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Akademický článek

Single-nuclei transcriptome analysis of Huntington disease iPSC and mouse astrocytes implicates maturation and functional deficits

Autor: Andrea M. Reyes-Ortiz, Edsel M. Abud, Mara S. Burns, Jie Wu, Sarah J. Hernandez, Nicolette McClure, Keona Q. Wang, Corey J. Schulz, Ricardo Miramontes, Alice Lau, Neethu Michael, Emily Miyoshi, David Van Vactor, John C. Reidling, Mathew Blurton-Jones, Vivek Swarup, Wayne W. Poon, Ryan G. Lim, Leslie M. Thompson

Publikováno v: iScience, Vol 26, Iss 1, Pp 105732- (2023)

Summary: Huntington disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the huntingtin gene that alters cellular homeostasis, particularly in the striatum and cortex. Astrocyte signaling that establishes and maintains neuro

Externí odkaz: https://doaj.org/article/3051cef5c5b24f3ebdab019b1d8be6cf

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Akademický článek

Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes

Autor: Gloriia Novikova, Manav Kapoor, Julia TCW, Edsel M. Abud, Anastasia G. Efthymiou, Steven X. Chen, Haoxiang Cheng, John F. Fullard, Jaroslav Bendl, Yiyuan Liu, Panos Roussos, Johan LM Björkegren, Yunlong Liu, Wayne W. Poon, Ke Hao, Edoardo Marcora, Alison M. Goate

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)

This study integrates Alzheimer’s disease (AD) GWAS data with myeloid cell genomics, and reports that myeloid active enhancers are most burdened by AD risk alleles. The authors also nominate candidate causal regulatory elements, variants and genes

Externí odkaz: https://doaj.org/article/e7ee804a940645c0aa0e698c50c1d0da

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Akademický článek

IgM response against amyloid-beta in aging: a potential peripheral protective mechanism

Autor: Sudhanshu Agrawal, Edsel M. Abud, Shikha Snigdha, Anshu Agrawal

Publikováno v: Alzheimer’s Research & Therapy, Vol 10, Iss 1, Pp 1-11 (2018)

Abstract Background The immune system plays a major role in the pathogenesis of age-related dementia, including Alzheimer’s disease (AD). An insight into age-associated changes in the immune response to amyloid-beta (Aβ) in individuals without AD

Externí odkaz: https://doaj.org/article/b1950f893f9f452f9792add849b8fc3f

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Akademický článek

First record of terrestrial snail Eobania vermiculata (O.F. Müller, 1774) (Gastropoda: Helicidae) from Basrah areas, Iraq

Autor: Khaled K. S. Al-Khafaji, Abtsam M. Abud-Sahab, Najim M. Aziz

Publikováno v: Arthropods, Vol 5, Iss 3, Pp 125-129 (2016)

Specimens of the terrestrial gastropod Eobania vermiculata (O.F. Müller, 1774) were collected from two locations (Hareerregion and Al-Khoraregion) in Basrah city, Iraq, during the period from March 2015 to April 2016. Some notes on the morphological

Externí odkaz: https://doaj.org/article/fdddcf10d68847e5beb3d3d3427c3522

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Rapid genome sequencing identifies novel variants in complement factor I

Autor: Katherine M. Rodriguez, Jordan Vaught, Michelle Dilley, Kataryzna Ellsworth, Alaina Heinen, Edsel M. Abud, Yuzhou Zhang, Richard J.H. Smith, Robert Sheets, Bob Geng, Hal M. Hoffman, H. Michael Worthen, David Dimmock, Nicole G. Coufal

Publikováno v: Cold Spring Harbor molecular case studies. 8(7)

Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We rep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65fd6f375a38711ee959b2a95362cbc3
https://pubmed.ncbi.nlm.nih.gov/36577522

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Akademický článek

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