Zeng, Qiong Ke, Tao Wang, Andy Peng Xiang, Yong Yuan, Xinchun Zhang, Weiqiang Li
Cell Death Dis. 2022 Dec; 13(12): 1018. Published online 2022 Dec 5. doi: 10.1038/s41419-022-05481-6
PMCID:
PMC9722909
ArticlePubReaderPDF–8.6MCite
4.
Shaking up the silence: consequences of HMGN1 antagonizing PRC2 in the Down syndrome brain
Sean J. Farley, Alla Grishok, Ella Zeldich
Epigenetics Chromatin. 2022; 15: 39. Published online 2022 Dec 3. doi: 10.1186/s13072-022-00471-6
PMCID:
PMC9719135
ArticlePubReaderPDF–2.1MCite
5.
Aβ and tau prions feature in the neuropathogenesis of Down syndrome
Carlo Condello, Alison M. Maxwell, Erika Castillo, Atsushi Aoyagi, Caroline Graff, Martin Ingelsson, Lars Lannfelt, Thomas D. Bird, C. Dirk Keene, William W. Seeley, Daniel P. Perl, Elizabeth Head, Stanley B. Prusiner
Proc Natl Acad Sci U S A. 2022 Nov 15; 119(46): e2212954119. Published online 2022 Nov 7. doi: 10.1073/pnas.2212954119
PMCID:
PMC9674250
ArticlePubReaderPDF–986KCite
6.
Excessive Negative Regulation of Type I Interferon Disrupts Viral Control in Individuals with Down Syndrome
Louise Malle, Marta Martin-Fernandez, Sofija Buta, Ashley Richardson, Douglas Bush, Dusan Bogunovic
Immunity. Author manuscript; available in PMC 2023 Nov 8.
Published in final edited form as: Immunity. 2022 Nov 8; 55(11): 2074–2084.e5. Published online 2022 Oct 14. doi: 10.1016/j.immuni.2022.09.007
PMCID:
PMC9649881
ArticlePubReaderPDF–2.0MCite
7.
Beyond Amyloid: Immune, Cerebrovascular, and Metabolic Contributions to Alzheimer Disease in People with Down Syndrome
Alessandra C. Martini, Thomas Gross, Elizabeth Head, Mark Mapstone
Neuron. Author manuscript; available in PMC 2023 Jul 6.
Published in final edited form as: Neuron. 2022 Jul 6; 110(13): 2063–2079. Published online 2022 Apr 25. doi: 10.1016/j.neuron.2022.04.001
PMCID:
PMC9262826
ArticlePubReaderPDF–889KCite
8.
Down Syndrome Induced Senescence Disrupts the Nuclear Architecture of Neural Progenitors
Hiruy S. Meharena, Asaf Marco, Vishnu Dileep, Elana R. Lockshin, Grace Y. Akatsu, James Mullahoo, L. Ashley Watson, Tak Ko, Lindsey N. Guerin, Fatema Abdurob, Shruthi Rengarajan, Malvina Papanastasiou, Jacob D. Jaffe, Li-Huei Tsai
Cell Stem Cell. Author manuscript; available in PMC 2023 Jan 6.
Published in final edited form as: Cell Stem Cell. 2022 Jan 6; 29(1): 116–130.e7. doi: 10.1016/j.stem.2021.12.002
PMCID:
PMC8805993
ArticlePubReaderPDF–1.7MCite
9.
A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature
Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza
Genes (Basel) 2021 Dec; 12(12): 1957. Published online 2021 Dec 7. doi: 10.3390/genes12121957
PMCID:
PMC8701147
ArticlePubReaderPDF–3.7MCite
10.
Novel Approaches to an Integrated Route for Trisomy 21 Evaluation
Angelika Buczyńska, Iwona Sidorkiewicz, Anna Trochimiuk, Sławomir Ławicki, Adam Jacek Krętowski, Monika Zbucka-Krętowska
Biomolecules. 2021 Sep; 11(9): 1328. Published online 2021 Sep 8. doi: 10.3390/biom11091328
PMCID:
PMC8465311
ArticlePubReaderPDF–2.4MCite
11.
Down syndrome
Stylianos E. Antonarakis, Brian G. Skotko, Michael S. Rafii, Andre Strydom, Sarah E. Pape, Diana W. Bianchi, Stephanie L. Sherman, Roger H. Reeves
Nat Rev Dis Primers. Author manuscript; available in PMC 2021 Sep 9.
Published in final edited form as: Nat Rev Dis Primers. 2020 Feb 6; 6(1): 9. Published online 2020 Feb 6. doi: 10.1038/s41572-019-0143-7
PMCID:
PMC8428796
ArticlePubReaderPDF–1.6MCite
12.
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren’s Syndrome
Rohan Sharma, Valerie M. Harris, Joshua Cavett, Biji T. Kurien, Ke Liu, Kristi A. Koelsch, Anum Fayaaz, Kaustubh S. Chaudhari, Lida Radfar, David Lewis, Donald U. Stone, C. Erick Kaufman, Shibo Li, Barbara Segal, Daniel J. Wallace, Michael H. Weisman, Swamy Venuturupalli, Jennifer A. Kelly, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S. Cunninghame-Graham, Andrew J. W. Huang, Michael T. Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C. Keystone, Vivian P. Bykerk, Gideon Hirschfield, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L. Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Marta Alarcón-Riquelme, Xavier Mariette, Christopher J. Lessard, John B. Harley, Wan-Fai Ng, Astrid Rasmussen, Kathy L. Sivils, R. Hal Scofield
Arthritis Rheumatol. Author manuscript; available in PMC 2021 Jul 7.
Published in final edited form as: Arthritis Rheumatol. 2017 Nov; 69(11): 2187–2192. Published online 2017 Oct 12. doi: 10.1002/art.40207
PMCID:
PMC8262088
ArticlePubReaderPDF–193KCite
13.
Consequences of aneuploidy in human fibroblasts with trisomy 21
Sunyoung Hwang, Paola Cavaliere, Rui Li, Lihua Julie Zhu, Noah Dephoure, Eduardo M. Torres
Proc Natl Acad Sci U S A. 2021 Feb 9; 118(6): e2014723118. Published online 2021 Feb 1. doi: 10.1073/pnas.2014723118
PMCID:
PMC8017964
ArticlePubReaderPDF–3.2MCite
14.
MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons
Aya Ito-Ishida, Steven A. Baker, Roy V. Sillitoe, Yaling Sun, Jian Zhou, Yukiteru Ono, Junichi Iwakiri, Michisuke Yuzaki, Huda Y. Zoghbi
J Neurosci. 2020 Nov 4; 40(45): 8746–8766. doi: 10.1523/JNEUROSCI.1281-19.2020
PMCID:
PMC7643291
ArticlePubReaderPDF–8.7MCite
15.
Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics
Blandine Ponroy Bally, W Todd Farmer, Emma V Jones, Selin Jessa, J Benjamin Kacerovsky, Alexandre Mayran, Huashan Peng, Julie L Lefebvre, Jacques Drouin, Arnold Hayer, Carl Ernst, Keith K Murai
Hum Mol Genet. 2020 Mar 27; 29(5): 785–802. Published online 2020 Jan 15. doi: 10.1093/hmg/ddaa003
PMCID:
PMC7104679
ArticlePubReaderPDF–2.2MCite
16.
Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors
Rani K. Powers, Rachel Culp-Hill, Michael P. Ludwig, Keith P. Smith, Katherine A. Waugh, Ross Minter, Kathryn D. Tuttle, Hannah C. Lewis, Angela L. Rachubinski, Ross E. Granrath, María Carmona-Iragui, Rebecca B. Wilkerson, Darcy E. Kahn, Molishree Joshi, Alberto Lleó, Rafael Blesa, Juan Fortea, Angelo D’Alessandro, James C. Costello, Kelly D. Sullivan, Joaquin M. Espinosa
Nat Commun. 2019; 10: 4766. Published online 2019 Oct 18. doi: 10.1038/s41467-019-12739-9
PMCID:
PMC6800452
ArticlePubReaderPDF–871KCite
17.
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature
Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake
BMC Med Genet. 2019; 20: 108. Published online 2019 Jun 14. doi: 10.1186/s12881-019-0839-2
PMCID:
PMC6570964
ArticlePubReaderPDF–7.1MCite
18.
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Genome Med. 2019; 11: 25. Published online 2019 Apr 23. doi: 10.1186/s13073-019-0633-y
PMCID:
PMC6480824
ArticlePubReaderPDF–2.0MCite
19.
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease
Carla M. Startin, Nicholas J. Ashton, Sarah Hamburg, Rosalyn Hithersay, Frances K. Wiseman, Kin Y. Mok, John Hardy, Alberto Lleó, Simon Lovestone, Lucilla Parnetti, Henrik Zetterberg, Abdul Hye, LonDownS Consortium, André Strydom
Alzheimers Res Ther. 2019; 11: 26. Published online 2019 Mar 21. doi: 10.1186/s13195-019-0477-0
PMCID:
PMC6429702
ArticlePubReaderPDF–1.1MCite
20.
Neuronal overexpression of Alzheimer's disease and Down's syndrome associated DYRK1A/minibrain gene alters motor decline, neurodegeneration and synaptic plasticity in Drosophila
Simon A. Lowe, Maria M. Usowicz, James J.L. Hodge
Neurobiol Dis. 2019 May; 125: 107–114. doi: 10.1016/j.nbd.2019.01.017
PMCID:
PMC6419573
ArticlePubReaderCite

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