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61A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Familyby Bin Jiang, Min Bi, Jun Li, Qi Liu, Nai-An Xiao, Jie Fang, Man-Yi Shi, Zi-Wen Yu, Qi-Lin Ma, Sui-Jun Tong, Kun-Mu Zheng“... in the genes encoding for amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2...”
Published 2020-07-01
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62by Robert C. Barber“... in Mendelian dominant fashion and is caused by mutations in three genes (APP, PSEN1, and PSEN2). Late onset...”
Published 2012-01-01
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63“... in the genes coding for Amyloid Precursor Protein (APP), Presenilin 1 (PSEN-1) and Presenilin 2 (PSEN-2) cause...”
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64by Henriette R. Frederiksen, Bjørn Holst, Sarayu Ramakrishna, Ravi Muddashetty, Benjamin Schmid, Kristine Freude“... worldwide. Mutations in the genes PSEN1, PSEN2 or APP are known to cause familial forms of AD with an early...”
Published 2019-01-01
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65by Hany E. Marei, Asmaa Althani, Nahla Afifi, Anwarul Hasan, Thomas Caceci, Giacomo Pozzoli, Carlo Cenciarelli“... mutation in PSEN2. The generated iPSC colonies grew and were characterized by pluripotency marker staining...”
Published 2021-10-01
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66“... y signos de la enfermedad. Entre ellos están los genes ya conocidos APP, PSEN1 y PSEN2. Con los...”
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67The hypothesis that Helicobacter pylori predisposes to Alzheimer’s disease is biologically plausibleby Felice Contaldi, Federico Capuano, Andrea Fulgione, Riccardo Aiese Cigliano, Walter Sanseverino, Domenico Iannelli, Chiara Medaglia, Rosanna Capparelli“... the hallmarks of Alzheimer’s disease: APP, APOE, PSEN1, and PSEN2. A large fraction of modulated genes (30 out...”
Published 2017-08-01
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68“.... Linkage analysis was the first milestone in unraveling the mutations in APP, PSEN1, and PSEN2 that cause...”
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69“...), presenilin 1 (PSEN1) and presenilin 2 (PSEN2). PSEN1 is the most frequently mutated EOAD gene with a mutation...”
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70“.... In this form, dominant mutations in genes like APP, PSEN-1 and PSEN-2 associated with AD. This study aimed...”
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71by Toshifumi Nomura“.... Furthermore, Psen1–/Psen2–, Psen1–, Ncstn+/–, and Notch1–/Notch2– mice share common phenotypes of human HS...”
Published 2020-05-01
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72“.... This review summarizes three early-onset AD causative genes (<i>APP</i>, <i>PSEN1</i>, and <i>PSEN2</i...”
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73by Zoltan Ferjentsik, Shinichi Hayashi, J Kim Dale, Yasumasa Bessho, An Herreman, Bart De Strooper, Gonzalo del Monte, Jose Luis de la Pompa, Miguel Maroto“.../presenilin2 (Psen1/Psen2), and by pharmacological blocking of the Notch pathway. In contrast to the fish...”
Published 2009-09-01
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74“... (<i>APP</i>), presenilin-1 (<i>PSEN1</i>), and presenilin-2 (<i>PSEN2</i>) genes. AD mutations...”
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75“...1, PSEN2, and APOE have been shown to exhibit large effects on disease susceptibility...”
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76“...1B, MAPT, PSEN2 and TNF—underlie the enrichment of the Kyoto Encyclopedia of Genes and Genomes (KEGG...”
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77“..., and PSEN2), the ultimate cause behind the rest of the cases, called sporadic AD, remains unknown. Current...”
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78by Johannes Lange, Kristin Aaser Lunde, Camilla Sletten, Simon Geir Møller, Ole-Bjørn Tysnes, Guido Alves, Jan Petter Larsen, Jodi Maple-Grødem“... was to investigate whether candidate polymorphisms in five genes (ADAM10, BACE1, BACE2, PSEN2, and CLU) involved...”
Published 2015-01-01
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79by Knight, W. D.“... (PSEN2) gene mutations permit both, and therefore lend themselves to clinical research with results...”
Published 2010
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80by Mercedes A Hernandez-Sapiens, Edwin E Reza-Zaldívar, Ana L Márquez-Aguirre, Ulises Gómez-Pinedo, Jorge Matias-Guiu, Ricardo R Cevallos, Juan C Mateos-Díaz, Víctor J Sánchez-González, Alejandro A Canales-Aguirre“...The presenilin genes (PSEN1 and PSEN2) are mainly responsible for causing early-onset familial...”
Published 2022-01-01
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